Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries.

Abstract excerpt

Two sisters with type B Niemann-Pick disease (genotype: S436R/S436R) showed cardiac dysfunctions, not secondary to pulmonary disease, at the beginning of the third decade. In the younger sister, myocardial dysfunction was refractory to treatment, resulting in death. At autopsy, the distal branches of the coronary arteries showed narrowing of the arterial lumina due to swelling of the medial and intimal...

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