Summary
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 smooth-muscle cells. This is the first report describing characteristic findings of coronary arteries in type B Niemann–Pick disease.
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Communicating editor: Guy Besley
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Ishii, H., Takahashi, T., Toyono, M. et al. Acid sphingomyelinase deficiency: Cardiac dysfunction and characteristic findings of the coronary arteries. J Inherit Metab Dis 29, 232–234 (2006). https://doi.org/10.1007/s10545-006-0226-y
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DOI: https://doi.org/10.1007/s10545-006-0226-y