Current perspectives on the diagnosis and management of dilated cardiomyopathy Beyond heart failure: a Cardiomyopathy Clinic Doctor's point of view

Abstract

Left ventricular enlargement and dysfunction are fundamental components of dilated cardiomyopathy (DCM). DCM is a major cause of heart failure and cardiac transplantation. A wide variety of etiologies underlie acquired and familial DCM. Familial disease is reported in 20% to 35% of cases. A genetic substrate is recognized in at least 30% of familial cases. A recently proposed scheme defines DCM as a continuum of subclinical and clinical phenotypes. The evolution of classification systems permitted use of effective treatment strategies in disorders sharing the same structural and functional characteristics and common clinical expression. The major causes of death are progressive heart failure and sudden cardiac death secondary to ventricular arrhythmias or less commonly bradyarrhythmias. Remarkable progress has been made in survival owing to well-defined evidence-based therapies and appropriate guidelines for risk stratification and sudden cardiac death prevention measures. Neurohormonal antagonists and device therapy decreased all-cause mortality in adult patients with DCM. However, additional red flags in diagnosis have to be addressed in everyday practice, and cardiologists have to be aware of the subsequent effect on risk stratification and treatment plan. Genetic substrate cannot be modified, but the presence of a peculiar type of gene mutation modifies thresholds for implantable cardioverter defibrillator (ICD) implantation. DCM is part of the spectrum of heart failure which is a syndrome with certain morphological and functional characteristics. Although significant progress has been achieved in the management of patients with DCM, it seems that the future treatments of this entity will be related to the specific pathological substrate.

Keywords: Cardiomyopathy; Dilated; Familial; Genetics; Myocarditis.