Hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. The disease is characterized by marked variability in morphological expression and natural history, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular outflow obstruction in most patients. The goal of pharmacological therapy in HCM is to alleviate the symptoms, and it includes pharmacotherapies and septal reduction therapies. In this review, we summarize the relevant clinical issues and treatment options of HCM.

Evaluation of Galectin-3 and myocardial fibrosis in patients with hypertrophic cardiomyopathy / Avaliação de Galectina-3 e fibrose miocárdica em pacientes com cardiomiopatia hipertrófica

Background: Galectin-3 is the designation given to the protein that binds to ß-galactosides, expressed by activated macrophages and described as a cardiac fibrosis mediator. In hypertrophic cardiomyopathy (HCM), myocardial fibrosis is an independent predictor of adverse outcome; however, the association between Galectin-3 and myocardial fibrosis has not been studied in this cardiopathy. Objective: To evaluate the association of Galectin-3 and the presence of myocardial fibrosis in a patient with hypertrophic cardiomyopathy. Methods: Galectin-3 was measured in automated equipment using the Elisa technique in 100 participants divided into two groups: 50 patients with hypertrophic cardiomyopathy and 50 healthy control subjects. All patients with hypertrophic cardiomyopathy underwent magnetic nuclear resonance with the late enhancement technique to investigate myocardial fibrosis. For the statistical analysis, p values < 0.05 were considered statistically significant. Results: Galectin-3 levels were low and did not show significant differences between patients with hypertrophic cardiomyopathy and the control group,10.3 ± 3.1 ng/dL and 11.3 ± 2.6 ng/dL (p = 0.12) respectively. Myocardial fibrosis was a common finding and was identified in 84% (42/50) of patients with HCM, but no differences were observed between Galectin-3 levels when comparing patients with and without fibrosis, 10.3 ± 2.4 ng/dL and 10.1 ± 2.1 ng/dL (p = 0.59). Conclusion: The results did not show an association between Galectin-3 and myocardial fibrosis in patients with hypertrophic cardiomyopathy, suggesting that non-inflammatory mechanisms of myocardial fibrosis formation and cardiac remodeling are involved in this cardiopathy

Incidência de aterosclerose obliterante periférica em pacientes com doença coronariana / Incidence of peripheral artery disease in coronary patients

Introdução: Pacientes com doença coronariana, cuja principal causa é a aterosclerose, podem também desenvolver Doença Arterial Obstrutiva Periférica (DAOP). Objetivo: Analisar a incidência de DAOP em pacientes com doença arterial coronariana, relacionando com o número de artérias obstruídas. Material e métodos: Participaram deste estudo 48 pacientes com doença coronariana submetidos a cineangiocoronariografia com angioplastia e implante de stent coronariano, no período de janeiro de 2008 a junho de 2009, em um hospital de atendimento exclusivo do Sistema Único de Saúde (SUS) da cidade de Presidente Prudente, SP, Brasil. Foram avaliados dados demográficos, presença de patologias concomitantes e fatores de risco cardiovasculares, e realizada a aferição do Índice Tornozelo-Braquial (ITB). Foi realizada análise descritiva dos resultados. Resultados: A idade média foi de 59,5 ± 8,2 anos, sendo 64,6% do sexo masculino. O diabetes mellitusesteve presente em 37,5% dos pacientes, a hipertensão arterial sistêmica em 89,6%, a dislipidemia em 64,6% e o tabagismo em 52,1%. Na cineangiocoronariografia, houve predomínio de lesão na artéria descendente anterior (n=37; 77,1%), seguida pela coronária direita (n=24; 50%), primeira diagonal (n=16; 33,3%) e circunflexa (n=12; 25%). Dos avaliados, 19 pacientes (40%) tiveram o ITB alterado em, no mínimo, um membro. Conclusão: Em pacientes com doença coronariana e fatores de risco cardiovasculares, a DAOP foi altamente incidente. Porém, este estudo não observou correlação do ITB com a quantidade de artérias obstruídas. Considerando que os fatores de risco observados são mutáveis e plausíveis de serem controlados ou erradicados, como o tabagismo, é necessário que a atenção básica seja estimulada à busca ativa destes pacientes na comunidade, intensificando as estratégias de controle da hipertensão arterial sistêmica, da dislipidemia, do diabetes mellitus e do tabagismo.

