Left ventricular hypertrophy: hypertensive or hypertrophic cardiomyopathy? What a dilemma! A case report / Hipertrofia ventricular izquierda: ¿cardiopatía hipertensiva o miocardiopatía hipertrófica? ¡Vaya dilema! Reporte de caso

Abstract In the presence of the left ventricle hypertrophy (LVH), the differential diagnosis with hypertrophic cardiomyopathy (HCM) or some phenocopy must be always considered, which can be easily suspected when the hypertrophy is markedly asymmetric. However, when the hypertrophy is homogeneous, especially if the patient has concomitant hypertension, it may be a challenge to distinguish between hypertensive and HCM, although some clinical features may help us to suspect it. In addition, patients with HCM may present with exertional angina due to microcirculation involvement in the setting of the hypertrophy itself or dynamic obstruction in the left ventricular outflow tract, but in some cases, the presence of concomitant coronary artery disease must be suspected as the cause of angina, especially if the patient has an intermediate or high-risk probability of having ischemic heart disease. We present the case of a 46-year-old Afro-American man with poorly controlled hypertension who was found to have severe LVH, and who presented with symptoms of exertional angina during follow-up. We will review the clinical features that can help us in the differential diagnosis in this context.

Resumen Ante la presencia de hipertrofia del ventrículo izquierdo (HVI), siempre se debe considerar el diagnóstico diferencial con la miocardiopatía hipertrófica (MCH) o alguna fenocopia, que puede sospecharse fácilmente cuando la hipertrofia es marcadamente asimétrica. Además, los pacientes con MCH pueden presentar angina de esfuerzo debido a la afectación de la microcirculación en el contexto de la propia hipertrofia o si ésta condiciona obstrucción dinámica al tracto de salida del ventrículo izquierdo, pero en algunos casos debe sospecharse la presencia de enfermedad coronaria concomitante como causa de la angina, especialmente si el paciente tiene una probabilidad de riesgo intermedio o alto de padecer cardiopatía isquémica. Presentamos el caso de un varón de 46 años de afroamericana con hipertensión arterial mal controlada a quien se le detectó una HVI severa, y que durante el seguimiento presentó síntomas de angina de esfuerzo. Revisaremos las características clínicas que nos pueden ayudar en el diagnóstico diferencial en este contexto.

Pronóstico del trasplante cardiaco en pacientes con miocardiopatía hipertrófica y restrictiva. Análisis de un registro nacional / Prognosis after heart transplant in patients with hypertrophic and restrictive cardiomyopathy. A nationwide registry analysis

Introducción y objetivos: Existe controversia acerca de los resultados del trasplante cardiaco en pacientes con miocardiopatía hipertrófica (MCH) o restrictiva (MCR). Métodos: Análisis retrospectivo de receptores adultos de un primer trasplante cardiaco entre 1984 y 2021 incluidos en un registro nacional. La mortalidad al primer y quinto año postrasplante en receptores con MCH y MCR se comparó con la de receptores con miocardiopatía dilatada (MCD). Resultados: Se incluyó a 3.703 pacientes (3.112 MCD; 331 MCH y 260 MCR) con seguimiento mediano de 5,0 años (3,1-5,0). En comparación con la MCD, el riesgo ajustado de mortalidad a 1 año fue: MCH: hazard ratio (HR)=1,38; intervalo de confianza del 95% (IC95%), 1,07-1,78; p=0,01, MCR: HR=1,48; IC95%, 1,14-1,93; p=0,003. El riesgo ajustado a 5 años fue: MCH: HR=1,17; IC95%, 0,93-1,47; p=0,18; MCR: HR=1,52; IC95%, 1,22-1,89; p<0,001. En los últimos 20 años, la MCR mejoró significativamente la supervivencia a 1 año (R2 ajustada=0,95) y a 5 años (R2=0,88); la MCH mejoró la supervivencia a 5 años (R2=0,59) y a 1 año permaneció estable (R2=0,16). Conclusiones: Se asoció la MCR y la MCH a peor pronóstico precoz postrasplante que la MCD. La diferencia desfavorable se mantuvo para la supervivencia a 5 años solo para la MCR. Se observa una tendencia temporal a mejor pronóstico precoz y tardío para la MCR, y solo para el tardío en la MCH. (AU)

Introduction and objectives: Posttransplant outcomes among recipients with a diagnosis of hypertrophic cardiomyopathy (HCM) or restrictive cardiomyopathy (RCM) remain controversial. Methods: Retrospective analysis of a nationwide registry of first-time recipients undergoing isolated heart transplant between 1984 and 2021. One-year and 5-year mortality in recipients with HCM and RCM were compared with those with dilated cardiomyopathy (DCM). Results: We included 3703 patients (3112 DCM; 331 HCM; 260 RCM) with a median follow-up of 5.0 [3.1-5.0] years. Compared with DCM, the adjusted 1-year mortality risk was: HCM: HR, 1.38; 95%CI, 1.07-1.78; P=.01, RCM: HR, 1.48; 95%CI, 1.14-1.93; P=.003. The adjusted 5-year mortality risk was: HCM: HR, 1.17; 95%CI, 0.93-1.47; P=.18; RCM: HR, 1.52; 95%CI, 1.22-1.89; P<.001. Over the last 20 years, the RCM group showed significant improvement in 1-year survival (adjusted R2=0.95) and 5-year survival (R2=0.88); the HCM group showed enhanced the 5-year survival (R2=0.59), but the 1-year survival remained stable (R2=0.16). Conclusions: Both RCM and HCM were linked to a less favorable early posttransplant prognosis compared with DCM. However, at the 5-year mark, this unfavorable difference was evident only for RCM. Notably, a substantial temporal enhancement in both early and late mortality was observed for RCM, while for HCM, this improvement was mainly evident in late mortality. (AU)

Guidelines on the Diagnosis and Treatment of Hypertrophic Cardiomyopathy ­ 2024 / Diretriz sobre Diagnóstico e Tratamento da Cardiomiopatia Hipertrófica ­ 2024

Hypertrophic cardiomyopathy (HCM) is a form of genetically caused heart muscle disease, characterized by the thickening of the ventricular walls. Diagnosis requires detection through imaging methods (Echocardiogram or Cardiac Magnetic Resonance) showing any segment of the left ventricular wall with a thickness > 15 mm, without any other probable cause. Genetic analysis allows the identification of mutations in genes encoding different structures of the sarcomere responsible for the development of HCM in about 60% of cases, enabling screening of family members and genetic counseling, as an important part of patient and family management. Several concepts about HCM have recently been reviewed, including its prevalence of 1 in 250 individuals, hence not a rare but rather underdiagnosed disease. The vast majority of patients are asymptomatic. In symptomatic cases, obstruction of the left ventricular outflow tract (LVOT) is the primary disorder responsible for symptoms, and its presence should be investigated in all cases. In those where resting echocardiogram or Valsalva maneuver does not detect significant intraventricular gradient (> 30 mmHg), they should undergo stress echocardiography to detect LVOT obstruction. Patients with limiting symptoms and severe LVOT obstruction, refractory to beta-blockers and verapamil, should receive septal reduction therapies or use new drugs inhibiting cardiac myosin. Finally, appropriately identified patients at increased risk of sudden death may receive prophylactic measure with implantable cardioverter-defibrillator (ICD) implantation.

