Arritmia maligna en prolapso de la válvula mitral: ¿es suficiente el tratamiento quirúrgico? / Malignant arrhythmia in mitral valve prolapse: is surgical management enough?

Resumen El prolapso de la válvula mitral es una enfermedad ampliamente conocida, la cual es benigna en la mayoría de casos; sin embargo, puede estar en asociación con alteraciones del ritmo cardiaco, específicamente arritmias ventriculares malignas y muerte cardiaca súbita. Pese a que esta asociación y su desenlace están descritos en la literatura médica, su baja incidencia conduce a la falta de evidencia en cuanto a su manejo y estratificación. Se presenta el caso de una mujer joven, cuya manifestación inicial fue síncope, con posterior desarrollo de insuficiencia mitral grave, con hallazgo de extrasístoles ventriculares frecuentes, en quien se realizó tratamiento quirúrgico con plastia mitral y crioablación del músculo papilar anterolateral. La evolución clínica fue satisfactoria, ya que se evidenció mejoría de la sintomatología y control de la carga arrítmica.

Abstract Mitral valve prolapse is a well-known condition that is generally benign, but it can be associated with cardiac arrhythmias, particularly malignant ventricular arrhythmias and sudden cardiac death. This association and its outcome have been described in medical literature, but the low incidence leads to a lack of evidence regarding its management and stratification.The case of a young woman is presented, whose initial manifestation was syncope, with subsequent development of severe mitral insufficiency, followed by severe mitral regurgitation and the discovery of frequent ventricular extrasystoles. She underwent surgical repair with mitral valve plasty and cryoablation of the anterior papillary muscle. The clinical outcome was favorable, as evidenced by an improvement in symptoms and control of arrhythmia burden.

Cardiac anomalies in pediatric patients with pectus excavatum

SUMMARY OBJECTIVE: Pectus excavatum is the most prevalently encountered deformity of the thoracic wall. It can be accompanied by congenital anomalies. METHODS: The cardiac findings of 36 children who were diagnosed at the Thoracic surgery outpatient clinic of our university between 10 February 2021 and 1 October 2021 and 57 healthy children in a similar age group were analyzed. RESULTS: We determined that the pectus excavatum patients in our study had a higher risk of having mitral insufficiency, mitral valve prolapse, tricuspid valve prolapse, cardiac malposition, and congenital heart disease. CONCLUSION: Our study showed that the prevalence of cardiac pathologies was higher in pediatric pectus excavatum patients than in healthy children in the control group. Thus, we recommend clinicians to refer pediatric pectus excavatum patients to pediatric cardiology outpatient clinics for the early diagnosis of potential cardiac pathologies.

Presentación inusual del síndrome de Lutembacher / Unusual presentation of Lutembacher’s syndrome

Resumen Introducción: El síndrome de Lutembacher corresponde a la asociación de un defecto interauricular (congénito o iatrogénico) e insuficiencia o estenosis mitral (congénita o adquirida). La etiología reumática es la causa más frecuente del compromiso mitral. Tiene una prevalencia reportada de 0.001 por cada 1.000.000 habitantes. Caso clínico: Paciente femenina de 6 años con cuadro de 10 meses de palpitaciones asociadas a dolor torácico. Se realizó un electrogardiograma en el que se evidenció bloqueo incompleto de la rama derecha del haz de His y prolongación del intervalo PR, además de un ecocardiograma en el que se visualizó una comunicación interauricular tipo ostium secundum no restrictiva de 28 mm, con cortocircuito de izquierda a derecha, dilatación del ventrículo derecho, prolapso de válvula mitral, valvas engrosadas e insuficiencia mitral moderada a grave. Se realizó plastia de válvula mitral y cierre quirúrgico de la comunicación interauricular, sin complicaciones. Durante el seguimiento se encuentra asintomática desde el punto de vista cardiovascular, en manejo farmacológico. Conclusiones: La asociación Lutembacher tiene una prevalencia de 0.001/1.000.000 habitantes; la mayoría tiene etiología reumática. La paciente no tiene historia de fiebre reumática y sería la paciente más joven reportada en la literatura con síndrome de Lutembacher.

