Molecular basis of familial cardiomyopathies

K Schwartz, L Carrier, P Guicheney, M Komajda - Circulation, 1995 - Am Heart Assoc
K Schwartz, L Carrier, P Guicheney, M Komajda
Circulation, 1995Am Heart Assoc
Cardiomyopathies represent a variety of cardiac diseases that are an important cause of
morbidity and mortality throughout the world in children and adults and whose definition and
classification have evolved since the middle of this century. Currently, they are defined as
“heart muscle diseases of unknown etiology” and are classified as dilated, hypertrophic, or
restrictive, depending on the type of functional impairment. 1 The dilated forms (dilated
cardiomyopathy, DCM) are the most common variety. They are characterized by a marked …
Cardiomyopathies represent a variety of cardiac diseases that are an important cause of morbidity and mortality throughout the world in children and adults and whose definition and classification have evolved since the middle of this century. Currently, they are defined as “heart muscle diseases of unknown etiology” and are classified as dilated, hypertrophic, or restrictive, depending on the type of functional impairment. 1 The dilated forms (dilated cardiomyopathy, DCM) are the most common variety. They are characterized by a marked ventricular dilation, poor systolic function, the development of progressive refractory congestive heart failure, and a poor prognosis. Their prevalence in the US population is estimated to be 36.5 per 100 000 persons. 2 The hypertrophic forms (hypertrophic cardiomyopathy, HCM) are defined by the presence of unexplained left ventricular hypertrophy that is usually predominant in the interventricular septum and may or may not be associated with right ventricular hypertrophy. Cellular disorganization (myocardial disarray) is present in most patients in the interventricular septum as well as in the free wall. The disease is associated with diastolic dysfunction, myocardial ischemia, and life-threatening arrhythmias, and patients are prone to sudden death. The prevalence of HCM is reported to be 17.9 per 100 000 persons. 2 Restrictive cardiomyopathy is extremely rare in western countries.
Although apparently clear, this clinical classification presents major limitations: specific cardiac diseases such as hypertension or ischemic heart disease, as well as general disorders with cardiac involvement, can mimic the clinical presentation of idiopathic cardiomyopathies. Moreover, an overlap exists between these categories. For instance, in end-stage HCM, a marked dilation of both ventricles, similar to that observed in DCM, can be present. Most important, this classification does not address the underlying molecular disorders responsible for the development of the “clinical” cardiomyopathy.
Am Heart Assoc