Features include always present findings: First degree atrioventricular block, Noncompaction cardiomyopathy, Left ventricular noncompaction, and Chest tightness and others; and very common findings: Ventricular septal defect. 15 total HPO annotations.

DTNA encodes dystrobrevin alpha (743 aa). May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors Highest expression in Brain Spinal cord cervical c-1 (84.4 TPM) and Brain Hypothalamus (62.3 TPM).

Left ventricular noncompaction 1 is associated with mutations in the DTNA gene on chromosome 18.

The DTNA protein participates in Recruitment of dystrophin, dystrobrevin and syntrophin proteins to the DGC pathway.

DTNA is classified as a druggable target with score 1.6.

Genetic testing for DTNA is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 1 very common feature.

No clinical trials have been registered for left ventricular noncompaction 1.

100 publications have been identified in PubMed for left ventricular noncompaction 1. Kisho has analyzed 28 by research type. Research spans Review / Meta-Analysis (61%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (14%).