Abstract Introduction: Lutembacher’s syndrome corresponds to the association of an atrial septal defect (congenital or iatrogenic) and mitral regurgitation or stenosis (congenital or acquired), with rheumatic etiology being the most-frequent cause of mitral regurgitation. It has a reported prevalence of 0.001 for every 1,000,000 inhabitants. Clinical case: Female patient six years of age with a 10-month condition of palpitations associated with chest pain. An electrocardiogram was performed with evidence of incomplete right His bundle branch block and PR interval prolongation; additionally, an echocardiogram showed 28-mm non-restrictive ostium secundum atrial septal defect, with left-to-right shunt, right ventricular dilation, mitral valve prolapse, thickened valves, and moderate-to-severe mitral regurgitation. Mitral valve plasty and surgical closure of the atrial septal defect were performed, without complications. During follow-up, she was asymptomatic from the cardiovascular point of view, under pharmacological management. Conclusions: Lutembacher’s association has a prevalence of 0.001/1´000.000 inhabitants; the majority with rheumatic etiology. Our patient has no history of rheumatic fever and would be the youngest patient reported in the literature with Lutembacher’s syndrome.

Echocardiographic Abnormalities in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Patients.

Cardiovascular abnormalities, such as left ventricular hypertrophy and valvular disorders, particularly mitral valve prolapse, have been described as highly prevalent among adult patients with autosomal dominant polycystic kidney disease (ADPKD). The present study aimed to assess echocardiographic parameters in a large sample of both normotensive and hypertensive ADPKD patients, regardless of kidney function level, and evaluate their association with clinical and laboratorial parameters. A retrospective study consisted of the analysis of clinical, laboratorial, and transthoracic echocardiograms data retrieved from the medical records of young adult ADPKD outpatients. A total of 294 patients (120 M/174 F, 41.0 ± 13.8 years old, 199 hypertensive and 95 normotensive) with a median estimated glomerular filtration rate (eGFR) of 75.5 mL/min/1.73 m2 were included. The hypertensive group (67.6%) was significantly older and exhibited significantly lower eGFR than the normotensive one. Increased left ventricular mass index (LVMI) was seen in 2.0%, mitral valve prolapse was observed in 3.4%, mitral valve regurgitation in 15.3%, tricuspid valve regurgitation in 16.0%, and aortic valve regurgitation in 4.8% of the whole sample. The present study suggested that the prevalence of mitral valve prolapse was much lower than previously reported, and increased LVMI was not seen in most adult ADPKD patients.

Mitral valve prolapse in patients with atrial septal defect: A quantitative three-dimensional echocardiographic analysis.

INTRODUCTION AND OBJECTIVES: Mitral valve (MV) prolapse is highly prevalent in patients with atrial septal defect (ASD). Abnormal left ventricular geometry has been proposed as the main mechanism of MV prolapse in ASD, however, the changes in the morphology of the MV apparatus remain to be clarified. Our aim was to assess the MV geometry in patients with ASD and MV prolapse. METHODS: We evaluated 99 patients (73% female, median age 40 years) with ASD who underwent a three-dimensional transesophageal echocardiogram. Three-dimensional analysis of the MV was done using dedicated automated software. Transthoracic echocardiographic parameters were assessed post ASD closure in 28 patients. RESULTS: MV prolapse was found in 39% of patients. Although smaller left ventricular dimensions and greater interatrial shunt were found in patients with MV prolapse compared with those without prolapse, there was no difference in the subvalvular parameters. MV prolapse was associated with larger mitral anterior-posterior diameter, anterolateral-posteromedial diameter, anterior perimeter, posterior perimeter, total perimeter, and anterior leaflet area (all p < 0.05). Mitral regurgitation was more frequent in patients with MV prolapse (80 vs. 48%, p = 0.002). CONCLUSIONS: In patients with ASD, the main mechanism of MV prolapse is the presence of an organic primary process of the MV apparatus (excessive anterior mitral leaflet tissue and mitral annular enlargement).

