RESUMO
Dilated cardiomyopathy (DCM) is myocardial disorder characterized by progressive heart chambers enlargement and impairment of myocardial contractility. This disorder is the most common cause of advanced heart failure requiring the heart transplantation. The prevalence of the disease is 36.5 per 100 000 in population. About 20-30% of cases are familial. Disease is genetically heterogenous, there more than 100 genes when mutated can give rise a DCM. In 2004, the role of SCN5A gene mutations was shown in origin of DCM with cardiac conduction defects and arrhythmias. In this work we present a clinical case of dilated cardiomyopathy with cardiac arrhythmias and p.E446K mutation in SCN5A gene. We have observed DCM with mild left ventricular hypertrophy, progressive AV block, atrial fibrillation and congenital heart defect (atrium septal defect) in two generations. The congenital heart defect did not co-segregate with SCN5A mutation and DCM.
Assuntos
Fibrilação Atrial , Bloqueio Atrioventricular , Procedimentos Cirúrgicos Cardíacos/métodos , Cardiomiopatia Dilatada , Comunicação Interatrial , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Fibrilação Atrial/complicações , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/genética , Fibrilação Atrial/fisiopatologia , Fibrilação Atrial/terapia , Bloqueio Atrioventricular/complicações , Bloqueio Atrioventricular/diagnóstico , Bloqueio Atrioventricular/genética , Bloqueio Atrioventricular/fisiopatologia , Bloqueio Atrioventricular/terapia , Estimulação Cardíaca Artificial/métodos , Cardiomiopatia Dilatada/complicações , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/genética , Cardiomiopatia Dilatada/fisiopatologia , Cardiomiopatia Dilatada/terapia , Comunicação Interatrial/complicações , Comunicação Interatrial/diagnóstico , Comunicação Interatrial/genética , Comunicação Interatrial/fisiopatologia , Comunicação Interatrial/cirurgia , Humanos , Hipertrofia Ventricular Esquerda/etiologia , Hipertrofia Ventricular Esquerda/fisiopatologia , Mutação , Marca-Passo Artificial , Linhagem , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
The orthotopic heart transplantation is an acknowledge method for the treatment of cardiomyopathies of various etiology. Specific vasculopathy of the transplanted heart is considered to be a significant problem of the long-term postoperative period and serves the reason of low 10-years survival rates (not more then 50%). The issue unites the experience of follow-up and intravital electronic microscopy of transplantated heart's biopsies from 20 patients. Previously unknown data can help the clarification of posttransplantational cardiomyopathy.
Assuntos
Cardiomiopatia Restritiva/patologia , Transplante de Coração/patologia , Doadores de Tecidos , Adulto , Biópsia , Cardiomiopatia Restritiva/etiologia , Cardiomiopatia Restritiva/mortalidade , Progressão da Doença , Feminino , Insuficiência Cardíaca/cirurgia , Transplante de Coração/efeitos adversos , Transplante de Coração/mortalidade , Humanos , Masculino , Microscopia Eletrônica , Pessoa de Meia-Idade , Miocárdio/ultraestrutura , Complicações Pós-Operatórias , Período Pós-Operatório , Prognóstico , Federação Russa/epidemiologia , Taxa de Sobrevida/tendências , Fatores de Tempo , Adulto JovemRESUMO
We present here analysis of surgical treatment of 24 patients (5 women, 19 men, age 20-75, mean age 50.7 +/- 2.5 years) with dilated cardiomyopathy (DCM) operated during the period from 2008 to 2013. Duration of the disease ranged from 4 months to 12 years (mean 49.4 +/- 7.5 months). According to symptoms and results of 6-minute walk test 3 patients (13%) had heart failure NYHA class III and 21 patients (87%)--NYHA class IV. Average end-diastolic left ventricular size was 7.4 +/- 0.18 cm (6.0-9.2 cm), ejection fraction--26.7 +/- 2.1% (13-47%), mean pulmonary artery pressure 54.9 +/- 2.9 mm Hg (35-80 mmHg). All patients underwent organ-conserving surgery aimed at reverse remodeling of the heart. Surgery was accompanied with implantation of implantable cardioverter defibrillator in 3 patients and/or cardiac resynchronization therapy device in 6 patients. Two patients (8.3%) died during hospitalization of hemodynamically significant ventricular arrhythmias; seven patients (29.2%) died in the late postoperative period. The results of the analysis indicate that reverse-remodeling surgery may be effective in patients with DCM of any age group with preserved reserves of the liver, kidney, and lung function in the absence of active myocarditis. Further observations are needed to determine the place of this operation in the protocol of treatment of patients with DCM.
