Mulibrey Nanism in a 35 Year-Old Iranian Female with Constrictive Pericarditis
نویسندگان
چکیده
Mulibrey nanism is a rare autosomal recessive disorder characterized by severe growth retardation and pericardial constriction associated with muscle, liver, brain, and eye abnormalities. More than 80% of previously reported cases are Finnish. We report a 35-year-old Iranian female who presented with classic phenotypic features of Mulibrey nanism with symptomatic constrictive pericarditis and underwent pericardiectomy. Our case is one of the rare examples of Mulibrey nanism outside Finland that has been reported so far.
منابع مشابه
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome
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 symp...
متن کاملMulibrey Heart Disease
Background—Mulibrey nanism is a rare inherited disease characterized by growth failure and multiorgan manifestations, including constrictive pericarditis. Its long-term course, the results of pericardiectomy, and the details of myocardial involvement have not been reported previously. Methods and Results—We studied 49 patients (26 men) born before 1985 and followed for up to 25 years. By 1999, ...
متن کاملMulibrey heart disease: clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985.
BACKGROUND Mulibrey nanism is a rare inherited disease characterized by growth failure and multiorgan manifestations, including constrictive pericarditis. Its long-term course, the results of pericardiectomy, and the details of myocardial involvement have not been reported previously. METHODS AND RESULTS We studied 49 patients (26 men) born before 1985 and followed for up to 25 years. By 1999...
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Mulibrey nanism (MUL) is an autosomal recessive disorder that is enriched in the Finnish population. Variable degrees of pericardial and myocardial involvement can lead to heart failure and premature death. The purpose of this study was using magnetic resonance imaging (MRI) to assess structural and functional abnormalities of the MUL cardiopathy in all four cardiac chambers as well as in the p...
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