Article

ALPK3 heterozygous truncating variants cause late-onset hypertrophic cardiomyopathy with frequent apical involvement and apical aneurysm

2024-11-15

Abstract excerpt

<h4>ABSTRACT</h4> Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous disorder with several established genotype-phenotype relationships. While biallelic truncating variants in the ALPK3 gene cause severe congenital HCM, recent studies have associated heterozygous truncating variants (ALPK3tv) with milder adult-onset HCM. Here we describe a multicenter cohort of 21 individuals with heterozygous ALPK3t...

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Literature Corpus work: 52a768b1-3798-5b8b-a2b8-9169136586c1
DOI: 10.1101/2024.11.14.24317359

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