Complex phenotype in cardiomyopathies: clinical and genetic features

Abstract

Primary cardiomyopathies (CM) are progressive myocardial disorders characterized by variable symptoms and risk of sudden cardiac death. Combination of signs of different CM types are often diagnosed during clinical survey. Clinical and genetic examinations were performed for 186 patients; in 9 (4.8%) probands the diagnostic criteria of two different types of CM were fulfilled. Potentially pathogenic genetic variants associated with both CM types were found in desmosomal and sarcomeric genes in 4 of 9 our probands.