La miocardiopatía hipertrófica (MCH) es una forma de enfermedad cardíaca de origen genético, caracterizada por el engrosamiento de las paredes ventriculares. El diagnóstico requiere la detección mediante métodos de imagen (Ecocardiograma o Resonancia Magnética Cardíaca) que muestren algún segmento de la pared ventricular izquierda con un grosor > 15 mm, sin otra causa probable. El análisis genético permite identificar mutaciones en genes que codifican diferentes estructuras del sarcómero responsables del desarrollo de la MCH en aproximadamente el 60% de los casos, lo que permite el tamizaje de familiares y el asesoramiento genético, como parte importante del manejo de pacientes y familiares. Varios conceptos sobre la MCH han sido revisados recientemente, incluida su prevalencia de 1 entre 250 individuos, por lo tanto, no es una enfermedad rara, sino subdiagnosticada. La gran mayoría de los pacientes son asintomáticos. En los casos sintomáticos, la obstrucción del tracto de salida ventricular izquierdo (TSVI) es el trastorno principal responsable de los síntomas, y su presencia debe investigarse en todos los casos. En aquellos en los que el ecocardiograma en reposo o la maniobra de Valsalva no detecta un gradiente intraventricular significativo (> 30 mmHg), deben someterse a ecocardiografía de esfuerzo para detectar la obstrucción del TSVI. Los pacientes con síntomas limitantes y obstrucción grave del TSVI, refractarios al uso de betabloqueantes y verapamilo, deben recibir terapias de reducción septal o usar nuevos medicamentos inhibidores de la miosina cardíaca. Finalmente, los pacientes adecuadamente identificados con un riesgo aumentado de muerte súbita pueden recibir medidas profilácticas con el implante de un cardioversor-desfibrilador implantable (CDI).

A cardiomiopatia hipertrófica (CMH) é uma forma de doença do músculo cardíaco de causa genética, caracterizada pela hipertrofia das paredes ventriculares. O diagnóstico requer detecção por métodos de imagem (Ecocardiograma ou Ressonância Magnética Cardíaca) de qualquer segmento da parede do ventrículo esquerdo com espessura > 15 mm, sem outra causa provável. A análise genética permite identificar mutações de genes codificantes de diferentes estruturas do sarcômero responsáveis pelo desenvolvimento da CMH em cerca de 60% dos casos, permitindo o rastreio de familiares e aconselhamento genético, como parte importante do manejo dos pacientes e familiares. Vários conceitos sobre a CMH foram recentemente revistos, incluindo sua prevalência de 1 em 250 indivíduos, não sendo, portanto, uma doença rara, mas subdiagnosticada. A vasta maioria dos pacientes é assintomática. Naqueles sintomáticos, a obstrução do trato de saída do ventrículo esquerdo (OTSVE) é o principal distúrbio responsável pelos sintomas, devendo-se investigar a sua presença em todos os casos. Naqueles em que o ecocardiograma em repouso ou com Manobra de Valsalva não detecta gradiente intraventricular significativo (> 30 mmHg), devem ser submetidos à ecocardiografia com esforço físico para detecção da OTSVE.   Pacientes com sintomas limitantes e grave OTSVE, refratários ao uso de betabloqueadores e verapamil, devem receber terapias de redução septal ou uso de novas drogas inibidoras da miosina cardíaca. Por fim, os pacientes adequadamente identificados com risco aumentado de morta súbita podem receber medida profilática com implante de cardiodesfibrilador implantável (CDI).

Effect of a topical silicone gel and a polyurethane dressing on the evolution of scars.

OBJECTIVE: To assess the effectiveness and safety of a topical silicone gel (BE + Gel reductor y reparador de cicatrices) and a polyurethane dressing (BE + Apósito reductor y reparador de cicatrices) on the evolution of scars of patients who were previously recruited in the emergency care unit while seeking wound care. METHOD: A single center, stratified observational, open label study was performed in the emergency care unit of Donostia Universitary Hospital (recruitment) and in the Biodonostia Health Research Institute (intervention). Scars located in unexposed body areas with the dressing, and scars located in exposed areas with either the gel or the dressing. Investigators assessed interventions at day 1 and on weeks 4, 8 and 12. Vancouver Scar Scale (VSS) and a photographical assessment were used to determine the scars evolution, and the subjective perception of the scar was evaluated by means of a questionnaire administered to the patients. RESULTS: Patients whose scars were treated with the silicone gel had an average initial VSS score of 5.4 ± 2.08. This value was reduced to 0.86 ± 1.17 after 90 days of treatment. Patients treated with the polyurethane dressing had an average initial VSS score of 5.8 ± 2.29. After 90 days of treatment, this average score was reduced to 0.33 ± 0.66. Positive evolution of scars was also supported by photographs and by a patient questionnaire. CONCLUSIONS: Both treatments appear to be safe and effective, objectively, and subjectively, in the context of scar evolution.

Impacto de la miectomía septal ampliada sobre los cambios ecocardiográficos en la miocardiopatía hipertrófica obstructiva / Impact of Extended Septal Miectomy on Echocardiographic Changes in Hypertophic Obstructivec Cardiomyopathy

RESUMEN Introducción: La miectomía septal ampliada (MSA) ha demostrado ser una estrategia útil para mejorar los síntomas de los pacientes con miocardiopatía hipertrófica obstructiva (MCHO). Objetivos: El objetivo de este trabajo fue analizar el impacto de la MSA en parámetros estructurales y funcionales ecocardiográficos a corto y mediano plazo, en pacientes con MCH y obstrucción dinámica del tracto de salida del ventrículo izquierdo (VI). Material y métodos: Se analizaron los ecocardiogramas en los períodos preoperatorio, postoperatorio inmediato (1 mes post cirugía) y posoperatorio alejado (2 a 3 años) de pacientes sometidos a MSA. Resultados: Se intervinieron 94 pacientes con una edad media de 57,6 ± 13,8 años. Se observó una reducción significativa del máximo espesor septal en el postoperatorio inmediato, que se mantuvo en el posoperatorio alejado, y en el tamaño auricular izquierdo en el postoperatorio inmediato que se profundizó en el alejado (p < 0,001). El gradiente intraventricular en reposo pasó de 49,2 mmHg basal a 6,4 mmHg (p < 0,001) y de allí a 4,6 mmHg (p=0,224) en los períodos inmediato y alejado, y con la maniobra de Valsalva de 93,9 mmHg a 8,7 mmHg (p < 0,001) y de allí a 7,2 mmHg (p=0,226) respectivamente. La función diastólica fue valorada como grado II en el 58,5 % de los pacientes en el preoperatorio, 51,7 % en el postoperatorio inmediato y 29 % en el postoperatorio alejado. En la misma línea se evidenció un cambio en la relación E/e´ y la presión sistólica pulmonar, grado de insuficiencia mitral y dimensiones de la aurícula izquierda. Conclusión: En esta cohorte de pacientes con MCHO, la realización de una MSA se asoció a una mejoría significativa de la función diastólica del VI, reducción de las presiones de llenado y pulmonares y grado de insuficiencia mitral, y remodelado reverso de la aurícula izquierda. Es posible que esta combinación de efectos explique los beneficios clínicos de la intervención.