Evaluation of inflammation markers in mitral valve prolapse.

OBJECTIVE: Mitral valve prolapse (MVP) is the most common cause of mitral regurgitation in developed countries. The role of inflammation in the pathogenesis of MVP is still not clear. In this study, we aimed to investigate how inflammatory markers such as monocyte/high-density lipoprotein ratio (MHR), lymphocyte/monocyte ratio (LMR), neutrophil/lymphocyte ratio (NLR), and platelet/neutrophil ratio (PLR) are affected in MVP patients. METHODS: In this retrospective study, we included 461 patients with MVP and 459 normal echocardiographic patients, matched with gender and age. Inflammatory markers and all variables were compared between the two groups. RESULTS: There were no statistically significant differences in age, sex, or body mass index between the two groups. Neutrophil counts (4,960 [3,900-6,780]. 4,200 [3,800-5,600], p < 0.001), NLR (2.488 [1.72-4.51], 1.857 [1.49-2.38], p < 0.001), MHR (14.9 [11.9-18.6], 12.2 [9.4-17.3], p = 0.003), PLR (122.4 [85-171], 104.4 [85-130], p < 0.001), and CRP (0.71 ± 0.50, 0.67 ± 0.33 p < 0.001) were significantly higher, and LMR (3.75 [2.75-5.09], 4.06 [3.12-4.83] p = 0.016) was significantly lower in the MVP group than the control group, respectively. In logistic regression analysis, NLR (odds ratio [OR]: 1.058 [1.047-1.072]; p < 0.001), LMR (OR: 1.560 [1.211-2.522]; p = 0.027), and PLR (OR: 1.015 [1.012-1.019]; p = 0.003) were found to be independent predictors for MVP presence. CONCLUSIONS: These parameters can be used as a simple, low-cost, practical tool to detect inflammation in MVP.

OBJETIVO: El prolapso de la válvula mitral (MVP) es la causa más común de insuficiencia mitral en los países desarrollados. El papel de la inflamación en la patogenia del MVP aún no está claro. En este estudio, nuestro objetivo fue investigar cómo los marcadores inflamatorios como la proporción monocitos/HDL (MHR), la proporción linfocitos/monocitos (LMR), la proporción neutrófilos/linfocitos (NLR) y la proporción plaquetas/neutrófilos (PLR) se ven afectados en pacientes con MVP. MÉTODOS: En este estudio retrospectivo, incluimos a 461 pacientes con PVM y 459 pacientes ecocardiográficos normales, emparejados por sexo y edad. Se compararon los marcadores inflamatorios y todas las variables entre los dos grupos. RESULTADOS: No hubo diferencias estadísticamente significativas en edad, sexo o índice de masa corporal entre los dos grupos. El recuento de neutrófilos (4,960 [3,900-6,780], 4,200 [3,800-5,600], p < 0.001), NLR (2.488 [1.72-4.51], 1,857 [1.49-2.38], p < 0.001), MHR (14.9 [11.9-18.6]), (12.2 [9.4-17.3], p = 0.003), PLR (122.4 [85-171], 104.4 [85-130], p < 0.001) y PCR (0.71 ± 0.50, 0.67 ± 0.33 p < 0.001) fueron significativamente mayores y LMR (3.75 [2.75-5.09], 4.06 [3.12-4.83] p = 0.016) fue significativamente menor en el grupo MVP que en el grupo de control, respectivamente. En el análisis de regresión logística; NLR (OR: 1.058 [1.047-1.072]; p < 0.001), LMR (OR: 1.560 [1.211-2.522]; p = 0.027) y PLR (OR: 1.015 [1.012-1.019]; p = 0.003) se encontraron como predictores independientes para la presencia de MVP. CONCLUSIONES: Estos parámetros pueden utilizarse como una herramienta sencilla, práctica y de bajo costo para detectar la inflamación en el PVM.

