The value of cardiac MRI in the risk stratification in patients with hypertrophic cardiomyopathy / 中华心血管病杂志

Objective: To explore the value of cardiac magnetic resonance imaging (CMR) in the risk stratification of hypertrophic cardiomyopathy (HCM). Methods: HCM patients who underwent CMR examination in Fuwai Hospital between March 2012 and May 2013 were retrospectively enrolled. Baseline clinical and CMR data were collected and patient follow-up was performed using telephone contact and medical record. The primary composite endpoint was sudden cardiac death (SCD) or and equivalent event. The secondary composite endpoint was all-cause death and heart transplant. Patients were divided into SCD and non-SCD groups. Cox regression was used to explore risk factors of adverse events. Receiver operating characteristic (ROC) curve analysis was used to assess the performance and the optimal cut-off of late gadolinium enhancement percentage (LGE%) for the prediction of endpoints. Kaplan-Meier and log-rank tests were used to compare survival differences between groups. Results: A total of 442 patients were enrolled. Mean age was (48.5±12.4) years and 143(32.4%) were female. At (7.6±2.5) years of follow-up, 30 (6.8%) patients met the primary endpoint including 23 SCD and 7 SCD equivalent events, and 36 (8.1%) patients met the secondary endpoint including 33 all-cause death and 3 heart transplant. In multivariate Cox regression, syncope(HR=4.531, 95%CI 2.033-10.099, P<0.001), LGE% (HR=1.075, 95%CI 1.032-1.120, P=0.001) and left ventricular ejection fraction (LVEF) (HR=0.956, 95%CI 0.923-0.991, P=0.013) were independent risk factors for primary endpoint; Age (HR=1.032, 95%CI 1.001-1.064, P=0.046), atrial fibrillation (HR=2.977, 95%CI 1.446-6.131, P=0.003),LGE% (HR=1.075, 95%CI 1.035-1.116, P<0.001) and LVEF (HR=0.968, 95%CI 0.937-1.000, P=0.047) were independent risk factors for secondary endpoint. ROC curve showed the optimal LGE% cut-offs were 5.1% and 5.8% for the prediction of primary and secondary endpoint, respectively. Patients were further divided into LGE%=0, 0<LGE%<5%, 5%≤LGE%<15% and LGE%≥15% groups. There were significant survival differences between these 4 groups whether for primary endpoint or secondary endpoint (all P<0.001) and the accumulated incidence of primary endpoint was 1.2% (2/161), 2.2% (2/89), 10.5% (16/152) and 25.0% (10/40), respectively. Conclusion: LGE is an independent risk factor for SCD events as well as all-cause death and heart transplant. LGE is of important value in the risk stratification in patients with HCM.

Cardiac magnetic resonance-feature tracking technique can assess cardiac function and prognosis in patients with myocardial amyloidosis / 南方医科大学学报

OBJECTIVE@#To quantitatively assess cardiac functions in patients with cardiac amyloidosis (CA) and hypertrophic cardiomyopathy (HCM) using cardiac magnetic resonance-feature tracking (CMR-FT) technique and evaluate the prognostic value of CMR-FT in patients with CA.@*METHODS@#We retrospectively collected the data from 31 CA patients with systemic amyloidosis confirmed by Congo red staining and serum immunohistochemistry after extracardiac tissue biopsy undergoing CMR at our hospital from March, 2013 to June, 2021.Thirty-one age and gender matched patients with asymmetric left ventricular wall hypertrophy and 31 healthy individuals without organic or functional heart disease served as the controls.Radial, circumferential and longitudinal strains and strain rates of the left ventricle at the global level and in each myocardial segment (basal, middle and apical) were obtained with CMR-FT technique and compared among the 3 groups.The predictive value of myocardial strains and strain rates for all-cause mortality in CA patients was analyzed using a stepwise COX regression model.@*RESULTS@#The left ventricular volume, myocardial mass, ejection fraction and cardiac output differed significantly among the groups (P < 0.05).Except for apical longitudinal strain, the global and segmental strains were all significantly lower in CA group than in HCM group (P < 0.05).The global and segmental strains were all significantly lower in CA group than in the healthy individuals (P < 0.05).The basal strain rates in the 3 directions were significantly lower in CA group than in the healthy individuals (P < 0.05), but the difference in apical strain rates was not statistically significant between the two groups.Multivariate stepwise COX analysis showed that troponin T (HR=1.05, 95%CI: 1.01-1.10, P=0.017) and middle peak diastolic circumferential strain rate (HR=6.87, 95%CI: 1.52-31.06, P=0.012) were strong predictors of death in CA patients.@*CONCLUSION@#Strain and strain rate parameters derived from CMR-FT based on cine sequences are new noninvasive imaging markers for assessing cardiac impairment in CA and cardiac function changes in HCM, and provide independent predictive information for all-cause mortality in CA patients.