ABSTRACT Background: Extended septal myectomy (ESM) has proven to be a useful strategy to improve symptoms in patients with hypertrophic obstructive cardiomyopathy (HOCM). Objectives: The aim of this study was to analyze the impact of ESM on short and mid-term structural and functional echocardiographic parameters in patients with HCM and left ventricular (LV) outflow tract dynamic obstruction. Methods: Preoperative, immediate postoperative (1 month after surgery) and late postoperative (2 to 3 years) echocardiograms of patients undergoing ESM were analyzed. Results: A total of 94 patients with mean age of 57.6 ± 13.8 years underwent surgery. A significant reduction was observed in maximum septal thickness in the immediate postoperative period, which was sustained in the late postoperative period, and in atrial size in the immediate postoperative period, which deepened in the late postoperative period (p < 0.001). Intraventricular gradient at rest dropped from 49.2 to 6.4 mmHg (p < 0.001) and then to 4.6 mmHg (p=0.224) in the immediate and late periods and with Valsalva maneuver from 93.9 to 8.7 mmHg (p < 0.001), and then to 7.2 mmHg (p=0.226), respectively. Preoperative diastolic function was assessed as grade II in 58.5% of patients, decreasing to 51.7% in the immediate postoperative period and to 29% in the late postoperative period. In agreement with these results, a change was evidenced in the E/e´ ratio and pulmonary artery systolic pressure, degree of mitral regurgitation and left atrial dimensions. Conclusion: In this cohort of patients with HOCM, ESM was associated with a significant improvement in LV diastolic function, reduction in filling and pulmonary pressures and degree of mitral regurgitation, and left atrial reverse remodeling. It is possible that this combination of effects explains the clinical benefits of the intervention.

Diferenças entre Duas Condições Cardíacas Hipertróficas Distintas: Doença de Fabry Versus Cardiomiopatia Hipertrófica / Differences Between Two Distinct Hypertrophic Cardiac Conditions: Fabry Disease versus Hypertrophic Cardiomyopathy

Resumo Fundamento A cardiomiopatia hipertrófica (CMH) e a doença de Fabry (DF) são doenças herdadas geneticamente com características fenotípicas de hipertrofia ventricular esquerda (HVE) que causam resultados cardíacos adversos. Objetivos Investigar as diferenças demográficas, clínicas, bioquímicas, eletrocardiográficas (ECG) e ecocardiográficas (ECO) entre CMH e DF. Métodos 60 pacientes com CMH e 40 pacientes com DF foram analisados retrospectivamente como uma subanálise do "estudo LVH-TR" após exclusão de pacientes com fibrilação atrial, ritmo de estimulação, bloqueios de ramo e bloqueios atrioventriculares (AV) de segundo e terceiro graus. O nível de significância foi aceito como <0,05. Resultados O sexo masculino (p=0,048) e a creatinina (p=0,010) são significativamente maiores a favor da DF; entretanto, infradesnivelamento do segmento ST (p=0,028), duração do QT (p=0,041), espessura do septo interventricular (SIVd) (p=0,003), espessura da parede posterior (PWd) (p=0,009), insuficiência mitral moderada a grave (IM) (p=0,013) e o índice de massa ventricular esquerda (IMVE) (p=0,041) são significativamente maiores a favor da CMH nas análises univariadas. Na análise multivariada, a significância estatística apenas permanece na creatinina (p=0,018) e na duração do intervalo QT (0,045). A DF foi positivamente correlacionada com a creatinina (rho=0,287, p=0,004) e a CMH foi positivamente correlacionada com o PWd (rho=0,306, p=0,002), IVSd (rho=0,395, p<0,001), IM moderada-grave (rho= 0,276, p<0,005), IMVE (rho=0,300, p=0,002), espessura relativa da parede (ERP) (rho=0,271, p=0,006), duração do QT (rho=0,213, p=0,034) e depressão do segmento ST (rho =0,222, p=0,026). Conclusão Características bioquímicas, ECG e ECO específicas podem auxiliar na diferenciação e no diagnóstico precoce da CMH e da DF.

Abstract Background Hypertrophic cardiomyopathy (HCM) and Fabry disease (FD) are genetically inherited diseases with left ventricular hypertrophy (LVH) phenotype characteristics that cause adverse cardiac outcomes. Objectives To investigate the demographic, clinical, biochemical, electrocardiographic (ECG), and echocardiographic (ECHO) differences between HCM and FD. Methods 60 HCM and 40 FD patients were analyzed retrospectively as a subanalysis of the 'LVH-TR study' after excluding patients with atrial fibrillation, pace rhythm, bundle branch blocks, and second and third-degree atrioventricular (AV) blocks. The significance level was accepted as <0.05. Results Male gender (p=0.048) and creatinine (p=0.010) are significantly higher in favor of FD; however, ST depression (p=0.028), QT duration (p=0.041), interventricular septum thickness (IVSd) (p=0.003), posterior wall thickness (PWd) (p=0.009), moderate-severe mitral regurgitation (MR) (p=0.013), and LV mass index (LVMI) (p=0.041) are significantly higher in favor of HCM in the univariate analyses. In multivariate analysis, statistical significance only continues in creatinine (p=0.018) and QT duration (0.045). FD was positively correlated with creatinine (rho=0.287, p=0.004) and HCM was positively correlated with PWd (rho=0.306, p=0.002), IVSd (rho=0.395, p<0.001), moderate-severe MR (rho=0.276, p<0.005), LVMI (rho=0.300, p=0.002), relative wall thickness (RWT) (rho=0.271, p=0.006), QT duration (rho=0.213, p=0.034) and ST depression (rho=0.222, p=0.026). Conclusion Specific biochemical, ECG, and ECHO characteristics can aid in the differentiation and early diagnosis of HCM and FD.

Enfermedad de Menetrier y su asociación a pólipos gástricos hiperplásicos / Menetrier's disease and its association with gastric hyperplastic polyps

RESUMEN La enfermedad de Menetrier representa una entidad clínica de baja prevalencia, caracterizada por la complejidad en su diagnóstico, especialmente debido a la necesidad de excluir su posible asociación con cáncer gástrico. En este contexto, se presenta el caso clínico de un varón de 54 años con síntomas gastrointestinales inespecíficos e hipoalbuminemia. Durante el procedimiento de endoscopía alta se observó un notorio engrosamiento de los pliegues gástricos asociado a lesiones polipoideas múltiples en estómago, a predominio de fondo y cuerpo. Dado que el paciente no mostró mejoría de sus síntomas y a la imposibilidad de descartar cáncer gástrico, se decidió como tratamiento la gastrectomía total. La pieza quirúrgica e histología permitió la confirmación de enfermedad de Menetrier.