Disjunção do anel mitral: modalidades diagnósticas, implicações clínicas e evolução prognóstica / Mitral annulus disjunction: diagnostic modalities, clinical implications, and prognostic progression

A disjunção do anel mitral (DAM) é uma inserção anormal da linha de flexão do anel mitral na parede atrial. O anel mostra uma separação (disjunção) entre a junção folheto posterior-parede atrial e a crista miocárdica ventricular esquerda.1 A DAM foi descrita pela primeira vez há mais de 30 anos em estudo de autópsia, estando relacionada com prolapso da valva mitral (PVM) em 92% dos casos.2 Desde então, foram realizados diversos estudos, sendo a prevalência de DAM em pacientes com PVM reportada de forma variável, podendo ou não estar associada à insuficiência mitral. O ecocardiograma transtorácico (ETT) faz parte da avaliação inicial do prolapso valvar mitral, permitindo o diagnóstico e a avaliação de complicações relacionadas. Com a evolução de novos métodos diagnósticos, a ressonância magnética cardíaca (RMC) e o ecocardiograma transesofágico (ETE) passaram a aprimorar a avaliação dessa patologia, bem como de sua extensão e localização. Contudo, as características fenotípicas do PVM que estão mais associadas a DAM permanecem incertas, sobretudo devido ao número limitado de pacientes, nos estudos clássicos sobre o tema. Portadores de DAM podem desenvolver sintomas relacionados a arritmias ventriculares, configurando a síndrome arrítmica da DAM (SDAM), podendo evoluir para morte súbita. Na literatura, os dados prognósticos ainda são conflitantes entre os diversos estudos acerca do tema, indo desde critérios claros de diagnóstico, o melhor método de imagem a ser aplicado, o tratamento e o prognóstico. Esta revisão descreve as características da DAM associada ou não ao prolapso valvar, auxiliando no diagnóstico e na conduta dessa importante patologia. (AU)

Mitral annulus disjunction (MAD) is an abnormal insertion of the flexion line of the mitral annulus into the atrial wall. The annulus presents a separation (disjunction) between the posterior leaflet­atrial wall junction and the left ventricular myocardial crest.1 MAD was first described more than 30 years ago in an autopsy study and is reportedly related to mitral valve prolapse (MVP) in 92% of cases.2 Since then, several studies have been conducted, and reports on the prevalence of MAD in patients with MVP have varied. Ultimately, it may or may not be associated with mitral regurgitation. Transthoracic echocardiography is part of initial MVP assessment, allowing its diagnosis and the assessment of related complications. As new diagnostic methods emerged, cardiac magnetic resonance imaging and transesophageal echocardiography improved the assessment of this pathology in terms of its diagnosis, extension, and location. However, the phenotypic characteristics of MVP that are more closely associated with MAD remain uncertain mainly due to the limited number of patients in classic studies on the subject. Patients with MAD may develop symptoms related to ventricular arrhythmias, configuring the MAD arrhythmic syndrome, which may progress to sudden death. The literature presents conflicting prognostic data among several studies on the subject from clear diagnostic criteria and best imaging method to be used to treatment and prognosis. This review describes MAD characteristics associated (or not) with valve prolapse to improve the diagnosis and management of this important pathology. (AU)

[Comportamiento y decisión cardiovascular en el síndrome de MASS. Reporte de un caso y revisión de la literatura]. / Cardiovascular behavior and decision in MASS syndrome. A case report and literature review

MASS syndrome (disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin) is a rare genetic disease with a phenotype similar to that of Marfan syndrome, but with important cardiovascular differences like the absence of aortic root aneurysm and marked mitral affection. We present a case of a patient with MASS syndrome and review the limited literature addressing these differences, and we discuss the impact this information may have in decisions regarding cardiovascular surgery.

El síndrome de MASS (que afecta a: válvula mitral [M], aorta [A], piel [S, skin], sistema musculoesquelético [S, skeletal]) es una rara enfermedad genética con un fenotipo similar al del síndrome de Marfan, pero con diferencias cardiovasculares importantes, como ausencia de afección de la raíz aórtica y marcada afectación mitral. Presentamos el caso de una paciente con síndrome de MASS y revisamos la limitada literatura con respecto a estas diferencias; finalmente discutimos acerca del impacto que pudiera tener esta información con respecto a las decisiones desde el punto de vista de la cirugía cardiovascular.

