Natural history of MYH7-related dilated cardiomyopathy

Abstract Background Variants in MYH7 are responsible for disease 1–5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history MYH7-related DCM poorly described. Objectives We sought to determine phenotype prognosis DCM. also evaluated influence variant location on phenotypic expression. Methods studied data from 147 individuals DCM-causing variants (47.6% females, 35.6±19.2 years) recruited 29 international centers. Results At initial evaluation, 106 (72.1%) had (LVEF 34.5±11.7%). Median follow-up was 4.5 years (interquartile range: 1.7–8.0). 23.7% carriers who were initially phenotype-negative developed Disease penetrance by 40 60 46% 88%, respectively, 18 (16%) first diagnosed at <18 years. Thirty-six percent met imaging criteria LV non-compaction. During follow-up, 28% showed left ventricular reverse remodeling (LVRR). Overall incidence end-stage heart failure (heart transplantation or related death) 11.6% 5 major arrhythmia rate low (1.0% even among LVEF ≤35% (2.1% years). non-compaction more prevalent head domain (S1) (44.2%) compared other domains (P<0.001). No differences groups found regarding LVRR, arrhythmias failure. Conclusions is characterized early age onset, high penetrance, frequent progression ESHF. Heart complications predominate over arrhythmias, severe systolic disfunction. Funding Acknowledgement Type funding sources: None.