Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

ABSTRACT:

Purpose

To characterize the genetic architecture of left ventricular noncompaction (LVNC) and investigate the extent to which it may represent a distinct pathology or a secondary phenotype associated with other cardiac diseases.

Methods

We performed rare variant association analysis with 840 LVNC cases and 125,748 gnomAD population controls, and compared results to similar analyses on dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM).

Results

We observed substantial genetic overlap indicating that LVNC often represents a phenotypic variation of DCM or HCM. In contrast, truncating variants in MYH7, ACTN2, and PRDM16 were uniquely associated with LVNC and may reflect a distinct LVNC etiology. In particular, MYH7 truncating variants (MYH7tv), generally c

SUBMITTER: Mazzarotto F 

PROVIDER: S-EPMC8105165 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature