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
{"title":"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。","authors":"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","doi":"10.1159/000526022","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>The assessment revealed a deficiency in complex I of the respiratory chain and two likely pathogenic variations in the <i>ACAD9</i> gene.</p><p><strong>Discussion and conclusion: </strong>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 <i>ACAD9</i> molecular testing should be included among other prenatal investigations.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 2","pages":"101-108"},"PeriodicalIF":0.9000,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091013/pdf/msy-0014-0101.pdf","citationCount":"2","resultStr":"{\"title\":\"Severe Antenatal Hypertrophic Cardiomyopathy Secondary to <i>ACAD9</i>-Related Mitochondrial Complex I Deficiency.\",\"authors\":\"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\",\"doi\":\"10.1159/000526022\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>The assessment revealed a deficiency in complex I of the respiratory chain and two likely pathogenic variations in the <i>ACAD9</i> gene.</p><p><strong>Discussion and conclusion: </strong>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 <i>ACAD9</i> molecular testing should be included among other prenatal investigations.</p>\",\"PeriodicalId\":48566,\"journal\":{\"name\":\"Molecular Syndromology\",\"volume\":\"14 2\",\"pages\":\"101-108\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2023-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091013/pdf/msy-0014-0101.pdf\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Syndromology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1159/000526022\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/10/21 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Syndromology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000526022","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/10/21 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency.
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.
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.
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