Genetic ideology of dilated cardiompathy.
Familial cardiomyopathies represent a substantial portion of idiopathic dilated cardiomyopathy in clinical practice. Diversity of clinical presentations and variability in penetrance lead to under-recognition of this disease entity as an inherited disorder. The mechanisms by which mutations in different genes perturb cardiac function and lead to pathologic remodeling help us understand the molecular pathways in disease pathogenesis and define the potential targets for therapeutic interventions. Appreciating when DCM is inherited might spare unnecessary diagnostic efforts and, instead, help give appropriate attention to the timely detection of subclinically affected family members. Establishing preventive therapy in asymptomatic family members showing early signs of cardiac dysfunction might prevent death and slow down progression to end-stage heart failure.
Arad
Michael
M
Heart Failure Clinic, Heart Institute, Sheba Medical Center, Tel Hashomer, Israel. Michael.arad@sheba.health.gov.il
Lahat
Hadas
H
Freimark
Dov
D
D017668:Age of Onset; D000465:Algorithms; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008661:Metabolism, Inborn Errors; D009154:Mutation