Mecânica Atrial na Cardiomiopatia Hipertrófica: Discriminando Hipertrofia de Fibrose Ventricular / Atrial Mechanics in Hypertrophic Cardiomyopathy: Discriminating between Ventricular Hypertrophy and Fibrosis

Resumo Fundamento A cardiomiopatia hipertrófica (CMH) e a hipertrofia ventricular esquerda (HVE) secundária à hipertensão arterial sistêmica (HAS) podem estar associadas a anormalidades funcionais do átrio esquerdo (AE). Objetivos Caracterizar a mecânica do AE na CMH e na HAS e avaliar qualquer correlação com a extensão da fibrose ventricular esquerda medida por ressonância magnética cardíaca (RMC) em pacientes com CMH. Métodos A função longitudinal do AE derivada do ecocardiograma bidimensional com speckle tracking foi adquirida a partir de cortes apicais de 60 pacientes com CMH e 34 indivíduos controles, pareados por idade. Pacientes com CMH também foram submetidos à RMC, com medida da extensão do realce tardio por gadolínio. A associação com parâmetros de strain do AE foi analisada. Valores p < 0,05 foram definidos como estatisticamente significativos. Resultados A média da fração de ejeção do ventrículo esquerdo não foi diferente entre os grupos. A razão E/e' estava comprometida no grupo CMH e preservada no grupo controle. A mecânica do AE estava significativamente reduzida na CMH em comparação aos pacientes com HAS. O strain rate do AE nas fases de reservatório (SRrAE) e na fase contrátil (SRctAE) foram os melhores parâmetros de discriminação de CMH com uma área sob a curva (AUC) de 0,8, seguido do strain do AE na fase de reservatório (SrAE) (AUC 0,76). O SRrAE e o SRctAE apresentaram elevada especificidade (89% e 91%, respectivamente), e o SrAE apresentou sensibilidade de 80%. Um decréscimo de 2,79% no strain rate do AE na fase de condução (SRcdAE) foi preditor de um aumento de 1 cm na extensão do RT pelo gadolínio (r2=0,42, β 2,79, p=0,027). Conclusões O SRrAE e o SRctAE foram os melhores fatores de discriminação de HVE secundária à CMH. O SRcdAE foi preditor do grau de fibrose ventricular esquerda avaliada por RMC. Esses achados sugerem que a mecânica do AE pode ser um potencial preditor de gravidade de doença na CMH.

Abstract Background Hypertrophic cardiomyopathy (HCM) and left ventricular hypertrophy (LVH) secondary to systemic hypertension (HTN) may be associated with left atrial (LA) functional abnormalities. Objectives We aimed to characterize LA mechanics in HCM and HTN and determine any correlation with the extent of left ventricular (LV) fibrosis measured by cardiac magnetic resonance (CMR) in HCM patients. Methods Two-dimensional speckle tracking-derived longitudinal LA function was acquired from apical views in 60 HCM patients, 60 HTN patients, and 34 age-matched controls. HCM patients also underwent CMR, with measurement of late gadolinium enhancement (LGE) extension. Association with LA strain parameters was analyzed. Statistical significance was set at p<0.05. Results Mean LV ejection fraction was not different between the groups. The E/e' ratio was impaired in the HCM group and preserved in the control group. LA mechanics was significantly reduced in HCM, compared to the HTN group. LA strain rate in reservoir (LASRr) and in contractile (LASRct) phases were the best discriminators of HCM, with an area under the curve (AUC) of 0.8, followed by LA strain in reservoir phase (LASr) (AUC 0.76). LASRr and LASR-ct had high specificity (89% and 91%, respectively) and LASr had sensitivity of 80%. A decrease in 2.79% of LA strain rate in conduit phase (LASRcd) predicted an increase of 1cm in LGE extension (r2=0.42, β 2.79, p=0.027). Conclusions LASRr and LASRct were the best discriminators for LVH secondary to HCM. LASRcd predicted the degree of LV fibrosis assessed by CMR. These findings suggest that LA mechanics is a potential predictor of disease severity in HCM.

