{
  "abstract": "Background Shprintzen-Goldberg syndrome (SGS) shares skeletal features with Marfan syndrome (MFS), but differs in its craniofacial and neurodevelopmental features. Cardiovascular features have been specifically investigated in few of the 57 known patients with SGS described in the literature, making it difficult to determine their prevalence and characteristics.Methods We reviewed the medical records of an international cohort of 29 patients, with a particular focus on cardiovascular features. Data were compared with those of MFS.Results The sex ratio was 1.9 and median age was 23 years (range: 4–54). 13 patients (44.8%) had mitral regurgitation (MR), 11 (37.9%) had a thoracic aortic aneurysm (TAA) and 9 (31.1%) had aortic regurgitation (AR). No cases of aortic dissection were reported. None had beta-blockers as a primary prevention of aortic events. The Kaplan-Meier method revealed a 30 years risk of 47%, 33% and 22% for occurrence of MR, TAA and AR, respectively. A statistically significant association was found between variants in the Dachshund Homology Domain and the risk of aortic aneurysm (11/20 vs 0/9, p=0.036).Conclusion Patients with SGS also significantly have cardiovascular manifestations, encouraging the implementation of a follow-up and preventive cardiovascular treatment identical to that of MFS.",
  "authors": [
    {
      "affiliations": [
        "Clinical Genetics, University Hospital Centre Dijon Bourgogne, Dijon, France"
      ],
      "name": "Yordi-Michaël Bouhatous"
    },
    {
      "affiliations": [
        "Département de Génétique, Assistance Publique - Hopitaux de Paris, Paris, France",
        "LVTS, INSERM U1148, Paris, France"
      ],
      "name": "Pauline Arnaud"
    },
    {
      "affiliations": [
        "LVTS, INSERM U1148, Paris, France",
        "Centre de Référence Maladies Rares Syndrome de Marfan et apparentés, Hôpital Bichat, Assistance Publique - Hopitaux de Paris, Paris, Île-de-France, France"
      ],
      "name": "Guillaume Jondeau"
    },
    {
      "affiliations": [
        "Service de génétique, Centre Hospitalier Universitaire d’Angers, Angers, Pays de la Loire, France"
      ],
      "name": "Dominique Bonneau"
    },
    {
      "affiliations": [
        "Service médicochirurgical des valvulopathies, Centre Hospitalier Universitaire, Angers, France"
      ],
      "name": "Frédéric Rouleau"
    },
    {
      "affiliations": [
        "Service de Génétique, CHU Clémenceau, Caen, France"
      ],
      "name": "Ghislaine Plessis"
    },
    {
      "affiliations": [
        "Service de génétique, Centre Hospitalier Universitaire, Caen, France"
      ],
      "name": "Aline Vincent"
    },
    {
      "affiliations": [
        "Service de Cardiologie, CHU Caen, Caen, France"
      ],
      "name": "Fabien Labombarda"
    },
    {
      "affiliations": [
        "Cardiologie pédiatrique, Service de pédiatrie, CHU Caen, Caen, Basse-Normandie, France"
      ],
      "name": "Pascale Maragnes"
    },
    {
      "affiliations": [
        "Clinicl genetics, University Hospital Centre Dijon Bourgogne, Dijon, France"
      ],
      "name": "Julian Delanne"
    },
    {
      "affiliations": [
        "Unité de cardiologie congénitale et pédiatrique, Hôpital d’Enfants, Dijon, France"
      ],
      "name": "Matthias Muller"
    },
    {
      "affiliations": [
        "Genetic Services, A. de Villeneuve Hospital, Montpellier, France"
      ],
      "name": "Christine Coubes"
    },
    {
      "affiliations": [
        "Service de cardiologie, Centre Hospitalier Universitaire, Montpellier, France"
      ],
      "name": "Charlene Bredy"
    },
    {
      "affiliations": [
        "Centre de Référence Maladies Rares Syndrome de Marfan et apparentés, Hôpital Bichat, AP-HP, Paris, Île-de-France, France"
      ],
      "name": "Laurent Gouya"
    },
    {
      "affiliations": [
        "Service de Génétique Clinique, CLAD Ouest, CHU Rennes, RENNES, France"
      ],
      "name": "Sylvie Odent"
    },
    {
      "affiliations": [
        "Cardiology Office, Rennes, Bretagne, France"
      ],
      "name": "Adeline Basquin"
    },
    {
      "affiliations": [
        "HHT Reference center and genetics department, Hospices Civils de Lyon, BRON, France"
      ],
      "name": "Sophie Dupuis-Girod"
    },
    {
      "affiliations": [
        "Service des explorations fonctionnelles cardiovasculaires, Hôpital cardiologique Louis Pradel, Bron, France"
      ],
      "name": "Martine Barthelet"
    },
    {
      "affiliations": [
        "Génétique médicale, GHRMSA, Mulhouse, France"
      ],
      "name": "Emmanuelle Ginglinger"
    },
    {
      "affiliations": [
        "Genetics, GHICL, Lille, France"
      ],
      "name": "Bruno Delobel"
    },
    {
      "affiliations": [