Síndrome de Peutz-Jeghers, telangiectasias y prolapso de la válvula mitral. Presentación de caso y asesoramiento genético / Peutz-Jeghers syndrome, telangiectasias, and mitral valve prolapse. Case presentation and genetic counseling

Introducción: El síndrome de Peutz-Jeghers se caracteriza por hiperpigmentación mucocutánea y hamartomas gastrointestinales que pueden aparecer desde el estómago hasta el ano. Tiene un patrón de herencia autosómico dominante y expresividad variable. El diagnóstico se basa en los hallazgos clínicos y la apariencia histológica de los pólipos. No ha sido reportado hasta ahora asociación de esta entidad a telangiectasias y prolapso de la válvula mitral. Objetivo: Describir los hallazgos que permitieron establecer el diagnóstico de Síndrome de Peutz-Jeghers en un paciente y brindar asesoramiento genético. Presentación del caso: Paciente masculino de 36 años de edad con antecedentes de prolapso de la válvula mitral que acude a consulta de genética clínica con su esposa para solicitar asesoramiento genético, debido a que tienen una hija con diagnóstico de Síndrome de Peutz-Jeghers y desean conocer el riesgo de tener otro hijo afectado. Al examen físico se observa mácula hiperpigmentada en labio inferior y varias de estas en encías. Con tales hallazgos y el antecedente de tener la hija Síndrome de Peutz-Jeghers se emite el mismo diagnóstico en el padre. Como dato de interés se constatan en este individuo múltiples telangiectasias en tórax, cuello y espalda. Los estudios realizados en busca de la causa de estas fueron negativos. Conclusiones: Los antecedentes y los hallazgos encontrados en el paciente permitieron realizar el diagnóstico de Peutz-Jeghers y brindar asesoramiento genético. Se presenta el primer reporte de esta enfermedad asociada a telangiectasias y prolapso de la válvula mitral en la literatura científica(AU)

Introduction: Peutz-Jeghers syndrome is characterized by mucocutaneous hyperpigmentation and gastrointestinal hamartomas that can appear from the stomach to the anus. It has an autosomal dominant inheritance pattern and variable expressiveness. The diagnosis is based on clinical findings and histological appearance of the polyps. No association between this entity and telangiectasias and mitral valve prolapse has been reported so far. Objective: To describe the findings that made it possible to establish the diagnosis of Peutz-Jeghers syndrome in a patient and to provide genetic counseling. Case presentation: Thirty-six-year-old male patient with a history of mitral valve prolapse who attends a clinical genetics consultation with his wife to request genetic counseling due to the fact that their daughter was diagnosed with Peutz-Jeghers Syndrome and they want to know about the risk of having another affected child. On physical examination, a hyperpigmented macule on the lower lip and several of these on the gums were observed. With such findings and the antecedent of having a daughter with Peutz-Jeghers syndrome, the same diagnosis is made in the father. As data of interest, multiple telangiectasias on the thorax, neck and back were found in this individual. The studies carried out to identify the same cause were negative. Conclusions: The history and findings in this patient allowed us to make the diagnosis of Peutz-Jeghers syndrome as well as to provide genetic counselling. The first report of this disease associated with telangiectasias and mitral valve prolapse is presented in the scientific literature(AU)

Endocarditis infecciosa con hemocultivos negativos en prolapso de la válvula mitral. Presentación de caso / Infective endocarditis with negative blood cultures in mitral valve prolapse. Case presentation