Ectasia coronaria y miocardiopatía hipertrófica: una entidad infrecuente / Coronary artery ectasia and hypertrophic cardiomyopathy: case report

Resumen Se presenta el caso de un paciente de 54 años que consulta por angina de esfuerzo de 2 años de evolución en quien se identifica una dilatación ectásica del árbol coronario con lesiones ateroscleróticas críticas y miocardiopatía hipertrófica septal obstructiva. Una revisión bibliográfica revela que es una asociación infrecuente de la cual solo existen reportes de casos aislados.

Abstract We present the case of a 54-year-old patient who presented with a history of 2 years with angina. Invasive studies revealed critical coronary artery stenosis coexisting with obstructive hypertrophic miopathy. This is a rare association with only isolated case reports.

Importância dos métodos de imagem no diagnóstico diferencial de cardiopatia hipertensiva e cardiomiopatia hipertrófica: relato de caso / The importance of imaging methods in the differential diagnosis of hypertensive cardiopathy and hypertrophic cardiomyopathy: a case report

Caso clínico de homem de 31 anos, branco, casado, cozinheiro, natural do Nepal, procedente de São Paulo há 4 anos, em acompanhamento ambulatorial após encaminhamento do pronto-socorro (PS) por angina atípica e pressão alta sic. Pela análise do prontuário verificou-se que o paciente permaneceu no PS por 48 horas e ao exame físico a ausculta cardíaca era normal e a pressão arterial (PA) 140X85 mm Hg. O eletrocardiograma (ECG) mostrava critérios eletrocardiográficos para hipertrofia ventricular esquerda (HVE) e alterações da repolarização ventricular e os marcadores de necrose miocárdica apresentavam aumentos discretos. Na consulta ambulatorial o paciente não referia queixas, a PA estava normal e foram realizados: monitorização ambulatorial da pressão arterial (MAPA) de 24 horas, ecocardiograma (ECO) e angiotomografia de coronárias. A MAPA mostrou níveis pressóricos normais (vigília e sono respectivamente 112x65 e 106x51 mmHg), o ECO não detectou HVE e a angiotomografia de coronárias não identificou obstruções coronarianas e o escore de cálcio era zero. A ressonância magnética de coração (RMC) mostrou aumento da espessura miocárdica de ventrículo direito (VD), hipertrofia miocárdica assimétrica de predomínio septal acometendo paredes anterior e lateral do ventrículo esquerdo (VE) com maior espessura no segmento inferoseptal medial (25 mm). Detectou-se presença de realce tardio mesocárdico nas inserções superior e inferior do VD na região do septo interventricular, além de realce tardio heterogêneo em segmentos antero-septal e ínfero-septal mediobasal. A massa de fibrose miocárdica foi estimada em 6,4g (2,2% da massa total do VE). Todos esses achados são típicos de cardiomiopatia hipertrófica (CMH) com predomínio septal e envolvimento do VD. Este caso chamou a atenção por se tratar de paciente com apresentação clínica de angina, hipertensão e critérios de HVE pelo ECG não confirmada pelo ECO em que a RMC fez o diagnóstico de CMH. Portanto, a avaliação multimodal com diversas técnicas diagnósticas muitas vezes se faz necessária para a confirmação diagnóstica da CMH.