ABSTRACT Menetrier's disease represents a low prevalence clinical entity, characterized by complexity in its diagnosis, particularly due to the need to exclude its potential association with gastric cancer. In this context, we present the clinical case of a 54-year-old male with nonspecific gastrointestinal symptoms and hypoalbuminemia. During the upper endoscopy procedure, a noticeable thickening of gastric folds was observed, associated with multiple polypoid lesions in the stomach, predominantly in the fundus and body. Since the patient did not show improvement in symptoms and given the inability to rule out gastric cancer, total gastrectomy was chosen as the treatment. Surgical specimen and histology confirmed the presence of Menetrier's disease.

Permanent pacemaker implantation after alcoholic septal ablation induced complete heart block: Long-term impact.

INTRODUCTION AND OBJECTIVES: Patients with hypertrophic obstructive cardiomyopathy (HOCM) that remain symptomatic despite optimized medical therapy often undergo alcohol septal ablation (ASA). One of the most frequent complications is complete heart block (CHB), requiring a permanent pacemaker (PPM) in variable rates of up to 20% of patients. The long-term impact of PPM implantation in these patients remains unclear. This study aimed to evaluate the long-term clinical outcomes in patients who implant PPM after ASA. METHODS: Patients who underwent ASA at a tertiary center were consecutively and prospectively enrolled. Patients with previous PPM or implantable cardio-defibrillator were excluded from this analysis. Patients with and without PPM implantation after ASA were compared based on their baseline characteristics, procedure data and three-year primary endpoint of composite of all-cause mortality and hospitalization and secondary endpoint of composite of all-cause mortality and cardiac cause hospitalization. RESULTS: Between 2009 and 2019, 109 patients underwent ASA, 97 of whom were included in this analysis (68% female, mean age 65.2 years old). 16 patients (16.5%) required PPM implantation for CHB. In these patients, no vascular access, pacemaker pocket or pulmonary parenchyma complications were noted. The baseline characteristics of comorbidities, symptoms, echocardiographic and electrocardiographic findings were identical in the two groups, with higher mean age (70.6±10.0 years vs. 64.1±11.9 years) and lower beta-blocker therapy rate (56% vs. 84%) in the PPM group. Procedure-related data showed higher creatine kinase (CK) peaks in the PPM group (1692 U/L vs. 1243 U/L), with no significant difference in the alcohol dose. At three years after ASA procedure, there were no differences in the primary and secondary endpoints between the two groups. CONCLUSIONS: Permanent pacemaker after ASA induced CHB do not affect long term prognosis in hypertrophic obstructive cardiomyopathy patients.

Prognosis after heart transplant in patients with hypertrophic and restrictive cardiomyopathy. A nationwide registry analysis.

INTRODUCTION AND OBJECTIVES: Posttransplant outcomes among recipients with a diagnosis of hypertrophic cardiomyopathy (HCM) or restrictive cardiomyopathy (RCM) remain controversial. METHODS: Retrospective analysis of a nationwide registry of first-time recipients undergoing isolated heart transplant between 1984 and 2021. One-year and 5-year mortality in recipients with HCM and RCM were compared with those with dilated cardiomyopathy (DCM). RESULTS: We included 3703 patients (3112 DCM; 331 HCM; 260 RCM) with a median follow-up of 5.0 [3.1-5.0] years. Compared with DCM, the adjusted 1-year mortality risk was: HCM: HR, 1.38; 95%CI, 1.07-1.78; P=.01, RCM: HR, 1.48; 95%CI, 1.14-1.93; P=.003. The adjusted 5-year mortality risk was: HCM: HR, 1.17; 95%CI, 0.93-1.47; P=.18; RCM: HR, 1.52; 95%CI, 1.22-1.89; P<.001. Over the last 20 years, the RCM group showed significant improvement in 1-year survival (adjusted R2=0.95) and 5-year survival (R2=0.88); the HCM group showed enhanced the 5-year survival (R2=0.59), but the 1-year survival remained stable (R2=0.16). CONCLUSIONS: Both RCM and HCM were linked to a less favorable early posttransplant prognosis compared with DCM. However, at the 5-year mark, this unfavorable difference was evident only for RCM. Notably, a substantial temporal enhancement in both early and late mortality was observed for RCM, while for HCM, this improvement was mainly evident in late mortality.

Cuando la genética estaba oculta. Miocardiopatía hipertrófica por variante MYBPC3 c.1102A>T (p.Lys368*) refractaria a manejo médico. Reporte de un caso

La miocardiopatía hipertrófica es cada vez más diagnosticada. Es una condición genética que genera hipertrofia miocárdica, fibrosis, isquemia y apoptosis con obstrucción del tracto de salida del ventrículo izquierdo. Puede generar síncope, falla cardíaca y muerte súbita. El tratamiento es farmacológico y se requiere cirugía si hay refractariedad. Se presenta un caso de miocardiopatía hipertrófica asociada a variante genética patogénica en un paciente no respondedor a manejo médico óptimo. La importancia de este artículo radica en lo determinante que es la genética para el abordaje diagnóstico y el establecimiento del origen y pronóstico de esta enfermedad.

Summary: Hypertrophic cardiomyopathy is increasingly diagnosed. It is a genetic condition that leads to myocardial hypertrophy, fibrosis, ischemia, and apoptosis with obstruction of the left ventricular outflow tract. It can result in syncope, heart failure, and sudden death. Treatment is pharmacological, and surgery is required in cases of refractoriness. A case of hypertrophic cardiomyopathy associated with a pathogenic genetic variant is presented in a patient unresponsive to optimal medical management. The importance of this article lies in how crucial genetics is for the proper diagnostic approach and the establishment of the origin and prognosis of this disease.

A miocardiopatia hipertrófica está sendo diagnosticada cada vez mais. É uma condição genética que leva à hipertrofia miocárdica, fibrose, isquemia e apoptose com obstrução do trato de saída do ventrículo esquerdo. Pode resultar em síncope, insuficiência cardíaca e morte súbita. O tratamento é farmacológico e a cirurgia é necessária em casos de refratariedade. Apresenta-se um caso de miocardiopatia hipertrófica associada a uma variante genética patogênica em um paciente não responsivo ao manejo médico ótimo. A importância deste artigo reside na determinante genética para a abordagem diagnóstica adequada e para o estabelecimento da origem e prognóstico desta doença.

