Metabolic remodeling and cardiac dysfunction in left ventricular noncompaction: Insights from the MYH7 Q315R model.

ABSTRACT: Left ventricular noncompaction (LVNC) is a form of cardiomyopathy characterized by excessive trabeculation and a thin compacted myocardial layer. Variants in MYH7, which encodes the β-myosin heavy chain, are among the most commonly identified genetic causes of LVNC. Despite its clinical relevance, the metabolic disturbances associated with LVNC remain poorly understood, and the pathophysiological mechanisms have not been investigated in an animal model of MYH7-related LVNC. To address this gap, we generated a mouse model carrying the human MYH7 Gln315Arg (Q315R) variant, a representative mutation linked to LVNC. Mice with the MYH7 Q315R variant exhibited key features of LVNC, including impaired diastolic function, reduced contractility, and excessive trabeculations extending across the ven

SUBMITTER: Takarada S 

PROVIDER: S-EPMC12617873 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature