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

IF 0.9 4区医学 Q4 GENETICS & HEREDITY Molecular Syndromology Pub Date : 2023-04-01 Epub Date: 2022-10-21 DOI:10.1159/000526022

Charlotte Dubucs, Jacqueline Aziza, Agnès Sartor, François Heitz, Annick Sevely, Damien Sternberg, Claude Jardel, Tiscar Cavallé-Garrido, Steffen Albrecht, Chantal Bernard, Isabelle De Bie, Nicolas Chassaing

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引用次数: 2

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.

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ACAD9相关线粒体复合体I缺乏继发的严重产前肥厚型心肌病。

引言：肥厚型心肌病（HCM）的产前表现是罕见的。我们描述了与宫内生长受限相关的产前HCM家族性复发和所进行的诊断过程。方法：对两例妊娠前HCM患者进行随访。进行了包括代谢分析、遗传分析和呼吸链研究在内的生物学评估。我们描述了这两次妊娠的临床过程、产前表现以及具体的组织病理学发现，并回顾了文献。结果：评估显示呼吸链复合体I存在缺陷，ACAD9基因存在两种可能的致病性变异。讨论和结论：产前HCM是罕见的，并不总是能得到诊断。在患有心肌病和宫内生长受限的妊娠中，ACAD9缺乏症应被视为潜在的潜在诊断之一，ACAD90分子检测应包括在其他产前调查中。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.