Clinical case of 31-year-old male patient, white, married, born in Nepal living in São Paulo for 4 years, refered to the emergency room (ER) for atypical angina and high blood pressure sic. He remained under observation for 48 hours, and during this period the physical examination showed normal cardiac auscultation and blood pressure (BP) 140X85 mm Hg. The electrocardiogram (ECG) had criteria for left ventricular hypertrophy (LVH) and ventricular repolarization abnormality. He also had a slight increase of myocardial necrosis markers. As his symptoms improved, he was sent to the cardiac ambulatory. When the patient returned to the ambulatory he had no cardiac complaints, his BP was normal. It was then requested 24-hour ambulatory blood pressure monitoring (ABPM), echocardiography (ECHO), and coronary angiotomography. The ABPM presented normal blood pressure levels (awake and asleep respectively 112x65 and 106x51 mmHg), the ECHO did not show LVH, coronary angiotomography did not detect coronary obstructions and the calcium score was zero. A cardiac magnetic resonance (CMR) of the heart was performed which showed increased myocardial thickness of the right ventricle (RV), asymmetric myocardial hypertrophy of septal interventricular that also affecting anterior and lateral walls of the left ventricle (LV) with greater thickness in the medial inferoseptal segment (25 mm). It also presented signal of late mesocardial enhancement in the superior and inferior RV insertions of the interventricular septum and heterogeneous late enhancement in anteroseptal and inferoseptal mediobasal segments. The myocardial fibrosis mass was estimated in 6.4g (2.2% of the total LV mass). All these findings are typical of septal hypertrophic cardiomyopathy (HCM) with involvement of the RV. This case drew attention because it was a patient with a clinical presentation of angina, hypertension, and criteria for LVH by the ECG not confirmed by ECHO, but the CMR characterized as HCM. Therefore, multimodal evaluation diagnostic techniques in patient with electrocardiographic criteria of LVH without correlation with ECHO imagens were essential to the diagnosis of HCM.

Aneurisma apical en paciente con miocardiopatía hipertrófica / Apical aneurysm in a patient with hypertrophic cardiomyopathy

We report a 51-year-old asymptomatic male, with type II diabetes, referred to our outpatient clinic due to ST and T alterations on the precordial leads on the electrocardiogram. The echocardiogram showed apical akinesia and left ventricular hypertrophy. There were no angiographic lesions in the coronary angiography. In the left ventriculography, a hyperdynamic left ventricle with suspected left ventricular hypertrophy and an apical aneurysm were found. The cardiac magnetic resonance confirmed those findings, without late gadolinium enhancement. According to the European Cardiology Society Risk Score, the patient had a low sudden death risk. However, this score does not consider the presence of an aneurysm as risk factor for sudden death, but it is considered in the 2017 ACC/AHA Heart Rhythm Society Guidelines, as a major risk factor. Therefore a defibrillator was implanted, and he was discharged on permanent oral anticoagulation.

Devemos Realizar Ressonância Magnética Cardíaca em Pacientes com Insuficiência Cardíaca e Disfunção Ventricular sem Diagnóstico Etiológico Definido? / Diagnostic yield of magnetic resonance imaging in heart failure with left ventricular dysfunction?

Fundamento: A insuficiência cardíaca com fração de ejeção reduzida é responsável por metade dos casos de insuficiência cardíaca no mundo e associada à morbidade e à mortalidade substanciais. Contudo, mesmo com história clínica e exame físico associados a exames complementares convencionais, muitos pacientes permanecem sem diagnóstico etiológico. A ressonância magnética cardíaca oferece a possibilidade de esclarecer esses casos. Objetivo: Verificar em que medida a ressonância magnética cardíaca contribui com o diagnóstico etiológico da insuficiência cardíaca com fração de ejeção do ventrículo esquerdo <50% em um serviço especializado. Métodos: Foram incluídos indivíduos encaminhados para ressonância magnética cardíaca com insuficiência cardíaca e fração de ejeção do ventrículo esquerdo <50% ao ecocardiograma transtorácico, sem etiologia definida, de janeiro de 2017 a junho de 2018, em hospital terciário. Resultados: A amostra foi constituída de 87 pacientes, com idade média de 45±16 anos, sendo 49% do sexo masculino e fração de ejeção do ventrículo esquerdo 32%±13. Tiveram diagnóstico etiológico por meio da ressonância magnética cardíaca 55,3% dos pacientes: 33,4% miocardite, 11,5% cardiopatia não compactada, 6,8% cardiopatia chagásica e 1,2% para cardiopatia hipertensiva, amiloidose e displasia arritmogênica do ventrículo direito, cada. O realce tardio miocárdico foi positivo em 61%, e predominou o padrão de realce tardio não isquêmico (50,5%). Houve remodelamento reverso com normalização da função ventricular em 13% dos pacientes. Conclusão: O rendimento da ressonância magnética cardíaca em pacientes sem diagnóstico etiológico da insuficiência cardíaca com disfunção ventricular é significativo do ponto de vista clínico, pois contribuiu, em mais de 50% das vezes, com a etiologia e o prognóstico dos pacientes. Esse impacto positivo ocorreu em serviço terciário e de ensino em cardiologia, sendo possível que, em outras circunstâncias, o papel da ressonância magnética cardíaca seja inclusive maior do que o aqui apresentado.(AU)