Introduction: Patients with coronary disease whose primary cause is atherosclerosis may also develop Peripheral Arterial Disease (PAD). Objective: To analyze the incidence of PAD in patients with coronary artery disease, related to the number of obstructed arteries. Materials and methods: The study included 48 patients with coronary artery disease undergoing coronary angiography with angioplasty and coronary stenting, from January 2008 to June 2009, in a hospital serving exclusively the Unified Health System (SUS) in Presidente Prudente, SP, Brazil. Demographics, presence of concomitant diseases and cardiovascular risk factors were assessed and performed, and the Ankle Brachial Index (ABI) was measured. Descriptive Analysis of results was performed. Results: Mean age was 59.5 ± 8.2 years, 64.6% were males. Diabetes mellitus was present in 37.5% of patients, systemic arterial hypertension in 89.6%, dyslipidemia in 64.6% and smoking in 52.1%. In coronary angiography, there was a prevalence in lesion in the anterior descending artery (n=37; 77.1%), followed by the right coronary artery (n=24; 50%), first diagonal (n=16; 33.3%) and circumflex (n=12; 25%). Of the patients evaluated, 19 (40%) presented an altered ABI in at least one member. Conclusion: In patients with coronary disease and cardiovascular risk factors, the PAD was highly incident. However, this study found no correlation between the ABI and the quantity of obstructed arteries. Considering that the risk factors observed are changeable and plausible to be controlled or eradicated, such as smoking, it is necessary that primary care is encouraged so that there is an active search of these patients in the community, intensifying strategies for control of systemic arterial hypertension, dyslipidemia, diabetes mellitus and smoking

Clinical predictors of a positive genetic test in hypertrophic cardiomyopathy in the Brazilian population.

BACKGROUND: Hypertrophic cardiomyopathy is a genetic autosomal dominant disease characterized by left ventricular hypertrophy. The molecular diagnosis is important but still expensive. This work aimed to find clinical predictors of a positive genetic test in a Brazilian tertiary centre cohort of index cases with HCM. METHODS: In the study were included patients with HCM clinical diagnosis. For genotype x phenotype comparison we have evaluated echocardiographic, electrocardiographic, and nuclear magnetic resonance measures. All patients answered a questionnaire about familial history of HCM and/or sudden death. ß-myosin heavy chain, myosin binding protein C, and troponin T genes were sequenced for genetic diagnosis. RESULTS: The variables related to a higher probability of a positive genetic test were familial history of HCM, higher mean heart frequency, presence of NSVT and lower age. Probabilities of having a positive molecular genetic test were calculated from the final multivariate logistic regression model and were used to identify those with a higher probability of a positive molecular diagnosis. CONCLUSIONS: We developed an easy and fast screening method that takes into account only clinical data that can help to select the patients with a high probability of positive genetic results from molecular sequencing of Brazilian HCM patients.

Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

BACKGROUND: Hypertrophic cardiomyopathy (HC) is the most prevalent genetic cardiac disease caused by a mutation in sarcomeres, Z-disks, or calcium-handling genes and is characterized by unexplained left ventricular hypertrophy. The aim of this study was to determine the genetic profile of Brazilian patients with HC and correlate the genotype with the phenotype. METHODS: We included 268 index patients from São Paulo city and 3 other cities in Brazil and extracted their DNA from whole blood. We amplified the coding sequencing of MYH7, MYBPC3, and TNNT2 genes and sequenced them with an automatic sequencer. RESULTS: We identified causal mutations in 131 patients (48.8%). Seventy-eight (59.5%) were in the MYH7 gene, 50 (38.2%) in the MYBPC3 gene, and 3 (2.3%) in the TNNT2 gene. We identified 69 mutations, 24 not previously described. Patients with an identified mutation were younger at diagnosis and at current age, had a higher mean heart rate and higher nonsustained ventricular tachycardia frequency compared with those without a mutation. Patients with MYH7 gene mutations had a larger left atrium and higher frequency of atrial fibrillation than did patients with MYBPC3 gene mutations. CONCLUSION: The presence of a mutation in one of the genes suggests a worse prognosis. Mutations in the MYH7 gene, rather than in the MYBPC3 gene, were also related to a worse prognosis. This is the first work characterizing HC molecular epidemiology in the Brazilian population for the 3 most important genes.