        "Cabinet Vendôme de cardiologie adulte et pédiatrique, Intercard, Lille, France"
      ],
      "name": "Guy Vaksmann"
    },
    {
      "affiliations": [
        "service de pédiatrie, CHU Félix Guyon, Saint-Denis, La Réunion, Réunion"
      ],
      "name": "Jean-Luc Alessandri"
    },
    {
      "affiliations": [
        "Service de cardiologie, Centre Hospitalier Universitaire de La Réunion, Saint-Denis, La Réunion, Réunion"
      ],
      "name": "Louis André Arsac"
    },
    {
      "affiliations": [
        "Reference Center for Marfan syndrome and related diseases, CHU Toulouse, Toulouse, France",
        "INSERM U1301, Paul Sabatier University, RESTORE, Toulouse, France"
      ],
      "name": "Edouard Thomas"
    },
    {
      "affiliations": [
        "Reference Center for Marfan syndrome and related diseases, CHU Toulouse, Toulouse, France",
        "INSERM U1301, Paul Sabatier University, RESTORE, Toulouse, France"
      ],
      "name": "Sophie Julia"
    },
    {
      "affiliations": [
        "Reference Center for Marfan syndrome and related diseases, CHU Toulouse, Toulouse, France",
        "INSERM U1301, Paul Sabatier University, RESTORE, Toulouse, France"
      ],
      "name": "Bertrand Chesneau"
    },
    {
      "affiliations": [
        "Reference Center for Marfan syndrome and related diseases, CHU Toulouse, Toulouse, France",
        "INSERM U1301, Paul Sabatier University, RESTORE, Toulouse, France"
      ],
      "name": "Yves Dulac"
    },
    {
      "affiliations": [
        "Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium"
      ],
      "name": "Bert Callewaert"
    },
    {
      "affiliations": [
        "Antwerp University Hospital, Antwerp, Belgium"
      ],
      "name": "Bart Loeys"
    },
    {
      "affiliations": [
        "Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium"
      ],
      "name": "Maxim Vaerle"
    },
    {
      "affiliations": [
        "Department of Pediatrics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands",
        "Neuroscience - Cellular and Molecular Mechanisms, Amsterdam Neuroscience, Amsterdam, North Holland, The Netherlands"
      ],
      "name": "Leonie A Menke"
    },
    {
      "affiliations": [
        "Cardiologie Centra Nederland, Cardiologie Centra Nederland, Amsterdam, The Netherlands"
      ],
      "name": "Maarten Groenink"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, The Children’s Hospital at Westmead, Westmead, New South Wales, Australia",
        "Marfan Research Group, The Children’s Hospital at Westmead, Westmead, New South Wales, Australia"
      ],
      "name": "Lesley Ades"
    },
    {
      "affiliations": [
        "Unit of Medical Genetics. Pediatric Service, University Hospital Virgen de la Arrixaca, MURCIA, Murcia, Spain"
      ],
      "name": "Maria Juliana Ballesta-Martinez"
    },
    {
      "affiliations": [
        "Center for Craniofacial Disorders, Children’s Hospital at Montefiore Medical Center, Bronx, New York, USA"
      ],
      "name": "Alan L Shanske"
    },
    {
      "affiliations": [
        "Zentrum Medizinische Genetik, Medizinische Universität Innsbruck, Innsbruck, Tirol, Austria"
      ],
      "name": "Sigrid Tinschert"
    },
    {
      "affiliations": [
        "Charité Universitätsmedizin Berlin Medizinische Klinik mit Schwerpunkt Kardiologie, Berlin, BE, Germany"
      ],
      "name": "Petra Gehle"
    },
    {
      "affiliations": [
        "Centre de Génétique, Hôpital d’Enfants, CHU Dijon, Dijon, France",
        "INSERM UMR1231, Équipe Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France"
      ],
      "name": "Christel Thauvin-Robinet"
    },
    {
      "affiliations": [
        "Service de cardiologie 2 : Rythmologie et Insuffisance Cardiaque, University Hospital Centre Dijon Bourgogne, Dijon, France"
      ],
      "name": "Jean-Christophe Eicher"
    },
    {
      "affiliations": [
        "Unité de cardiologie congénitale et pédiatrique, Hôpital d’Enfants, Dijon, France"
      ],
      "name": "Sylvie Falcon-Eicher"
    },
    {
      "affiliations": [
        "Département de Génétique, Assistance Publique - Hopitaux de Paris, Paris, France",
        "LVTS, INSERM U1148, Paris, France"
      ],
      "name": "Catherine Boileau"
    },
    {
      "affiliations": [
        "CIC-EC, Dijon, France"
      ],
      "name": "Christine Binquet"
    },
    {
      "affiliations": [
        "Département de Génétique, Assistance Publique - Hopitaux de Paris, Paris, France",
        "LVTS, INSERM U1148, Paris, France"
      ],
      "name": "Nadine Hanna"
    },
    {
      "affiliations": [
        "Centre de Génétique, Hôpital d’Enfants, Dijon, France"
      ],
      "name": "Laurence Faivre"
    }
  ],
  "title": "Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS",
  "uid": "ef57892b-7c6a-5f14-ada1-be2ee77dc504"
}