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

[摘要] 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.

[学科分类] 基础医学

[关键词] ACAD9 mutations;Antenatal hypertrophic cardiomyopathy;Intrauterine growth restriction;Mitochondrial complex I deficiency;Fetal histopathology;Congenital disease