Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity

DOI Web Site Web Site Web Site 被引用文献2件
  • Pascale Richard
    APHP, Functional Unit of Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Hôpitaux Universitaires de la Pitié‐Salpêtrière‐Charles Foix Paris France
  • Flavie Ader
    APHP, Functional Unit of Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Hôpitaux Universitaires de la Pitié‐Salpêtrière‐Charles Foix Paris France
  • Maguelonne Roux
    Sorbonne Universités, UPMC Univ. Paris 06, INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition Paris France
  • Erwan Donal
    Service de Cardiologie Centre Hospitalier Régional Universitaire Pontchaillou Rennes France
  • Jean‐Christophe Eicher
    Service de Cardiologie CHU Dijon Bourgogne ‐ Hôpital François Mitterrand, 2 bd Maréchal de Lattre de Tassigny Dijon France
  • Nadia Aoutil
    APHP, Functional Unit of Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Hôpitaux Universitaires de la Pitié‐Salpêtrière‐Charles Foix Paris France
  • Olivier Huttin
    Service de Cardiologie CHU de Nancy, Hôpitaux de Brabois, rue du Morvan Vandœuvre‐lès‐Nancy France
  • Christine Selton‐Suty
    Service de Cardiologie CHU de Nancy, Hôpitaux de Brabois, rue du Morvan Vandœuvre‐lès‐Nancy France
  • Damien Coisne
    Service de Cardiologie CHU de Poitiers Poitiers France
  • Guillaume Jondeau
    APHP, Service Cardiologie, CHU Paris Nord‐Val de Seine ‐ Hôpital Xavier Bichat‐Claude Bernard Paris France
  • Thibaud Damy
    APHP, Service Cardiologie CHU Henri Mondor Créteil France
  • Nicolas Mansencal
    APHP, Service de Cardiologie CHU Ambroise Paré Boulogne Billancourt France
  • Anne‐Claire Casalta
    Cardiology Department APHM, La Timone Hospital Marseille France
  • Nicolas Michel
    Cardiology Department APHM, La Timone Hospital Marseille France
  • Julie Haentjens
    Cardiology Department APHM, La Timone Hospital Marseille France
  • Laurence Faivre
    Service de Génétique CHU Dijon Bourgogne ‐ Hôpital François Mitterrand Dijon France
  • Cecile Lavoute
    Cardiology Department APHM, La Timone Hospital Marseille France
  • Karine Nguyen
    APHM, Département de Génétique Médicale APHM, La Timone Hospital Marseille France
  • David‐Alexandre Tregouët
    Sorbonne Universités, UPMC Univ. Paris 06, INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition Paris France
  • Gilbert Habib
    Cardiology Department APHM, La Timone Hospital Marseille France
  • Philippe Charron
    Sorbonne Universités, UPMC Univ. Paris 06, INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition Paris France

説明

<jats:p>Left ventricular non‐compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias.</jats:p><jats:p>Fifty‐two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32.5%) with single variant and 9 patients with complex genotypes (9.5%). Mutated patients tended to have younger age at diagnosis than patients with no identified mutation. The most prevalent genes were <jats:italic>TTN</jats:italic>, then <jats:italic>HCN4, MYH7,</jats:italic> and <jats:italic>RYR2</jats:italic>. The distribution includes 13 genes previously reported in LVNC and 10 additional candidate genes.</jats:p><jats:p>Our results show that LVNC is basically a genetic disease and support genetic counseling and cardiac screening in relatives. There is a large genetic heterogeneity, with predominant <jats:italic>TTN</jats:italic> null mutations and frequent complex genotypes. The gene spectrum is close to the one observed in dilated cardiomyopathy but with specific genes such as <jats:italic>HCN4</jats:italic>. We also identified new candidate genes that could be involved in this sub‐phenotype of cardiomyopathy.</jats:p>

収録刊行物

被引用文献 (2)*注記

もっと見る

問題の指摘

ページトップへ