Introducción: La Endocarditis infecciosa sigue desafiando a la Medicina moderna a pesar de no ser una entidad frecuente. Objetivo: Se presenta un caso con una lesión valvular previa no diagnosticada antes, y sin síntomas, y que se consideró el diagnóstico tempranamente de endocarditis en el nivel hospitalario. Presentación del caso: Paciente de 20 años, mujer, con antecedentes de salud referidos, fumadora. Ingresa en sala del Servicio de Medicina el 21 de enero de 2020 por fiebres que se mantienen todo el día de 38-38,50 C, con picos que alcanzan los 400 C con escalofríos en determinados momentos. Desde hace un mes presenta esta sintomatología. Ruidos cardiacos rítmicos, taquicárdicos, de buena intensidad. Clic sistólico con arrastre sistólico fuerte de regurgitación IV/VI audible en foco mitral con frémito que se irradia a la axila, anemia, VSG acelerada, leucocitosis con desviación izquierda, hemocultivos negativos y en ecocardiograma prolapso de válvula mitral, valva anterior y posterior, con regurgitación que ocupa toda la aurícula izquierda hasta el techo de la misma. Múltiples vegetaciones en cara auricular de valva posterior de válvula mitral, la mayor de 7 x 3 mm. Conclusiones: El método clínico es fundamental en el proceso diagnóstico en la práctica clínica secundado por los medios diagnósticos como en la enfermedad que nos ocupa(AU)

Introduction: Infective endocarditis continues to be a great challenge for modern medicine although it is not a frequent entity. Objective: We present a case of an undiagnosed previous valve lesion without symptoms. The early diagnosis of endocarditis was made at the hospital level. Case Presentation: A 20-year-old woman, smoker, with previous history of good health was admitted to the medical ward on January 21, 2020. The patient reported continuous fever (38-38,50 C) throughout the day, with spikes up to 400 C and intermittent chills. She has been having these symptoms for a month. Rhythmic heart sounds and high intensity tachycardia and systolic click with strong systolic displacement of regurgitation grade IV/VI audible in mitral area with fremitus radiating to the armpit were heard. Anemia, accelerated ESR, leukocytosis with left deviation, and negative blood cultures were confirmed. The echocardiogram showed a mitral valve prolapse with regurgitation of anterior and posterior valves that occupies all the left atrium until its top. There was multiple vegetation in the atrial side of the posterior leaflet of the mitral valve; the greatest is 7 x 3 mm. Conclusions: The clinical method is essential in the diagnostic process performed in clinical practice supported by diagnostic means, as in the current case(AU)

Understanding Non-P2 Mitral Regurgitation Using Real-Time Three-Dimensional Transesophageal Echocardiography: Characterization and Factors Leading to Underestimation.

BACKGROUND: P2 prolapse is a common cause of degenerative mitral regurgitation (MR); echocardiographic characteristics of non-P2 prolapse are less known. Because of the eccentric nature of degenerative MR jets, the evaluation of MR severity is challenging. The aim of this study was to test the hypotheses that (1) the percentage of severe MR determined by transthoracic echocardiography (TTE) would be lower compared with that determined by transesophageal echocardiography (TEE) in patients with non-P2 prolapse and also in a subgroup with "horizontal MR" (a horizontal jet seen on TTE that hugs the leaflets without reaching the atrial wall, particularly found in non-P2 prolapse) and (2) the directions of MR jets between TTE and real-time (RT) three-dimensional (3D) TEE would be discordant. METHODS: One hundred eighteen patients with moderate to severe and severe degenerative MR defined by TEE were studied. The percentage of severe MR between TTE and TEE was compared in P2 and non-P2 prolapse groups and in horizontal and nonhorizontal MR groups. Additionally, differences in the directions of the MR jets between TTE and RT 3D TEE were assessed. RESULTS: Eighty-six percent of patients had severe MR according to TEE. TTE underestimated severe MR in the non-P2 group (severe MR on TTE, 57%; severe MR on TEE, 85%; P < .001) but not in the P2 group (severe MR on TTE, 79%; severe MR on TEE, 91%; P = .157). Most "horizontal" MR jets were found in the non-P2 group (85%), and this subgroup showed even more underestimation of severe MR on TTE (TTE, 22%; TEE, 89%; P < .001). There was discordance in MR jet direction between two-dimensional TTE and RT 3D TEE in 41% of patients. CONCLUSIONS: Non-P2 and "horizontal" MR are significantly underestimated on TTE compared with TEE. There is substantial discordance in the direction of the MR jet between RT 3D TEE and TTE. Therefore, TEE should be considered when these subgroups of MR are observed on TTE.

