Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

Lois J. Starr, Dorothy K. Grange, Jeffrey W. Delaney, Anji T. Yetman, James M. Hammel, Jennifer N. Sanmann, Deborah A. Perry, G. Bradley Schaefer, Ann Haskins Olney

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


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 SMAD4. 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.

Original languageEnglish
Pages (from-to)2893-2901
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
StatePublished - Dec 1 2015


  • Connective tissue disorder
  • Myhre syndrome
  • Restrictive cardiomyopathy
  • SMAD4
  • TGFβ


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