Caracterização do perfil da micro-alternância da onda T na cardiomiopatia hipertrófica / Characterization of the profile of microvolt T-wave alternans in hypertrophic cardiomyopathy

Introdução: A cardiomiopatia hipertrófica (CMH) é definida, como a hipertrofia miocárdica ocorrida na ausência de doença cardíaca ou sistêmica, sendo a mais prevalente das cardiopatias de transmissão genética e a principal causa de morte súbita em jovens e atletas. A única opção de tratamento para prevenção dessa complicação é a indicação do cardiodesfibrilador implantável (CDI). Alguns marcadores de risco foram identificados, como: pacientes que sobreviveram à parada cardíaca por fibrilação ventricular, episódio de taquicardia ventricular sustentada; história familiar precoce de MSC; síncope inexplicada; espessura septal >= 30 mm; taquicardia ventricular não sustentada (TVNS) no Holter; queda da pressão sistólica (PAS) > 20 mmHg ou aumento < 20 mmHg no esforço. Entretanto, a sensibilidade e especificidade desses critérios são limitadas, tornando necessário o conhecimento de novos métodos diagnósticos com capacidade de predizer MSC. A micro-alternância da onda T (MAOT) é utilizada como ferramenta diagnóstica na estratificação de pacientes com riscos de desenvolver arritmias ventriculares malignas e MSC auxiliando na indicação do CDI. Na CMH há poucos estudos realizados com objetivos e resultados diferentes e, atualmente, uma nova metodologia na realização desses exames foi desenvolvida, não sendo testada nesta população. Os objetivos do presente estudo foram: caracterizar os valores da MAOT pela metodologia Média Móvel Modificada (MMM) e avaliar a associação de seus resultados com os fatores de risco clínicos para MSC. Metodologia: Foram selecionados 132 pacientes com CMH que foram divididos em dois grupos: 1) Alto Risco, 67 pacientes, que apresentavam, pelo menos, um fator de risco para morte súbita cardíaca (história familiar de morte súbita; síncope inexplicada; espessura septal do miocárdio >=30 mm; taquicardia ventricular não sustentada; queda da pressão sistólica no teste de esforço)...

Introduction: Hypertrophic cardiomyopathy (HCM) is defined as the myocardial hypertrophy in the absence of cardiac or systemic disease, being the most common genetic transmission cardiopathy and responsible for sudden cardiac death (SCD) in young adults and athletes. The first-line treatment option for prevention of SCD is the implantable cardioverter-defibrillator (ICD). Some clinical factors have been identified as high risk for the occurrence of SCD: history of cardiac resuscitation for ventricular fibrillation, episode of sustained ventricular tachycardia, family history of premature SCD, unexplained syncope, ventricular septal thickness >= 30 mm; nonsustained ventricular tachycardia (NSVT) in Holter and inadequate response of blood pressure to exercise: decrease in systolic blood pressure (SBP) > 20 mmHg or increase < 20 mmHg during effort. These criteria, however, are limited in sensitivity and specificity and new diagnostic methods have been required. The microvolt T-wave alternans (MTWA) is used as a diagnostic tool to identify high-risk patients predisposed to malignant ventricular arrhythmias and SCD. Therefore, MTWA may be helpful to indicate ICD. There are no reports in the literature concerning the use of MTWA in HCM. This research aims to evaluate the values of MTWA by modified moving average (MMA) method and the association with clinical factors for SCD. Methods: We enrolled 132 patients with HCM that were divided into two groups: 1) High Risk (HR) group, 67 patients, that had at least one risk factor for sudden cardiac death (family history of SCD; unexplained syncope; ventricular septal thickness >= 30 mm; nonsustained ventricular tachycardia; inadequate response of blood pressure to exercise) and 2) Low Risk (LR) group, 65 patients, without risk factors. The most participants were male (63%) and their mean age was 37 (± 11.3) years...

