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Updated: Jun 19, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Phenotype, genotype and prognosis of apical hypertrophic cardiomyopathies: a French multicentric cohort

Hélène Martel1, Claire Lucas1, Hamza Benjelloun2

  • 1Cardiology Department, AP-HM, La Timone Hospital, Hôpital La Timone Boulevard Jean Moulin, 13005 Marseille, France.

European Heart Journal. Cardiovascular Imaging
|June 17, 2026
PubMed

Insights

Apical hypertrophic cardiomyopathies (ApHCM) have a better long-term prognosis than non-apical HCM, despite frequent rhythmic complications not predicted by the SCD-risk score. Genetic mutations are less common in ApHCM, and apical aneurysms are more frequent.

Area of Science:

  • Cardiology
  • Genetics
  • Cardiovascular Imaging

Background:

  • Apical hypertrophic cardiomyopathies (ApHCM) are defined by left ventricular (LV) apical hypertrophy.
  • The genetic basis and prognosis of ApHCM remain subjects of ongoing research and debate.

Purpose of the Study:

  • To compare the clinical phenotype, genetic profiles, and long-term prognosis of ApHCM patients with those suffering from non-apical hypertrophic cardiomyopathy (HCM).

Main Methods:

  • A cohort of 201 ApHCM patients underwent comprehensive assessments including echocardiography, cardiac magnetic resonance, and genetic testing.
  • ApHCM patients were compared against 419 non-apical HCM patients.
  • Exclusion criteria included Fabry's disease and amyloidosis.

Main Results:

  • ApHCM patients exhibited higher LVEF, reduced LV obstruction, smaller left atrial volumes, and more impaired GLS compared to non-apical HCM.
  • Left ventricular aneurysms were more prevalent in ApHCM (10.9% vs 1.4%), while genetic mutations were less frequent (20.4% vs 43.4%).
  • During a 5-year follow-up, 6% of ApHCM patients experienced rhythmic events, all with an SCD-risk score below 4%, and overall survival was better in the ApHCM group.

Conclusions:

  • ApHCM is characterized by fewer genetic mutations and a more favorable prognosis than non-apical HCM.
  • Rhythmic complications are common in ApHCM but are not reliably predicted by the current SCD-risk score.
  • Apical HCM diagnosis requires ruling out conditions like Fabry's disease due to phenotypic overlap.
Abstract

Keywords:
CMRaneurysmapical hypertrophic cardiomyopathyechocardiographygenetic

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