Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome

  • Tahereh Davarpasand Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Maryam Sotoudeh Anvari Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Mohammad Naderan Mail Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Mohammad Ali Boroumand Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Hossein Ahmadi Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.
Keywords:
Mulibrey nanism • Pericarditis, constrictive • Amenorrhea • Syndactyly

Abstract

Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symptoms of dyspnea on exertion and shortness of breath. She had severe growth failure and craniofacial dysmorphic feature. Cardiac evaluation showed constrictive pericarditis, moderate pulmonary hypertension, and mild pericardial effusion. The patient underwent pericardiectomy, but her thick and adhesive pericardium forced the surgeon to do partial pericardiotomy. Our report underlines the importance of attention to probable Mulibrey nanism when confronting patients with primary amenorrhea, growth retardation, and dysmorphic features. Early cardiac examination is of great significance in the course of the disorder, and patients must be pericardiectomized to relieve the symptoms and increase survival.

Published
2017-02-11
How to Cite
1.
Davarpasand T, Sotoudeh Anvari M, Naderan M, Boroumand MA, Ahmadi H. Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome. J Tehran Heart Cent. 11(4):187-191.
Section
Case Report(s)