Plasma pro-B-type natriuretic peptide testing as a screening method for hypertrophic cardiomyopathy.

BACKGROUND: Clinical multistage risk assessment associated with electrocardiogram (ECG) and NT-proBNP may be a feasible strategy to screen hypertrophic cardiomyopathy (HCM). We investigated the effectiveness of a screening based on ECG and NT-proBNP in first-degree relatives of patients with HCM. METHODS AND RESULTS: A total of 106 first-degree relatives were included. All individuals were evaluated by echocardiography, ECG, NT-proBNP, and molecular screening (available for 65 individuals). From the 106 individuals, 36 (34%) had diagnosis confirmed by echocardiography. Using echocardiography as the gold standard, ECG criteria had a sensitivity of 0.71, 0.42, and 0.52 for the Romhilt-Estes, Sokolow-Lyon, and Cornell criteria, respectively. Mean values of NT-ProBNP were higher in affected as compared with nonaffected relatives (26.1 vs. 1290.5, P < .001). The AUC of NT-proBNP was 0.98. Using a cutoff value of 70 pg/mL, we observed a sensitivity of 0.92 and specificity of 0.96. Using molecular genetics as the gold standard, ECG criteria had a sensitivity of 0.67, 0.37, and 0.42 for the Romhilt-Estes, Sokolow-Lyon, and Cornell criteria, respectively. Using a cutoff value of 70 pg/mL, we observed a sensitivity of 0.83 and specificity of 0.98. CONCLUSION: Values of NT-proBNP above 70 pg/mL can be used to effectively select high-risk first-degree relatives for HCM screening.

Leopard syndrome and hypertrophic cardiomyopathy: an association related to sudden death.

We describe an uncommon association between Leopard syndrome and hypertrophic cardiomyopathy in a 27-year-old woman, who was little symptomatic and came for sudden death risk stratification and prevention. She has a rare syndrome, whose symptoms are maculae over the body and abnormalities in eyes, genital organs, heart and in growth. Association of hypertrophic cardiomyopathy with sudden death risk factors determined the implantation of cardioverter-defibrillator (ICD) for primary prevention.

Síndrome Leopard e miocardiopatia hipertrófica: uma associação relacionada à morte súbita / Síndrome leopard y miocardiopatía hipertrófica: una asociación relacionada a la muerte súbita / Leopard syndrome and hypertrophic cardiomyopathy: an association related to sudden death

Relatamos a rara associação entre síndrome Leopard e miocardiopatia hipertrófica em mulher de 27 anos, pouco sintomática, que veio para estratificação e prevenção de risco de morte súbita. Portadora de uma síndrome rara, que se manifesta com pequenas máculas disseminadas pelo corpo, além de alterações oculares, genitais, cardíacas e de crescimento. A associação de miocardiopatia hipertrófica com fatores de risco de morte súbita determinou a indicação do implante de cardiodesfibrilador (CDI) para prevenção primária.

We describe an uncommon association between Leopard syndrome and hypertrophic cardiomyopathy in a 27-year-old woman, who was little symptomatic and came for sudden death risk stratification and prevention. She has a rare syndrome, whose symptoms are maculae over the body and abnormalities in eyes, genital organs, heart and in growth. Association of hypertrophic cardiomyopathy with sudden death risk factors determined the implantation of cardioverter-defibrillator (ICD) for primary prevention.

Relatamos la rara asociación entre síndrome Leopard y miocardiopatía hipertrófica en una mujer de 27 años, poco sintomática, que vino para estratificación y prevención de riesgo de muerte súbita. Portadora de un síndrome raro, que se manifiesta con pequeñas manchas diseminadas por el cuerpo, además de alteraciones oculares, genitales, cardíacas y de crecimiento. La asociación de miocardiopatía hipertrófica con factores de riesgo de muerte súbita determinó la indicación del implante de cardiodesfibrilador (CDI) para prevención primaria.