Resource utilization and costs related to the management of obstructive hypertrophic cardiomyopathy under the Brazilian supplementary healthcare system´s perspective: results from a modified Delphi panel / Utilização de recursos e custos relacionados ao manejo da cardiomiopatia hipertrófica obstrutiva sob a perspectiva do sistema de saúde suplementar brasileiro: resultados de um painel Delphi modificado

Objective: To generate data on the costs associated with the diagnosis and treatment of obstructive ypertrophic cardiomyopathy (HCM) from the perspective of the private health system in Brazil. Methods: A modified Delphi panel including seven different specialists (three clinical cardiologists with experience in obstructive HCM, two hemodynamicists with experience in septal ablation and two cardiac surgeons with expertise in myectomy), from two Brazilian states (São Paulo and Pernambuco), was conducted between August and November 2022. Two rounds of questions about the use of healthcare resources according to the functional class (NYHA I-IV) and a panel in a virtual platform were conducted to obtain the final consensus. Micro-costing defined costs and unit values were determined based on official price lists. Results: The total diagnosis cost per patient was estimated at BRL 11,486.81. The obstructive HCM management costs analysis showed average annual costs per patient of BRL 17,026.74, BRL 19,401.46, BRL 73,310.07, and BRL 94,885.75 for the functional classes NYHA I, NYHA II, NYHA III, and NYHA IV, respectively. The average costs per patient related to procedures in a year were BRL 12,698.53, BRL 13,462.30, BRL 58,841.67, and BRL 75,595.90 for the functional classes NYHA I, II, III, and IV, respectively. Conclusions: The annual costs of HCM management increased according to the functional class, highlighting the need for safe and effective strategies to improve patient's NYHA functional class while promoting a decrease in the need for invasive therapies.

Objetivo: Gerar dados acerca dos custos associados ao diagnóstico e tratamento da cardiomiopatia hipertrófica (CMH) obstrutiva, sob a perspectiva do sistema de saúde privado no Brasil. Métodos: Um painel Delphi modificado incluindo sete especialistas (três cardiologistas clínicos com experiência em CMH obstrutiva, dois hemodinamicistas com experiência em ablação de septo e dois cirurgiões cardíacos com experiência em miectomia) de dois estados brasileiros (São Paulo e Pernambuco) foi conduzido entre agosto e novembro de 2022. Foram realizadas duas rodadas de perguntas acerca da utilização de recursos de acordo com a classe funcional (NYHA I-IV) e uma reunião virtual para obtenção do consenso final. Os custos foram definidos por meio de microcusteio, e os valores unitários foram definidos com base em listas de preço oficiais. Resultados: O custo total do diagnóstico por paciente foi estimado em R$ 11.486,81. A análise de custos de manejo da CMH obstrutiva mostrou custos médios anuais por paciente de R$ 17.026,74, R$ 19.401,46, R$ 73.310,07 e R$ 94.885,75 para as classes funcionais NYHA I, NYHA II, NYHA III e NYHA IV, respectivamente. Os custos médios por paciente relacionados a procedimentos em um ano foram de R$ 12.698,53, R$ 13.462,30, R$ 58.841,67 e R$ 75.595,90 para as classes NYHA I, II, III e IV, respectivamente. Conclusões: Os custos anuais com o manejo da CMH aumentam de acordo com a classe funcional, destacando a necessidade de estratégias seguras e eficazes capazes de melhorar a classe funcional NYHA do paciente, ao mesmo tempo que promove diminuição da necessidade de terapias invasivas.

Tratamento de queloides e cicatrizes hipertróficas: Uma revisão descritiva / Treatment of keloids and hypertrophic scars: A descriptive review

Queloides e cicatrizes hipertróficas são lesões formadas a partir da resposta fibroproliferativa anormal ao processo de cicatrização de feridas, gerando uma proliferação excessiva do colágeno nas lesões. Geralmente, predominam em pacientes do sexo feminino e em indivíduos com tons de pele mais escuros. A abordagem terapêutica dessas cicatrizes pode ser indicada de acordo com alguns critérios, como déficit funcional, tamanho e tempo de cicatrização da ferida. Nesse sentido, o presente estudo objetivou realizar uma revisão descritiva da literatura, buscando as evidências de tratamento dos últimos cinco anos neste tema. A revisão foi realizada com base no guideline PRISMA, utilizando as bases de dados PubMed, LILACS, Cochrane Library, SCOPUS, Web of Science e Grey Literature, entre os anos de 2018 e 2022. Foram encontrados 740 artigos, dos quais 16 ensaios clínicos randomizados foram selecionados. Foi evidenciado que manejo do queloide apresenta abordagem multimodal, não havendo um padrão-ouro de tratamento, com taxa de recorrência baixa. Além disso, a terapia combinada de diferentes agentes pareceu ser superior ao uso isolado de métodos terapêuticos no tratamento dessas lesões.

Keloids and hypertrophic scars are lesions formed from the abnormal fibroproliferative response to the wound healing process, generating excessive collagen proliferation in the lesions. They generally predominate in female patients and individuals with darker skin tones. The therapeutic approach to these scars can be indicated according to criteria such as functional deficit, size, and wound healing time. In this sense, the present study aimed to conduct a descriptive review of the literature, seeking evidence of treatment over the last five years. The review was carried out based on the PRISMA guideline, using the databases PubMed, LILACS, Cochrane Library, SCOPUS, Web of Science, and Grey Literature between 2018 and 2022. Seven hundred forty articles were found, of which 16 randomized clinical trials were selected. It was demonstrated that keloid management presents a multimodal approach, with no gold standard of treatment with a low recurrence rate. Furthermore, combined therapy with different agents appeared superior to the isolated therapeutic methods in treating these injuries.

Miocardiopatía Hipertrófica en ausencia de criterios de hipertrofia. Serie de casos / Hypertrophic cardiomyopathy in the absence of hypertrophy criteria. Case series

La miocardiopatía hipertrófica (MCH) es la miocardiopatía hereditaria más frecuente, su principal expresión fenotípica consiste en hipertrofia ventricular izquierda (HVI) en ausencia de condiciones de carga que la justifiquen. Cuando existe una variante genética patogénica se denomina MCH sarcomérica. Los criterios diagnósticos más aceptados son HVI ≥ 15 mm en cualquier segmento o ≥ 13 en ciertas condiciones, criterios que tienen tres inconvenientes: 1) La HCM es una patología donde la HVI es evolutiva, existiendo otros elementos más precoces, pero menos precisos, como criptas, bandas musculares y alteraciones de la válvula mitral y músculos papilares; 2) Pacientes de baja estatura pueden no alcanzar estos umbrales; 3) La MCH apical no queda siempre bien representada usando estos grosores, requiriendo indexar por tamaño del paciente y/o considerar la HVI relativa (relación grosor apical / basal que no debe superar 1). Presentamos una serie de casos con genotipo confirmado para MCH que no cumplen los criterios de HVI aceptados para MCH y donde se debe individualizar el diagnóstico considerando los tres elementos señalados.

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac condition; its phenotypic expression consists of ventricular hypertrophy (LVH) unrelated to loading conditions. In patients with a genetic pathogenic variant, the condition is termed sarcomeric HCM. Current diagnostic criteria are based on absolute left ventricular thickness, requiring ≥15 mm in any segment or ≥13 mm in particular conditions. These criteria have three pitfalls: 1) HCM is an evolving disease where LVH occurs gradually, with other early -but less precisephenotypic expressions such as myocardial crypts, muscular bands, or mitral and papillary muscle alterations; 2) Patients with short stature tend to have less LVH and do not reach the proposed thickness threshold. 3) Apical HCM is not correctly addressed in this cut-off as the heart tapers from base to apex, warranting indexing wall thickness to body size and using relative LVH in the apex (ratio from apex/base, abnormal,>1). This small case series includes three patients with a pathogenic genetic variant for HCM that doesn't satisfy the current criteria of LVH. For its precise assessment, the aforementioned points must be considered.

