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Article

Unravelling the Genotype of the Apical Variant of Hypertrophic Cardiomyopathy in a Swedish Cohort.

Genes - 26 Apr 2025

Kissopoulou Antheia, Ellegård Rada, Fernlund Eva Ingemarsdotter, Karlsson Jan-Erik, Green Henrik, Gunnarsson Cecilia

Abstract excerpt

BACKGROUND: Apical hypertrophic cardiomyopathy (ApHCM) is a distinct variant of hypertrophic cardiomyopathy (HCM). Few studies have focused on the genetic determinants of this subtype. We aimed to investigate the genetic basis of apical hypertrophy in a Swedish cohort. METHODS-RESULTS: Longitudinal data on 58 unrelated index patients with ApHCM from the Southeast healthcare region in Sweden from 2010 to 2024 were...

Read the complete abstract on PubMed

Topics

Humans
Male
Female
Middle Aged
Cardiomyopathy, Hypertrophic
Sweden
Adult

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Genotype

Cardiac Myosins

Myosin Heavy Chains

Genetic Testing

Retrospective Studies

Phenotype

Actins

Atrial Fibrillation

Cohort Studies

Aged

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 40428316
DOI: 10.3390/genes16050494
PMCID: PMC12111543

Genes

ACTA1
ALPK3
MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

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