Dilated cardiomyopathy-2K (CMD2K) is a severe form of autosomal recessive CMD, characterized by predominantly left ventricular involvement, although patients with biventricular disease have been observed. Affected individuals show localized subepicardial and midmyocardial fibrosis, fibrofatty infiltration of the septum and posterior wall, and/or diffuse myocardial fibrosis. Patients experience atrial and ventricular arrhythmias, including atrial tachycardia, flutter, and fibrillation; ventricular and supraventricular extrasystoles; and nonsustained as well as sustained ventricular tachycardia. Severe systolic dysfunction results in heart failure; sudden death may occur, and some patients require cardiac transplantation (Helio et al., 2021; Maver et al., 2022; Ochoa et al., 2024).
For a general phenotypic description and discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). [from
OMIM]