Estenosis hipertrófica del píloro en la Orinoquía colombiana (2010-2020)

Introducción: La hipertrofia del esfínter pilórico (EHP) es una condición que se caracteriza por la obstrucción del vaciamiento gástrico fisiológico y se considera una patología de resolución quirúrgica. Objetivo: Realizar la caracterización de los pacientes con hipertrofia congenita del píloro atendidos en el Hospital Regional de la Orinoquía entre 2010 y 2020. Metodología: Estudio observacional, descriptivo y retrospectivo en el cual se incluyeron los pacientes que consultaron al Hospital Regional de la Orinoquía entre el 01 de enero del 2010 y el 31 de diciembre del 2020 y que presentaron diagnóstico de hipertrofia congenita del píloro, identificados mediante los códigos CIE 10. Resultados: En total, se incluyeron 18 pacientes que cumplían con los criterios de selección. El promedio de edad de los participantes fue de 24,3 días de edad. La mayoría eran varones, asimismo, dos pacientes presentaban sobrepeso al nacer. El síntoma predominante fue la emesis posprandial en un 100 %. El diagnóstico se realizó mediante las medidas del píloro con ecografía abdominal y a la totalidad de los pacientes se les realizó piloromiotomía, de los cuales uno solo requirió una reintervención, sin embargo, ningún paciente falleció. Conclusiones: La hipertrofia congenita del píloro es una entidad patológica poco común, su síntoma clínico cardinal es la emesis postprandial. El método diagnóstico por excelencia es el estudio ecográfico. A pesar de su complejidad, esta entidad patológica tiene un buen pronóstico a corto y largo plazo.

Introduction: Hypertrophic pyloric stenosis (HPS) is a condition that is characterized by the obstruction of physiological gastric emptying and is considered a surgically-resolved pathology. Objective: To characterize patients with congenital hypertrophy of the pylorus treated at the Regional Hospital of Orinoquía between 2010 and 2020. Methods: Observational, descriptive and retrospective study of patients who were admitted at the Orinoquía Regional Hospital between January of 2010 and December of 2020. The patients that were included had a diagnosis of hypertrophic pyloric stenosis identified by the ICD-10 codes. Results: A total of patients were included by selection criteria. The average age of participants was 24.3 days old. Most of them were males and 2 patients were overweight at birth. The most common symptom was postprandial emesis in 100%. The diagnosis was made through measurements of pylorus measured with abdominal ultrasound. All the patients performed pyloromyotomy, and only one required a surgical reintervention, however, the mortality was 0. Conclusions: Congenital hypertrophy of pylorus is an uncommon pathology, whose cardinal symptom is postprandial emesis. The ideal diagnostic method is an ultrasound study. Despite its complexity, this pathology has a good short and long-term prognosis.

Desfibrilador subcutáneo. Primeros casos en el Instituto Nacional de Cardiología, incluyendo dos pacientes pediátricos / Use of subcutaneous cardioverter-defibrillator. First cases reported from National Institute of Cardiology Ignacio Chávez-Mexico

Resumen Introducción: El desfibrilador automático implantable (DAI) transvenoso es el tratamiento de elección para la prevención de muerte súbita (MS) cardiaca por arritmias ventriculares malignas. Su uso se puede ver limitado cuando existe infección del sistema de estimulación o en población pediátrica donde representa un reto por diversas razones, incluyendo: las mínimas dimensiones del sistema venoso de los niños, la longitud de los electrodos, el tamaño del generador, así como por la complejidad anatómica en casos de cardiopatía congénita asociada. Objetivo: El presente artículo tiene por objetivo presentar la primera serie de casos de pacientes mexicanos a los cuales se les implantó un DAI subcutáneo (DAI-SC) como terapia para la prevención de MS. Métodos: Se presentan los cuatro primeros casos que fueron implantados en el Instituto Nacional de Cardiología Ignacio Chávez con un DAI-SC (Emblem, Boston Scientific, EE.UU.), tres de ellos eran pacientes pediátricos, incluyendo el primer implante de este tipo de dispositivo en un paciente pediátrico en América Latina. Las técnicas de tres y dos incisiones fueron empleadas bajo anestesia general. Resultados: Se realizó el implante exitoso con técnica de tres incisiones en los dos primeros casos y con técnica de dos incisiones en los dos últimos casos. Se corroboró el adecuado funcionamiento del dispositivo en sala, con la verificación de terapia apropiada (65 J) de la fibrilación ventricular inducida mediante estimulación a 50 Hz. No hubo complicaciones inmediatas. Un paciente presentó descargas apropiadas a los dos meses del implante. En el seguimiento, un niño desarrolló erosión de la piel a nivel de la curva del electrodo en el esternón, sin datos de infección. En quirófano se resecó la piel dañada, se retiró el barril y la seda de fijación, se realizó lavado quirúrgico y se volvió a cerrar la piel, logrando así evitar el retiro del sistema. Conclusiones: El DAI-SC es una terapia alternativa al DAI endovenoso y puede ser considerado de primera elección en aquellos casos que no requieran de estimulación ventricular, incluyendo pacientes pediátricos. Pueden ocurrir complicaciones cutáneas, pero no representan una amenaza como las complicaciones venosas de los DAI convencionales.

Abstract Introduction: The transvenous implantable cardioverter defibrillator (ICD) is the treatment of choice for the prevention of sudden cardiac death (SCD). Its use could be restricted when device-related infections occurs or in the pediatric population. In the later, an ICD represents a challenge, due to the minimal dimensions of the venous system in children, the length of the electrodes, the size of the generator, as well as the anatomical complexity in cases with associated congenital heart disease. Objective: This article presents the first Mexican patients with a subcutaneous ICD (SC-ICD) implant as a therapy for the prevention of SCD. Methods: The first four cases were implanted at the Ignacio Chávez National Institute of Cardiology with a SC-ICD (Emblem, Boston Scientific, USA), three of them were pediatric patients, including the first implant of this type of device in a pediatric patient in Latin America. The 3-incision and 2-incision techniques were used under general anesthesia. Results: A successful implantation was obtained with the 3-incision technique in the first 2 cases and the last 2 with the 2-incision technique. Proper functioning of the device was corroborated in the operating room with proof of appropriate therapy (65 J) for ventricular fibrillation induced with 50 Hz stimulation. No immediate complications were observed. One patient had appropriate shocks two months after the implant. During follow-up, one child developed skin erosion at the level of the curve of the electrode on the sternum, with no signs of infection. In the operating room, the damaged skin was resected, the barrel and the fixation silk were removed, surgical lavage was performed, and the skin was closed again, thus avoiding removal of the system. Conclusions: The SC-ICD is an alternative therapy to the transvenous ICD. It can be considered first choice in subjects who do not require ventricular pacing, including pediatric patients. Skin complications can occur but do not pose a threat as venous complications of conventional ICDs.

