# Familial left ventricular noncompaction cardiomyopathy associated with the p.Asp461Asn MYH7 variant

## TL;DR

This paper reports the first case of a family with left ventricular noncompaction cardiomyopathy linked to a specific MYH7 gene variant, highlighting its potential role in disease development.

## Contribution

The study presents the first documented familial case of LVNC associated with the MYH7 p.Asp461Asn variant.

## Key findings

- The MYH7 p.Asp461Asn variant was found in multiple family members across three generations.
- Clinical variability was observed among affected individuals with LVNC.
- The variant is suggested to play a significant role in LVNC pathogenesis.

## Abstract

Left ventricular noncompaction cardiomyopathy (LVNC) is a distinct form of cardiomyopathy that may present as either an inherited or a sporadic condition. This report describes the first documented case of familial LVNC associated with the MYH7 p.Asp461Asn variant. Phenotypic variability among affected individuals within the family was assessed to identify potential contributors to the observed clinical heterogeneity in LVNC. The reported family included 10 individuals across three generations. Two members were diagnosed with LVNC, and 1 was classified as having suspected LVNC. Identical twins (Ⅱ-1 and Ⅱ-3) were both found to harbor the heterozygous missense variant c.1381G > A (p.Asp461Asn) in the MYH7 gene. Subsequent pedigree analysis confirmed the presence of this variant in individuals Ⅲ-1, Ⅲ-2, and Ⅲ-4. Clinical observations from this familial case highlight the importance of early identification and intervention in patients with LVNC to mitigate the risks of heart failure, sudden cardiac death, and thromboembolic events. The MYH7 variant plays a significant role in the pathogenesis of LVNC and may represent a promising target for future gene-based therapies aimed at improving patient outcomes.