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


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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Correspondence to T. Takahashi.

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Communicating editor: Guy Besley

Competing interests: None declared

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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).

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  • Public Health
  • Coronary Artery
  • Internal Medicine
  • Metabolic Disease
  • Pulmonary Disease