Use of subcutaneous cardioverter-defibrillator. First cases reported from National Institute of Cardiology Ignacio Chávez-Mexico.

INTRODUCTION: The transvenous implantable cardioverter defibrillator (ICD) is the treatment of choice for the prevention of sudden cardiac death (SCD). Its use could be restricted when device-related infections occurs or in the pediatric population. In the later, an ICD represents a challenge, due to the minimal dimensions of the venous system in children, the length of the electrodes, the size of the generator, as well as the anatomical complexity in cases with associated congenital heart disease. OBJECTIVE: This article presents the first Mexican patients with a subcutaneous ICD (SC-ICD) implant as a therapy for the prevention of SCD. METHODS: The first four cases were implanted at the Ignacio Chávez National Institute of Cardiology with a SC-ICD (Emblem, Boston Scientific, USA), three of them were pediatric patients, including the first implant of this type of device in a pediatric patient in Latin America. The 3-incision and 2-incision techniques were used under general anesthesia. RESULTS: A successful implantation was obtained with the 3-incision technique in the first 2 cases and the last 2 with the 2-incision technique. Proper functioning of the device was corroborated in the operating room with proof of appropriate therapy (65 J) for ventricular fibrillation induced with 50 Hz stimulation. No immediate complications were observed. One patient had appropriate shocks two months after the implant. During follow-up, one child developed skin erosion at the level of the curve of the electrode on the sternum, with no signs of infection. In the operating room, the damaged skin was resected, the barrel and the fixation silk were removed, surgical lavage was performed, and the skin was closed again, thus avoiding removal of the system. CONCLUSIONS: The SC-ICD is an alternative therapy to the transvenous ICD. It can be considered first choice in subjects who do not require ventricular pacing, including pediatric patients. Skin complications can occur but do not pose a threat as venous complications of conventional ICDs.

INTRODUCCIÓN: El desfibrilador automático implantable (DAI) transvenoso es el tratamiento de elección para la prevención de muerte súbita (MS) cardiaca por arritmias ventriculares malignas. Su uso se puede ver limitado cuando existe infección del sistema de estimulación o en población pediátrica donde representa un reto por diversas razones, incluyendo: las mínimas dimensiones del sistema venoso de los niños, la longitud de los electrodos, el tamaño del generador, así como por la complejidad anatómica en casos de cardiopatía congénita asociada. OBJETIVO: El presente artículo tiene por objetivo presentar la primera serie de casos de pacientes mexicanos a los cuales se les implantó un DAI subcutáneo (DAI-SC) como terapia para la prevención de MS. MÉTODOS: Se presentan los cuatro primeros casos que fueron implantados en el Instituto Nacional de Cardiología Ignacio Chávez con un DAI-SC (Emblem, Boston Scientific, EE.UU.), tres de ellos eran pacientes pediátricos, incluyendo el primer implante de este tipo de dispositivo en un paciente pediátrico en América Latina. Las técnicas de tres y dos incisiones fueron empleadas bajo anestesia general. RESULTADOS: Se realizó el implante exitoso con técnica de tres incisiones en los dos primeros casos y con técnica de dos incisiones en los dos últimos casos. Se corroboró el adecuado funcionamiento del dispositivo en sala, con la verificación de terapia apropiada (65 J) de la fibrilación ventricular inducida mediante estimulación a 50 Hz. No hubo complicaciones inmediatas. Un paciente presentó descargas apropiadas a los dos meses del implante. En el seguimiento, un niño desarrolló erosión de la piel a nivel de la curva del electrodo en el esternón, sin datos de infección. En quirófano se resecó la piel dañada, se retiró el barril y la seda de fijación, se realizó lavado quirúrgico y se volvió a cerrar la piel, logrando así evitar el retiro del sistema. CONCLUSIONES: El DAI-SC es una terapia alternativa al DAI endovenoso y puede ser considerado de primera elección en aquellos casos que no requieran de estimulación ventricular, incluyendo pacientes pediátricos. Pueden ocurrir complicaciones cutáneas, pero no representan una amenaza como las complicaciones venosas de los DAI convencionales.

Miocardiopatía hipertrófica en la edad pediátrica. Revisión a propósito de una serie de casos

Introducción: La miocardiopatía hipertrófica (MCH) constituye una enfermedad compleja y variable en cuanto a morfología, fisiopatología, pronóstico y sobrevida. Se caracteriza por una hipertrofia del ventrículo izquierdo, aunque en ocasiones puede ser biventricular o ventricular derecha aislada. En la edad pediátrica predominan las causas no sarcoméricas. La ecocardiografía es el método diagnóstico más utilizado para caracterizar la morfología y repercusión hemodinámica, sin embargo, la resonancia magnética cardíaca (RMC) es de elección por aportar mayores ventajas morfológicas y funcionales. Las pruebas genéticas son de gran importancia en la determinación del diagnóstico etiológico, manejo terapéutico y pronóstico. El tratamiento tiene como objetivo principal mejorar la capacidad funcional y aliviar los síntomas. Los betabloqueantes no vasodilatadores son considerados de primera líneay en algunos casos se puede recurrir a terapias avanzadas como disopiramida o terapia de reducción septal (TRS), uso del cardiodesfibrilador implantable (CDI), y en ocasiones se debe considerar trasplante cardiaco en pacientes con síntomas refractarios al tratamiento médico y en MCH del tipo obstructivo. Materiales y métodos: Estudio observacional, descriptivo, corte transversal. Resultados: Se estudiaron 12 pacientes, desde enero de 2020 a diciembre de 2022, con edades comprendidas desde 5 meses hasta 16 años, diagnosticados con MCH de presentación clínica variable y de distintas etiologías. Conclusión: La MCH de causas no sarcoméricas como los síndromes malformativos y errores innatos del metabolismo son las que tienen peor pronóstico y sobrevida. La finalidad de detectar precozmente la MCH es el inicio temprano de la terapia específica, para así retrasar el compromiso cardiovascular y mejorar la sobrevida.

Introduction: Hypertrophic cardiomyopathy (HCM) is a complex and variable disease in terms of morphology, pathophysiology, prognosis and survival. It is characterized by left ventricular hypertrophy, although it can sometimes be biventricular or isolated right ventricular. In the pediatric population, non-sarcomeric causes predominate. Echocardiography is the most widely used diagnostic method to characterize morphology and hemodynamic repercussions; however, cardiac magnetic resonance imaging (CMR) is preferred because it provides greater morphological and functional advantages. Genetic tests are of great importance in determining the etiological diagnosis, therapeutic management and prognosis. The main objective of the treatment is to improve functional capacity and alleviate symptoms. Non-vasodilator beta-blockers are considered first-line treatment and in some cases advanced therapies such as disopyramide or septal reduction therapy (SRT), use of implantable cardioverter-defibrillator (ICD) can be used; heart transplantation should be considered in patients with symptoms refractory to medical treatment and in HCM of the obstructive type. Materials and methods: This was an observational, descriptive, cross-sectional study. Results: 12 patients were studied, from January 2020 to December 2022, with ages ranging from 5 months to 16 years, diagnosed with HCM of variable clinical presentation and of different etiologies. Conclusion: HCM from non-sarcomeric causes such as malformation syndromes and inborn errors of metabolism have the worst prognosis and survival. The purpose of early detection of HCM is the early initiation of specific therapy, in order to delay cardiovascular compromise and improve survival.