Background: Heart failure with reduced ejection fraction is responsible for half of heart failure cases worldwide and implicates in substantial morbidity and mortality. However, even with clinical history and physical examination associated with conventional complementary exams, many patients remain without etiological diagnosis. Cardiac magnetic resonance has offered the possibility to clarify a variable proportion of these cases. Objective: To verify how much cardiac magnetic resonance contributes to etiologic diagnosis of heart failure with left ventricular ejection fraction <50% in a specialized service. Methods: We included individuals referred to cardiac magnetic resonance with heart failure and left ventricular ejection fraction <50% by transthoracic echocardiogram, without defined etiology, from January, 2017 to June, 2018 in a tertiary hospital. Results: The sample consisted of 87 patients, with average age of 45±16 years, 49% male and left ventricular ejection fraction 32%±13. Of the patients, 55,3% had etiological diagnosis through cardiac magnetic resonance: 33,4% myocarditis, 11.5% non-compaction cardiomyopathy, 6.8% Chagas disease, and for hypertensive heart disease, amyloidosis and arrhythmogenic right ventricle dysplasia, 1,2% each. Late gadolinium enhancement was positive in 61% and non-ischemic pattern predominated (50,5%). Reverse remodeling occurred with normalization of ventricular function in 13% of patients. Conclusion: The performance of cardiac magnetic resonance in patients without etiologic diagnosis of HF with left ventricle dysfunction is clinically significant, since it contributed more than 50% of the time to the etiology and prognosis of patients. This positive impact occurred in a tertiary cardiology teaching service, so it is possible that in other circumstances the role of the cardiac magnetic resonance may be even greater than that here presented.(AU)

Análise Comparativa do Padrão de Fluxo de Artérias Coronárias das Hipertrofias Miocárdicas Secundárias e por Mutação Sarcomérica / Comparative Analysis of the Coronary Arteries Flow Pattern in Secondary Myocardial Hypertrophies and by Sarcomeric Mutation

Fundamento: O fluxo coronariano com predomínio diastólico aumenta duas a cinco vezes na hiperemia, mediada por vasodilatação (reserva de fluxo coronariano), podendo, na hipertrofia, ocorrer isquemia relativa. Na hipertrofia secundária, o fluxo em repouso torna-se isquêmico pelo aumento da demanda. Na cardiomiopatia hipertrófica com fibrose perivascular, há funcionalização de vasos colaterais, para aumentar a irrigação dos segmentos hipertrofiados. Objetivo: Determinar o padrão do fluxo coronariano em pacientes com hipertrofia secundária e cardiomiopatia hipertrófica, avaliando a reserva de fluxo coronariano. Métodos: Avaliamos o fluxo coronariano em 34 pacientes com hipertrofia secundária, em 24 com cardiomiopatia hipertrófica e em 16 controles. A artéria descendente anterior foi detectada com Doppler transtorácico com calibração adequada do equipamento. Nos grupos controle e com hipertrofia secundária, foi calculada a reserva de fluxo coronariano com dipiridamol (0,84 mg/kg) endovenoso. O mesmo procedimento foi realizado em seis pacientes do grupo com cardiomiopatia hipertrófica, nos quais também foi avaliado o fluxo das colaterais da região hipertrófica. Os dados foram comparados por variância com significância de 5%. Resultados: Na hipertrofia secundária, houve aumento do índice de massa e, na cardiomiopatia hipertrófica, predominou o aumento da espessura relativa. A fração de ejeção e a disfunção diastólica foram maiores no grupo com cardiomiopatia hipertrófica. A reserva de fluxo coronariano foi menor no grupo com cardiomiopatia hipertrófica, sendo detectado, também, fluxo de colaterais com redução da reserva de fluxo coronariano. Conclusão: A análise da circulação coronariana com Doppler transtorácico é possível em indivíduos normais e hipertróficos. Pacientes com hipertrofia secundária e cardiomiopatia hipertrófica apresentam diminuição da reserva de fluxo coronariano, e aqueles com cardiomiopatia hipertrófica mostram fluxo de vasos colaterais dilatados observados na região hipertrófica, com diminuição da reserva de fluxo coronariano.(AU)

