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Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.

Abstract：

:Hypertrophic cardiomyopathy associated with damaging variants in the ALPK3 gene is a fairly recent discovery, and only a small number of patients have been described thus far. Here we present two additional patients with hypertrophic cardiomyopathy caused by biallelic variants in ALPK3. Genetic investigation was performed using a targeted gene panel consisting of known cardiomyopathy-associated genes and whole exome sequencing. The patients showed a large difference in the age of onset, and both presented with extracardiac features that are often seen in ALPK3 patients. The patient with the later onset showed milder extracardiac symptoms, such as decreased muscle tone and distal muscular dystrophy, but had fast progression of cardiac complications leading to the need of heart transplantation. This study further elucidates the variability of both symptoms and age of onset among these patients.

journal_name

Genes (Basel)

journal_title

Genes

authors

Jorholt J,Formicheva Y,Vershinina T,Kiselev A,Muravyev A,Demchenko E,Fedotov P,Zlotina A,Rygkov A,Vasichkina E,Sejersen T,Kostareva A

doi

10.3390/genes11101201

subject

Has Abstract

pub_date

2020-10-15 00:00:00

issue

10

issn

2073-4425

pii

genes11101201

journal_volume

11

pub_type

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