Paquimeningitis hipertrófica por enfermedad relacionada con IgG4 (ER-IgG4), reporte de un caso / Hypertrophic pachymeningitis due to IgG4-related disease (RD-IgG4). A case report

Introducción: La paquimeningitis hipertrófica (PH) es una entidad clínico-imagenológica caracterizada por un engrosamiento de la duramadre que puede ser focal o difuso manifestada por una variedad de síndromes neurológicos. Etiológicamente se clasifica en infecciosa, neoplásica, autoinmune e idiopática. Se ha demostrado que muchos de estos casos, antes idiopáticos, caen en el espectro de la enfermedad relacionada con IgG4. Objetivo: Describir el caso de una paciente asistida en nuestro servicio por compromiso neurológico por PH con diagnóstico inicial de tumor miofibroblástico inflamatorio (TMI) y diagnóstico final de enfermedad relacionada con IgG4. Caso: Mujer de 25 años con cuadro neurológico de 3 años de evolución caracterizado inicialmente por hipoacusia derecha, que evoluciona con cefalea y diplopía. Se realiza resonancia magnética nuclear (RMN) de encéfalo donde se evidencia engrosamiento paquimeníngeo con compromiso de estructuras vasculonerviosas en la punta del peñasco, seno cavernoso, agujero rasgado y quiasma óptico. Se presenta a la consulta con resultado de biopsia incisional que informa de lesión proliferativa que combina elementos fibrosos, de disposición fascicular o arremolinada con bandas colagenizadas con infiltrado linfoplasmocitario denso y algunos macrófagos, con tinción negativa para ALK 1 y con diagnóstico de tumor miofibroblástico inflamatorio. Por sospecha de enfermedad relacionada con IgG4 (ER-IgG4) se envía pieza de biopsia a revisión y se solicitan estudios complementarios pertinentes. Revisión de biopsia: fibrosis de tipo no estoriforme, infiltrado con predominio linfoplasmocitario, en otros cortes se reconocen también histiocitos y polimorfonucleares, sin granulomas ni atipias. Tinción para gérmenes negativos. Inmunohistoquímica con 50-60 células IgG4+/HPF e intervalo del 15 al 20%, CD68+ en histiocitos, CD1a− y S100...(AU)

Introduction: Hypertrophic pachymeningitis (HP) is a clinico-radiological entity characterized by a thickening of the dura mater that may be focal or diffuse and manifested by a variety of neurological syndromes. Aetiologically, it is classified as infectious, neoplastic, autoimmune, and idiopathic. Many of these formerly idiopathic cases have been shown to fall into the spectrum of IgG4-related disease. Objective: To describe the case of a patient attended for neurological involvement due to hypertrophic pachymeningitis with initial diagnosis of inflammatory myofibroblastic tumour and final diagnosis of IgG4-related disease. Case: A 25-year-old woman with neurological symptoms of 3 years’ evolution characterized initially by right hypoacusis, evolving with headache and diplopia. Magnetic resonance imaging (MRI) of the encephalon showed pachymeningeal thickening with involvement of vasculo-nervous structures in the tip of the cerebellum, cavernous sinus, ragged foramen, and optic chiasm. The patient presented for consultation with the result of an incisional biopsy that reported a proliferative lesion combining fibrous elements of fascicular or swirling arrangement with collagenized streaks with dense, lymphoplasmacytic infiltrate and some macrophages, with negative staining for ALK 1, with a diagnosis of inflammatory myofibroblastic tumour.Due to suspicion of IgG4-related disease (IgG4-RD) the biopsy was sent for review and pertinent complementary studies were requested.(AU)

Hypertrophic pachymeningitis due to IgG4-related disease (RD-IgG4). A case report.

INTRODUCTION: Hypertrophic pachymeningitis (HP) is a clinico-radiological entity characterized by a thickening of the dura mater that may be focal or diffuse and manifested by a variety of neurological syndromes. Aetiologically, it is classified as infectious, neoplastic, autoimmune, and idiopathic. Many of these formerly idiopathic cases have been shown to fall into the spectrum of IgG4-related disease. OBJECTIVE: To describe the case of a patient attended for neurological involvement due to hypertrophic pachymeningitis with initial diagnosis of inflammatory myofibroblastic tumour and final diagnosis of IgG4-related disease. CASE: A 25-year-old woman with neurological symptoms of 3 years' evolution characterized initially by right hypoacusis, evolving with headache and diplopia. Magnetic resonance imaging (MRI) of the encephalon showed pachymeningeal thickening with involvement of vasculo-nervous structures in the tip of the cerebellum, cavernous sinus, ragged foramen, and optic chiasm. The patient presented for consultation with the result of an incisional biopsy that reported a proliferative lesion combining fibrous elements of fascicular or swirling arrangement with collagenized streaks with dense, lymphoplasmacytic infiltrate and some macrophages, with negative staining for ALK 1, with a diagnosis of inflammatory myofibroblastic tumour. Due to suspicion of IgG4-related disease (IgG4-RD) the biopsy was sent for review and pertinent complementary studies were requested. BIOPSY REVIEW: Non storiform fibrosis, predominantly lymphoplasmacytic infiltrate, histiocytes, and polymorphonuclear infiltrate in sectors, without granulomas or atypia. Staining for germs negative. Immunohistochemistry with 50-60 IgG4+/HPF cells and range of 15%-20%, CD68+ in histiocytes, CD1a-, S100-. The patient presented deterioration of visual acuity due to ophthalmic nerve involvement, so glucocorticoid treatment was started in pulses and rituximab with regression of symptoms and imaging improvement of the lesions. CONCLUSION: HP is a clinical imaging syndrome with variable symptoms and aetiologies that poses a diagnostic challenge. In this case the initial diagnosis was inflammatory myofibroblastic tumour, which is a neoplasm of variable behaviour, locally aggressive, and can metastasize; it is one of the main differential diagnoses of IgG4-related disease because they share anatomopathological features, including storiform fibrosis. IgG4-RD is an immune-mediated condition that can have single or multiple involvement. Its diagnosis is complex when it presents with single organ involvement or in non-typical organs (CNS, meninges) in which data are scarce, as in the case of our patient with single organ involvement of the CNS. Although there are classification criteria to guide non-specialists in the diagnosis, the sum of the clinical picture, imaging, laboratory, pathological anatomy, and immunohistochemistry will always be evaluated together for a definitive diagnosis.