Background: Coronary flow with a diastolic predominance increases two to five times in hyperemia, mediated by vasodilation (coronary flow reserve, CFR) and, in hypertrophy, relative ischemia may occur. In secondary hypertrophy (LVH), the flow, normal at rest, becomes ischemic due to increased demand. In hypertrophic cardiomyopathy (HCM) with perivascular fibrosis, collateral vessels appear to increase the irrigation of hypertrophied segments. Objective: To determine the coronary flow pattern in patients with secondary hypertrophy and hypertrophic cardiomyopathy, evaluating the coronary flow reserve. Methods: Coronary flow was evaluated in 34 patients with secondary hypertrophy, 24 with hypertrophic cardiomyopathy and in 16 controls. The anterior descending artery was detected with transthoracic Doppler with adequate equipment calibration. In the hypertrophic cardiomyopathy group, the flow of collaterals from the hypertrophic region was evaluated. In the control and secondary hypertrophy groups and in six patients in the hypertrophic cardiomyopathy group, the intravenous dipyridamole (0.84 mg) coronary flow reserve was calculated. The data were compared by variance with a significance of 5%Results: In secondary hypertrophy there was an increase in mass index and blood pressure, and in hypertrophic cardiomyopathy an increase in relative thickness predominated. Ejection fraction and diastolic dysfunction were higher in the hypertrophic cardiomyopathy group. The coronary flow reserve was lower in the hypertrophic cardiomyopathy group, and flow of collaterals was also detected, with a reduction in the coronary flow reserve. Conclusion: the analysis of coronary circulation with transthoracic Doppler is possible in normal and hypertrophic individuals. Patients with secondary hypertrophy and hypertrophic cardiomyopathy have a decrease in the coronary flow reserve, and patients with hypertrophic cardiomyopathy show a hyper flow of dilated collateral vessels observed in the hypertrophic region, with a decrease in the coronary flow reserve.(AU)

Cardiomiopatia Hipertrófica - Revisão / Hypertrophic Cardiomyopathy: A Review

Resumo A cardiomiopatia hipertrófica (CMH) é a doença cardíaca de origem genética mais comum, cuja principal característica consiste na hipertrofia ventricular esquerda que acontece na ausência de outras patologias que desencadeiam tal alteração. A CMH pode se apresentar desde formas assintomáticas até manifestações de morte cardíaca súbita e de insuficiência cardíaca refratária. Métodos de imagem contemporâneos de alta resolução e escores clínicos mais acurados vêm sendo utilizados e desenvolvidos no sentido de propiciar uma avaliação prognóstica e funcional mais adequada, bem como possibilitar a estratificação dos casos de maior gravidade. Nesta revisão, serão abordados esses aspectos, entre outros tópicos clássicos inerentes ao estudo dessa doença.

Abstract Hypertrophic cardiomyopathy (HCM) is the most common heart disease with a genetic origin, and its main characteristic is left ventricular hypertrophy that occurs in the absence of other conditions that trigger this change. HCM may present from asymptomatic forms to manifestations of sudden cardiac death and severe heart failure. Contemporary high-resolution imaging methods and more accurate clinical scores have been used and developed to provide a prognostic assessment and adequate functional assessments, as well as to allow for the stratification of clinical severity. These aspects will be addressed in this review, along with other classic topics inherent to the study of this disease.

Cardiac Alterations in Patients with Familial Lipodystrophy / Alterações Cardiovasculares em Pacientes Portadores de Lipodistrofia Familiar

Abstract Familial lipodystrophy is a rare genetic condition in which individuals have, besides metabolic changes and body fat deposits, a type of cardiomyopathy that has not been well studied. Many of the patients develop cardiovascular changes, the most commonly reported in the literature being the expression of a type of hypertrophic cardiomyopathy. This article, presented as a bibliographic review, reviews the clinical and cardiovascular imaging aspects in this scenario of cardiomyopathy in a rare metabolic disease, based on the latest scientific evidence published in the area. Despite the frequent association of congenital lipodystrophy and ventricular hypertrophy described in the literature, the pathophysiological mechanisms of this cardiomyopathy have not yet been definitively elucidated, and new information on cardiac morphological aspects is emerging in the aegis of recent and advanced imaging methods, such as cardiac magnetic resonance.

