Dilated cardiomyopathy [electronic resource] : from genetics to clinical management / Edited by Gianfranco Sinagra, Marco Merlo, MD, Bruno Pinamonti.

Includes bibliographical references.

1 Introduction -- 2 Epidemiology -- 3 Pathophysiology -- 4 Etiological definition and diagnostic work-up -- 5 Role of genetics and environmental factors -- 6 Clinical presentation, spectrum of disease, natural history -- 7 Role of cardiac imaging: echocardiography -- 8 Role of cardiac imaging: cardiac magnetic resonance and computed tomography -- 9 Endomyocardial biopsy -- 10 Arrhythmias in dilated cardiomyopathies -- 11 Regenerative Medicine and dilated cardiomyopathy -- 12 Prognostic stratification and importance of follow-up -- 14 Current management and treatment -- 14 Open issues and future perspectives -- 15 Dilated cardiomyopathy at the cross road: multidisciplinary approach.

Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by left ventricular or biventricular dilation and systolic dysfunction in the absence of either pressure or volume overload or coronary artery disease sufficient enough to explain the dysfunction. DCM is currently a relatively benign disease, with concrete treatment strategies and solid therapeutic regimens. However, clinical management of DCM patients is still one of the most challenging scenarios even for tertiary referral centers. DCM patients are usually young (between their 30s and 50s), still of working age with usually a solid economic and social background. Several pitfalls may be present during diagnostic workup and risk stratification of these patients. First of all, DCM is usually a mostly genetically determined disease. Indeed, the novel techniques of DNA sequencing revealed that genetically determined DCMs are vastly more common than once believed and it is far from being a monogenic disease, with multiple unknown epigenetic interactions. The incomplete penetrance and the epigenetic regulations are responsible for the so-called genotype-positive-phenotype-negative patients. Therefore, the management of information derived from genetic testing, both for probands and for relatives, is still debated and not definite. The continuous effort of researchers to identify the mechanism underlying the disease is fundamental to improving the survival of those patients.