Relation of mitral valve morphology to surgical repair results in patients with mitral valve prolapse: A three-dimensional transesophageal echocardiography study.

BACKGROUND: The identification of predictors of mitral valve (MV) repair results is important for quality improvement in cardiac surgery. The aim of this study was to evaluate the relationship between MV morphological quantification by three-dimensional (3D) transesophageal echocardiography and mitral repair results. METHODS: Fifty-four patients with MV prolapse who were submitted to surgical repair were divided into 2 groups according to their postoperative mitral regurgitation (MR) degree (group 1, grade 0-I MR; group 2, ≥grade II MR). Morphological parameters related to the mitral ring, dimension of leaflets and prolapse, coaptation line, distance from papillary muscles to the leaflet border and valve angles were analyzed by 3D MV quantification. Cardiac remodeling and MR quantitative parameters were also evaluated. RESULTS: There was no correlation between 3D MV quantification and surgical results; a multivariate analysis did not show an association between morphological parameters and surgical outcome. The distance from the posteromedial papillary muscle to the leaflet border was higher (P = .038) in patients with ≥grade II postoperative MR. The left atrial diameter, left ventricular end-systolic diameter, left ventricular end-diastolic and end-systolic volumes were larger in patients with a significant residual MR (P < .05). CONCLUSION: Three-dimensional MV quantification did not predict the postoperative MR grade; however, the distance from the posteromedial papillary muscles to the leaflet border may be related to suboptimal repair results. Furthermore, excessive cardiac remodeling was related to postoperative MR ≥ grade II, what could suggest a potential benefit of early surgical treatment.

Marfan Syndrome: Clinical Presentation with Congenital Glaucoma? / Síndrome de Marfan: ¿presentación clínica con glaucoma congénito?

ABSTRACT Congenital glaucoma (CG), diagnosed in the first year of life, can fall into three main groups: primary CG, glaucoma associated with congenital anomalies, and secondary glaucoma of infants. The associated congenital anomaly of CG includes the autosomal dominant: Marfan Syndrome (MS), the phenotypic features of which would rarely be evident in the first year of life. Multiple other associated autosomal dominant, autosomal recessive, X-linked and chromosomal conditions that can present with CG need to be excluded. Hence, this is a retrospective diagnosis and is the first known documented case report in an Afro-Caribbean with MS presenting with CG at six weeks of age. The Marfanoid features became apparent in late childhood and adolescence.

RESUMEN El glaucoma congénito (GC), diagnosticado en el primer año de vida, puede clasificarse en tres grupos principales: GC primario, glaucoma asociado con anomalías congénitas, y glaucoma secundario de lactantes. La anomalía congénita asociada con el GC incluye el trastorno autosómico dominante conocido como síndrome de Marfan (SM), cuyas características fenotípicas serían raramente evidentes en el primer año de vida. Otras múltiples condiciones asociadas - autosómicas dominantes, autosómicas recesivas, ligadas al cromosoma X, y cromosómicas - que pueden presentarse con el GC, necesitan ser excluidas. Por lo tanto, éste es un diagnóstico retrospectivo, a la par que el primer reporte de caso documentado de que se tenga noticia en relación un bebé afrocaribeño con SM, que presentaba GC a las seis semanas de la edad. Las características marfanoides se hicieron evidentes en la última etapa de la niñez y en la adolescencia.

