Chest
Volume 65, Issue 6, June 1974, Pages 628-631
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CLINICAL INVESTIGATIONS
The Cardiopathy of Mulibrey Nanism, a New Inherited Syndrome

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We report 24 cases of a new, probably autosomal recessive syndrome, mulibrey nanism. All patients had severe growth retardation and characteristic changes in tissues of mesodermal origin. Cardiovascular symptoms suggestive of pericardial constriction were prognostically most important. Two patients died with signs of cardiac failure. In both, postmortem examination showed a thickened and adherent pericardium as well as pathologic changes in the myocardium. The condition of four severely affected patients improved after pericardiectomy. The clinical and hemodynamic findings suggested similar affection of the pericardium in the other cases.

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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)

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Cited by (17)

  • Pericardial Constriction and Myocardial Restriction in Pediatric Mulibrey Nanism: A Complex Disease With Diastolic Dysfunction

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    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.

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