Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

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

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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 (US)
Pages (from-to)2893-2901
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number12
DOIs
StatePublished - Dec 1 2015

Fingerprint

Patent Ductus Arteriosus
Aortic Coarctation
Pericarditis
Deafness
Heart Transplantation
Natural History
Connective Tissue
Wound Healing
Cicatrix
Fibrosis
Joints
Pathology
Morbidity
Phenotype
Lung
Mutation
Mortality
Growth mental deficiency syndrome of Myhre

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Myhre syndrome : Clinical features and restrictive cardiopulmonary complications. / Starr, Lois J; Grange, Dorothy K.; Delaney, Jeffrey W; Yetman, Angela T; Hammel, James M; Sanmann, Jennifer N; Perry, Deborah A.; Schaefer, G. Bradley; Olney, Ann Haskins.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 12, 01.12.2015, p. 2893-2901.

Research output: Contribution to journalArticle

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