Long-term results of mitral valve repair

Abstract Introduction: Current guidelines state that patients with severe mitral regurgitation should be treated in reference centers with a high reparability rate, low mortality rate, and durable results. Objective: To analyze our global experience with the treatment of organic mitral regurgitation from various etiologies operated in a single center. Methods: We evaluated all surgically treated patients with organic mitral regurgitation from 2004-2017. Patients were evaluated clinically and by echocardiography every year. We determined early and late survival rates, valve related events and freedom from recurrent mitral regurgitation and tricuspid regurgitation. Valve failure was defined as any mitral regurgitation ≥ moderate degree or the need for reoperation for any reason. Results: Out of 133 patients with organic mitral regurgitation, 125 (93.9%) were submitted to valve repair. Mean age was 57±15 years and 52 patients were males. The most common etiologies were degenerative disease (73 patients) and rheumatic disease (34 patients). Early mortality was 2.4% and late survival was 84.3% at 10 years, which are similar to the age- and gender-matched general population. Only two patients developed severe mitral regurgitation, and both were reoperated (95.6% at 10 years). Freedom from mitral valve failure was 84.5% at 10 years, with no difference between degenerative and rheumatic valves. Overall, late ≥ moderate tricuspid regurgitation was present in 34% of the patients, being more common in the rheumatic ones. The use of tricuspid annuloplasty abolished this complication. Conclusion: We have demonstrated that mitral regurgitation due to organic mitral valve disease from various etiologies can be surgically treated with a high repair rate, low early mortality and long-term survival that are comparable to the matched general population. Concomitant treatment of atrial fibrillation and tricuspid valve may be important adjuncts to optimize long-term results.

Cardiovascular abnormalities in patients with oral cleft: a clinical-electrocardiographic-echocardiographic study

OBJECTIVES: The present study aims to describe the clinical, electrocardiographic, and echocardiographic cardiological findings in a group of patients with oral clefts. METHODS: This is a prospective cross-sectional study on 70 children (age range from 13 days to 19 years) with oral clefts who attended the multidisciplinary program of a university hospital from March 2013 to September 2014. The patients were evaluated by a pediatric cardiologist and underwent detailed anamnesis, physical examination, electrocardiogram, and echocardiogram. RESULTS: Sixty percent of the patients were male; 55.7% presented with cleft lip and palate, and 40.0% presented with health complaints. Comorbidities were found in 44.3%. Relevant pregnancy, neonatal, family and personal antecedents were present in 55.7%, 27.1%, 67.2%, and 24.3% of the patients, respectively. Regarding the antecedents, 15.2% of the patients presented with a cardiac murmur, 49.0% with a familial risk of developing plurimetabolic syndrome, and 6% with family antecedents of rheumatic fever. Electrocardiographic evaluation showed one case of atrioventricular block. Echocardiograms were abnormal in 35.7% of the exams, including 5 cases of mitral valve prolapse — one of which was diagnosed with rheumatic heart disease. CONCLUSION: The finding of a family risk of developing plurimetabolic syndrome and a diagnosis of rheumatic heart disease indicates that patients with oral clefts may be more prone to developing acquired heart disease. Thus, our findings highlight the importance of anamnesis and methodological triangulation (clinical-electrocardiographic-echocardiographic) in the investigation of patients with oral clefts and emphasize that cardiological follow-up to evaluate acquired and/or rhythm heart diseases is necessary. This strategy permits comorbidity prevention and individualized planned treatment.

Mitral valve prolapse in pregnancy

Abstract Mitral valve prolapse is a benign condition. Mitral regurgitation is only complicated in patients with severe mitral valve prolapse. Women with mitral valve prolapse in the absence of other cardiovascular disorders tolerate pregnancy well and do not develop remarkable cardiac complications. Nevertheless, serious complications of mitral valve prolapse, including arrhythmia, infective endocarditis and cerebral ischemic events, can be present in pregnancy. Debates remain with regard to the use of prophylactic antibiotics and β-blockers in the pregnant women with mitral valve prolapse. The prognosis of the pregnant patients might be closely related to the pathological and (or) functional changes of the mitral valve. Non-myxomatous mitral valve prolapse poses no or little obstetric risks in terms of pregnancy, labor and neonatal complications; whereas myxomatous mitral valve prolapse is a major etiology of valvular heart disease in women of childbearing age. In the pregnant patients with mitral valve prolapse progressing into major complications, surgical interventions are considered. Medicinal treatment of such patients with β-blockers should be a concern for the fetal safety.