Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

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  • Lois J. Starr
    Division of Clinical Genetics University of Nebraska Medical Center Munroe‐Meyer Institute for Genetics and Rehabilitation Omaha Nebraska
  • Dorothy K. Grange
    Department of Pediatrics Division of Genetics and Genomic Medicine Washington University School of Medicine St. Louis Missouri
  • Jeffrey W. Delaney
    Division of Cardiology Children's Hospital and Medical Center Omaha Nebraska
  • Anji T. Yetman
    Division of Cardiology Children's Hospital and Medical Center Omaha Nebraska
  • James M. Hammel
    Division of Cardiac Surgery Children's Hospital and Medical Center Omaha Nebraska
  • Jennifer N. Sanmann
    University of Nebraska Medical Center Munroe‐Meyer Institute for Genetics and Rehabilitation Human Genetics Laboratory Omaha Nebraska
  • Deborah A. Perry
    Division of Pediatric Pathology Children's Hospital and Medical Center Omaha Nebraska
  • G. Bradley Schaefer
    Division of Medical Genetics Arkansas Children's Hospital Little Rock Arkansas
  • Ann Haskins Olney
    Division of Clinical Genetics University of Nebraska Medical Center Munroe‐Meyer Institute for Genetics and Rehabilitation Omaha Nebraska

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<jats:sec><jats:label /><jats:p>Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint movement, compact body habitus, and distinctive craniofacial and skeletal features, is caused by heterozygous mutations in <jats:italic>SMAD4</jats:italic>. Cardiac manifestations reported to date have included patent ductus arteriosus, septal defects, aortic coarctation and pericarditis. We present five previously unreported patients with Myhre syndrome. Despite varied clinical phenotypes all had significant cardiac and/or pulmonary pathology and abnormal wound healing. Included herein is the first report of cardiac transplantation in patients with Myhre syndrome. A progressive and markedly abnormal fibroproliferative response to surgical intervention is a newly delineated complication that occurred in all patients and contributes to our understanding of the natural history of this disorder. We recommend routine cardiopulmonary surveillance for patients with Myhre syndrome. Surgical intervention should be approached with extreme caution and with as little invasion as possible as the propensity to develop fibrosis/scar tissue is dramatic and can cause significant morbidity and mortality. © 2015 Wiley Periodicals, Inc.</jats:p></jats:sec>

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