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Updated: Aug 2, 2025

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

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Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency

Charlotte Dubucs1,2, Jacqueline Aziza1, Agnès Sartor3

  • 1Département d'Anatomie et de Cytologie Pathologiques, Institut Universitaire du Cancer de Toulouse, Toulouse, France.

Molecular Syndromology
|April 17, 2023
PubMed

Insights

Familial hypertrophic cardiomyopathy (HCM) during pregnancy is rare. This study identified ACAD9 gene deficiency as a cause of antenatal HCM, linked to intrauterine growth restriction, guiding prenatal diagnosis.

Area of Science:

  • Genetics
  • Cardiology
  • Metabolic Disorders

Background:

  • Antenatal hypertrophic cardiomyopathy (HCM) is a rare condition.
  • Familial recurrence of antenatal HCM, particularly with intrauterine growth restriction (IUGR), is infrequently documented.

Purpose of the Study:

  • To describe the familial recurrence of antenatal HCM.
  • To investigate the diagnostic process for antenatal HCM associated with IUGR.
  • To identify potential genetic causes of antenatal HCM.

Main Methods:

  • Follow-up of two pregnancies with antenatal HCM.
  • Comprehensive biological assessment including metabolic and genetic analyses.
  • Respiratory chain enzyme activity studies and histopathological examination.

Main Results:

  • Identification of a deficiency in complex I of the respiratory chain.
  • Discovery of two likely pathogenic variations in the ACAD9 gene.
  • Correlation between ACAD9 deficiency, antenatal HCM, and IUGR.

Conclusions:

  • ACAD9 deficiency should be considered in pregnancies with cardiomyopathy and IUGR.
  • Molecular testing for ACAD9 mutations is recommended for prenatal investigations in such cases.
  • Early diagnosis of antenatal HCM can be improved by considering specific genetic deficiencies.
Abstract

Keywords:
ACAD9 mutationsAntenatal hypertrophic cardiomyopathyCongenital diseaseFetal histopathologyIntrauterine growth restrictionMitochondrial complex I deficiency

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