RESUMO
Patients with advanced heart failure have poor prognosis despite traditional pharmacological therapies. The early identification of these subjects would allow them to be addressed on time in dedicated centers to select patients eligible for heart transplantation or ventricular assistance. In this article we will report the current management of these patients based on latest international guidelines, underlining some critical aspects, with reference to future perspectives.
Assuntos
Técnicas de Ablação/métodos , Terapia de Ressincronização Cardíaca/métodos , Insuficiência Cardíaca/cirurgia , Transplante de Coração/métodos , Coração Auxiliar , Substituição da Valva Aórtica Transcateter/métodos , Idoso , Idoso de 80 Anos ou mais , Fibrilação Atrial/cirurgia , Feminino , Insuficiência Cardíaca/mortalidade , Humanos , Masculino , Insuficiência da Valva Mitral/cirurgia , Taquicardia Ventricular/cirurgiaRESUMO
Here we report the identification of two novel mutations in a previously asymptomatic young man who suffered an out-of-hospital sudden cardiac arrest. During following evaluation, diagnosis of early stage dilated cardiomyopathy was established, while electrocardiogram monitoring showed frequent complex ventricular arrhythmias, incomplete right bundle branch block and prolonged QT duration. No reversible causes explaining the clinical presentation were established and an automatic implantable cardioverter defibrillator was therefore implanted. Heterozygous mutations in human protein coding genes NKX2-5 and RBM20 are associated with a wide array of pathological phenotypes some of which are sudden cardiac death, unexplained syncope and either combined or isolated congenital heart diseases such as dilated cardiomyopathy.