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Journal Article
Review
Inherited cardiomyopathies.
Cardiomyopathies (ie, diseases of the heart muscle) are major causes of morbidity and mortality. A significant percentage of patients with cardiomyopathies have genetic-based, inheritable disease and, over the past 2 decades the genetic causes of these disorders have been increasingly discovered. The genes causing these disorders when they are mutated appear to encode proteins that frame a "final common pathway" for that specific disorder, but the specifics of the phenotype, including age of onset, severity, and outcome is variable for reasons not yet understood. The "final common pathways" for the classified forms of cardiomyopathy include the sarcomere in the primarily diastolic dysfunction disorders hypertrophic cardiomyopathy and restrictive cardiomyopathy, the linkage of the sarcomere and sarcolemma in the systolic dysfunction disorder dilated cardiomyopathy, and the desmosome in arrhythmogenic cardiomyopathy. Left ventricular noncompaction cardiomyopathy (LVNC) is an overlap disorder and it appears that any of these "final common pathways" can be involved depending on the specific form of LVNC. The genetics and mechanisms responsible for these clinical phenotypes will be described.
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