Dubucs Charlotte, Aziza Jacqueline, Sartor Agnès, Heitz François, Sevely Annick, Sternberg Damien, Jardel Claude, Cavallé-Garrido Tiscar, Albrecht Steffen, Bernard Chantal, De Bie Isabelle, Chassaing Nicolas
Département d'Anatomie et de Cytologie Pathologiques, Institut Universitaire du Cancer de Toulouse, Toulouse, France.
Service de Génétique Médicale, CHU Toulouse, Toulouse, France.
Mol Syndromol. 2023 Apr;14(2):101-108. doi: 10.1159/000526022. Epub 2022 Oct 21.
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.
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.
The assessment revealed a deficiency in complex I of the respiratory chain and two likely pathogenic variations in the gene.
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 molecular testing should be included among other prenatal investigations.
肥厚型心肌病（HCM）的产前表现较为罕见。我们描述了与宫内生长受限相关的产前HCM家族复发情况以及所采取的诊断过程。
对两例产前HCM妊娠进行了随访。进行了包括代谢分析、基因分析和呼吸链研究在内的生物学评估。我们描述了这两例妊娠的临床过程、产前表现以及特定的组织病理学发现，并对文献进行了综述。
评估显示呼吸链复合体I存在缺陷，且该基因有两个可能的致病变异。
产前HCM较为罕见，且并非总能做出诊断。在出现心肌病和宫内生长受限的妊娠中，应将ACAD9缺乏症视为潜在的基础诊断之一，并且分子检测应纳入其他产前检查之中。
