Abstract
Patients with Mulibrey nanism (MUL) present with growth failure and multiple organ
manifestations, and MUL is caused by mutations in TRIM37. In this article, we report on the first case series of Japanese patients with MUL
who developed congestive heart failure due to constrictive pericarditis. Our case
series suggests that early diagnosis and total pericardiectomy before adherence of
the pericardium might provide clinical benefit and better prognosis for MUL.
Résumé
Le nanisme Mulibrey se caractérise par un retard de croissance et des manifestations
multiorganiques. Il est attribuable à des mutations du gène TRIM37. Dans la présente communication, nous faisons état de la première série de cas de
patients japonais atteints de nanisme Mulibrey chez qui une insuffisance cardiaque
congestive s’est constituée par suite d’une péricardite constrictive. Notre série
de cas donne à penser qu’un diagnostic précoce et une péricardectomie totale pratiquée
avant l’adhésion des feuillets du péricarde peuvent apporter un bénéfice clinique
et se traduire par un meilleur pronostic dans les cas de nanisme Mulibrey.
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References
- Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction.Lancet. 1973; 2: 351-355
- Gene encoding a new RING-B-box-Coiled-coil protein is mutated in Mulibrey nanism.Nat Genet. 2000; 25: 298-301
- Mulibrey nanism: clinical features and diagnostic criteria.J Med Genet. 2004; 41: 92-98
- Mulibrey heart disease. Clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985.Circulation. 2003; 107: 2810-2815
Article info
Publication history
Published online: February 13, 2018
Accepted:
February 9,
2018
Received:
June 20,
2017
Footnotes
See page 690.e8 for disclosure information.
Identification
Copyright
© 2018 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