Resumo A lipodistrofia familiar é uma condição genética rara na qual indivíduos apresentam, além das alterações metabólicas e de depósitos de gordura físicos, um tipo de cardiomiopatia pouco estudada. Muitos dos pacientes desenvolvem alterações cardiovasculares, sendo a mais comumente reportada em literatura, a expressão de um tipo de cardiomiopatia hipertrófica. Este artigo, apresentado como uma revisão bibliográfica, revisa os aspectos clínicos e de imagem cardiovascular neste cenário de cardiomiopatia em doença metabólica rara, com base nas últimas evidências científicas publicadas na área. Apesar da frequente associação de lipodistrofia congênita e hipertrofia ventricular descrita em literatura, os mecanismos fisiopatológicos desta cardiomiopatia ainda não estão definitivamente elucidados, e novas informações do aspecto morfológico cardíaco surgem à égide de recentes e avançados métodos de imagem como a ressonância cardíaca magnética.

Strain Analysis of Left Ventricular Function in the Association of Hypertrophic Cardiomyopathy and Systemic Arterial Hypertension / Avaliação da Função Ventricular Esquerda na Associação de Cardiomiopatia Hipertrófica e Hipertensão Arterial Sistêmica pela Técnica de Strain

Abstract Background: Hypertrophic cardiomyopathy (HCM) is the most common heart disease of genetic origin in the world population, with a prevalence of at least 1/500. The association with systemic arterial hypertension (SAH) is not uncommon, as it affects approximately 25% of the world population. Most studies aim at the differential diagnosis between these diseases, but little is known about the magnitude of this association. Objective: To compare left ventricular global longitudinal strain (GLS) in HCM patients with and without associated SAH. Methods: Retrospective cross-sectional study that included 45 patients with HCM and preserved ejection fraction, with diagnosis confirmed by magnetic resonance imaging, including 14 hypertensive patients. Transthoracic echocardiography was performed, with emphasis on left ventricular myocardial strain analysis using GLS. In this study, p < 0.05 was considered statistically significant. Results: Left ventricular strain was significantly lower in hypertensive individuals compared to normotensive individuals (-10.29 ± 2.46 vs. -12.35% ± 3.55%, p = 0.0303), indicating greater impairment of ventricular function in that group. Mean age was also significantly higher in hypertensive patients (56.1 ± 13.9 vs. 40.2 ± 12.7 years, p = 0.0001). Diastolic dysfunction was better characterized in hypertensive patients (p = 0.0242). Conclusion: Myocardial strain was significantly lower in the group of patients with HCM and SAH, suggesting greater impairment of ventricular function. This finding may be related to a worse prognosis with early evolution to heart failure. Prospective studies are required to confirm this hypothesis.

Resumo Fundamentos: A cardiomiopatia hipertrófica (CMH) é a doença cardíaca de origem genética mais frequente na população mundial, com prevalência de, pelo menos, 1/500. A associação com hipertensão arterial sistêmica (HAS) não é incomum, uma vez que esta acomete aproximadamente 25% da população mundial. A maioria dos estudos objetiva o diagnóstico diferencial entre essas doenças, mas pouco se sabe sobre a magnitude dessa associação. Objetivo: Comparar o strain longitudinal global (SLG) do ventrículo esquerdo em pacientes portadores de CMH com e sem HAS associada. Métodos: Estudo transversal retrospectivo que incluiu 45 pacientes portadores de CMH e fração de ejeção preservada, com diagnóstico confirmado por ressonância magnética, sendo 14 hipertensos. Realizada avaliação ecocardiográfica transtorácica com ênfase na análise da deformação miocárdica do ventrículo esquerdo por meio do SLG. Valores de p < 0,05 foram considerados estatisticamente significativos. Resultados: A deformação do ventrículo esquerdo foi significativamente menor nos hipertensos quando comparada aos normotensos (-10,29 ± 2,46 vs. -12,35% ± 3,55%, p = 0,0303), indicando maior comprometimento da função ventricular naquele grupo. A média de idade também foi significativamente maior nos hipertensos (56,1 ± 13,9 vs. 40,2 ± 12,7 anos, p = 0,0001). A disfunção diastólica foi melhor caracterizada nos pacientes hipertensos (p = 0,0242). Conclusão: A deformação miocárdica foi significativamente menor no grupo de pacientes com CMH e HAS, sugerindo maior comprometimento da função ventricular. Esse achado pode estar relacionado a um pior prognóstico com evolução precoce para insuficiência cardíaca. Estudos prospectivos são necessários para confirmar essa hipótese.

