Dataset Information

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

ABSTRACT:

Introduction

Antenatal presentation of hypertrophic cardiomyopathy (HCM) is rare. We describe familial recurrence of antenatal HCM associated with intrauterine growth restriction and the diagnostic process undertaken.

Methods

Two pregnancies with antenatal HCM were followed up. Biological assessment including metabolic analyses, genetic analyses, and respiratory chain study was performed. We describe the clinical course of these two pregnancies, antenatal manifestations as well as specific histopathological findings, and review the literature.

Results

The assessment revealed a deficiency in complex I of the respiratory chain and two likely pathogenic variations in the ACAD9 gene.

Discussion and conclusion

Antenatal HCM is rare and a diagnosis is not always made. In pregnancies presenting with cardiomyopathy and intrauterine growth restriction, ACAD9 deficiency should be considered as one of the potential underlying diagnoses, and ACAD9 molecular testing should be included among other prenatal investigations.

SUBMITTER: Dubucs C

PROVIDER: S-EPMC10091013 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature

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Publications

Severe Antenatal Hypertrophic Cardiomyopathy Secondary to <i>ACAD9</i>-Related Mitochondrial Complex I Deficiency.

Dubucs Charlotte C Aziza Jacqueline J Sartor Agnès A Heitz François F Sevely Annick A Sternberg Damien D Jardel Claude C Cavallé-Garrido Tiscar T Albrecht Steffen S Bernard Chantal C De Bie Isabelle I Chassaing Nicolas N

Molecular syndromology 20221021 2

<h4>Introduction</h4>Antenatal presentation of hypertrophic cardiomyopathy (HCM) is rare. We describe familial recurrence of antenatal HCM associated with intrauterine growth restriction and the diagnostic process undertaken.<h4>Methods</h4>Two pregnancies with antenatal HCM were followed up. Biological assessment including metabolic analyses, genetic analyses, and respiratory chain study was performed. We describe the clinical course of these two pregnancies, antenatal manifestations as well as ...[more]

PMID: 37064341

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