Chest
CLINICAL INVESTIGATIONSThe Cardiopathy of Mulibrey Nanism, a New Inherited Syndrome
Section snippets
Case Reports
We have personally examined 23 of the patients and have complete clinical and autopsy documents of the remaining one. There were 12 males and 12 females. The youngest was 4 months old when first seen and the oldest is now 26 years old. Two have died, at the age of 1.4 and 10 years.
The general appearance is rather characteristic: the face is triangular with bulging forehead and low nasal bridge, and the extremities are gracile and relatively short. Two infants are depicted in Figure 1. The other
Comment
There is no clinical or laboratory evidence of infectious etiology of the pericardial constriction. We believe that the pericardial changes are a component of the syndrome of mulibrey nanism and are probably determined by a mutant gene.
Pericardial constriction is a relatively uncommon disease in adults and rare in children. Tuberculosis is considered the most common etiologic factor,3 but constrictive pericarditis has developed after acute viral pericarditis,4 traumatic5 or uremic6
References (7)
- et al.
Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction
Lancet
(1973) - et al.
Rapidly developing pericardial constriction in childhood following acute nonspecific pericarditis
Am J Cardiol
(1965) - et al.
Chronic constrictive pericarditis following uremic hemopericardium
Am Heart J
(1970)
Cited by (17)
Pericardial Constriction and Myocardial Restriction in Pediatric Mulibrey Nanism: A Complex Disease With Diastolic Dysfunction
2022, CJC OpenCitation Excerpt :Taken together, our findings are consistent with significant pericardial constriction-related diastolic dysfunction in MUL disease. Although previous autopsy studies report pericardial fibrosis with adhesions between the pericardial layers, visceral pericardium adhering to the epicardium, as well as scattered large calcific plaques occasionally penetrating into the myocardium in MUL patients,3,20 we were unable to show pericardial thickening on echocardiography. Furthermore, a clearly thickened pericardium was described in the surgical notes for only 3 of 6 MUL patients, suggesting a significant variance in pericardial thickness in MUL disease.
Plain-film diagnosis of pericardial disease
1999, Seminars in RoentgenologyVascular structure and stiffness in pediatric Mulibrey nanism using ultra-high frequency ultrasound
2023, Veins and LymphaticsRestriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism
2020, Pediatric PulmonologyNew intragenic rearrangements in non-Finnish mulibrey nanism
2017, American Journal of Medical Genetics, Part A