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease? / Mutação do Gene GLA na Cardiomiopatia Hipertrófica com Descrição de Nova Variante: É Doença de Fabry?

Abstract Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), causing multiple organ dysfunctions. Objective: To perform GLA gene screening in a group of patients with echocardiographic diagnosis of hypertrophic cardiomyopathy (HCM). Methods: a cross-sectional study was conducted with HCM patients from a university hospital. Patients with coronary artery disease and valvulopathies were excluded. Mutation analysis of the GLA gene was performed. In male subjects, the analysis was performed after evidence of low α-Gal A activity. Results: 60 patients with echocardiographic diagnosis of HCM were included. Age ranged from 12 to 85 years and 60% were women. Mean myocardial fibrosis percentage on MRI was 10.7 ± 13.1% and mean ventricular thickness was18.7 ± 6.7 mm. Four patients had the following GLA gene mutations: c.967C>A (p.Pro323Thr), not yet described in the literature; c.937G>T (p.Asp313Tyr); and c.352C>T (p.Arg118Cys). All patients had normal levels of lyso-Gb3 and non-ischemic myocardial fibrosis on magnetic resonance imaging; one patient had proteinuria and one patient had ventricular tachycardia. Conclusion: in this study, the frequency of mutation in the GLA gene in patients with HCM was 6.7%. A novel mutation in exon 6 of the GLA gene, c.967C>A (p.Pro323Thr), was identified. Patients with HCM may have GLA mutations and FD should be ruled out. Plasma (lyso-Gb3) levels do not seem to be sufficient to attain a diagnosis and organ biopsy should be considered.

Resumo Fundamento: A doença de Fabry (DF) é uma doença de armazenamento lisossômico ligada ao cromossomo X, devido a mutações no gene da alfa galactosidase A (GLA), levando a deficiência enzimática de alfa-galactosidase (α-Gal A) e acúmulo de globotriaosilceramida (Gb3) e globotriaosilsulfingosina (liso-Gb3), causando disfunção de múltiplos órgãos. Objetivo: realizar a triagem do gene GLA em um grupo de pacientes com diagnóstico ecocardiográfico de cardiomiopatia hipertrófica (CMH). Métodos: estudo transversal realizado com pacientes com CMH em um hospital universitário. Pacientes com doença arterial coronariana e valvopatias foram excluídos. Foi realizada análise de mutação do gene GLA. Em indivíduos do sexo masculino, a análise foi realizada após evidência de baixa atividade de α-Gal A. Resultados: Foram incluídos 60 pacientes com diagnostico ecocardiográfico de CMH. A idade variou de 12 a 85 anos e 60% eram mulheres. O percentual médio de fibrose miocárdica na RM foi 10,7 ± 13,1% e a espessura ventricular média foi 18,7 ± 6,7 mm. Quatro pacientes tinham as seguintes mutações do GLA: c.967C>A (p.Pro323Thr), ainda não descrita na literatura; c.937G>T (p.Asp313Tyr); e c.352C>T (p.Arg118Cys). Todos os pacientes apresentavam níveis normais de liso-Gb3 e fibrose miocárdica não isquêmica na ressonância magnética; um paciente apresentou proteinúria; um paciente apresentou taquicardia ventricular. Conclusão: Neste estudo, a frequência de mutação no gene GLA em pacientes com CMH foi 6,7%. Uma nova mutação no exon 6 do gene GLA, c.967C>A (p.Pro323Thr), foi identificada. Pacientes com CMH podem ter mutações do GLA e a DF deve ser excluída. Os níveis plasmáticos de (liso-Gb3) não parecem ser suficientes para fazer um diagnóstico e biópsia de órgãos deve ser considerada.