Features include always present findings: Myocardial fibrosis, Dyspnea, Moderately reduced left ventricular ejection fraction, and Mildly reduced left ventricular ejection fraction and others; and common findings: Severely reduced left ventricular ejection fraction, Premature ventricular contraction, and Ventricular tachycardia.

MYZAP encodes myocardial zonula adherens protein (466 aa). Plays a role in cellular signaling via Rho-related GTP-binding proteins and subsequent activation of transcription factor SRF. Targets TJP1 to cell junctions. Highest expression in Heart Left Ventricle (309.2 TPM) and Heart Atrial Appendage (272.8 TPM).

Cardiomyopathy, dilated, 2K has been associated with mutations in the MYZAP gene on chromosome 15.

MYZAP is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for MYZAP is available. Testing is considered supportive for diagnosis.

Phenotype severity distribution: 8 always present features, 3 common features.