Mulibrey nanism (MUL) is a rare autosomal recessive disorder with severe 
primordial growth retardation and multiorgan involvement, caused by mutations in 
TRIM37. Early clinical detection is important since more than 50 % of the 
patients develop congestive heart failure. We report a 12-year-old patient who 
presented in infancy with severe growth retardation, dysmorphic features, and 
cleft palate. Clinical diagnosis of MUL was established at the age of 5 years. 
Postmortem, molecular diagnostic confirmed MUL as a novel 1-bp deletion 
(c.1233delA) in exon 14 of the TRIM37 coding region. Cardiac examination at the 
age of 6 years revealed constrictive pericarditis with significant elevation of 
atrial filling pressures, consecutive hepatomegaly, and protein loosing 
enteropathy. Since the parents refused pericardectomy, surgery was delayed until 
the age of 12 years, when congestive heart failure deteriorated. Despite 
pericardectomy, the boy died from persistent right heart failure.
CONCLUSION: Our report underlines the necessity of early clinical diagnosis of 
Mulibrey nanism. Careful cardiologic examination is required to detect 
constrictive pericarditis, which is a major factor of mortality in these 
patients. Pericardectomy should be performed early, to avoid sequelae of 
persisting congestive heart failure.