Mulibrey Heart Disease

Mulibrey 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...

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...

Report of two Syrian siblings with Mulibrey nanism

Mulibrey (MUscle-LIver-BRain-EYe) nanism is a rare autosomal recessive disease characterized by growth failure, dysmorphic features and a wide range of abnormalities affecting multiple organ systems. This report is the first to present two cases of Mulibrey nanism affecting two siblings from Syria. Mulibrey nanism can be suspected clinically due to the distinctive features of the patients. The ...

ASSESSMENT OF CARDIAC FUNCTION WITH MAGNETIC RESONANCE IMAGING AND A THREE-DIMENSIONAL SEGMENTATION METHOD Description of Mulibrey nanism cardiopathy and effects of endurance training on cardiac function

A stone was lifted from her heart: pericardial constriction in 28-year-old patient with Mulibrey nanism.

MuLiBrEy nanism (also known as Perheentupa syndrome) is an autosomal recessive congenital disorder. A patient with Perheentupa syndrome has growth retardation and multiple organ manifestations in muscles, liver, brain, and eyes. Over 80% of patients are Finnish. A regular component of this syndrome is pericardial constriction. A 28-year-old patient was firstly diagnosed with an ovarian tumour. ...