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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Bodzioch M, Orso E, Klucken J, et al (1999) The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nature Genetics 22: 347–351.
Haust MD (1992) Aortic features in Tangier disease and pathogenetic considerations – Part I. Fatty dots and streaks. Eur J Epidemiol 8(Supplement 1): 36–47.
Ishii I, Satoh H, Kawachi H, et al (2002) Intimal smooth muscle cells up-regulate β-very low density lipoprotein-mediated cholesterol accumulation by enhancing β-very low density lipoprotein uptake and decreasing cholesterol efflux. Biochim Biophys Acta 1585: 30–38.
Leventhal AR, Chen W, Tall AR, Tabas I (2001) Acid sphingomy-elinase-deficient macrophages have defective cholesterol trafficking and efflux. J Biol Chem 276: 44976–44983.
Lever AML, Ryder JB (1983) Cor pulmonale in an adult secondary to Niemann–Pick disease. Thorax 38: 873–874.
McGovern MM, Pohl-Worgall T, Deckelbaum RJ, et al (2004) Lipid abnormalities in children with types A and B Niemann–Pick disease. J Pediatr 145: 77–81.
Schuchman EH, Desnick RJ (2001) Niemann–Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet al, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn, Vol. 3. New York, McGraw-Hill, 3589–3610.
Takada G, Satoh W, Komatsu K, Konn Y, Miura Y, Uesaka Y (1987) Transitory type of sphingomyelinase deficient Niemann–Pick disease: clinical and morphological studies and follow-up of two sisters. Tohoku J Exp Med 153: 27–36.
Takahashi T, Desnick RJ, Takada G, Schuchman EH (1992) Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann–Pick disease. Hum Mutat 1: 70–71.
Wasserstein MP, Desnick RJ, Schuchman EH, et al (2004) The natural history of type B Niemann–Pick disease: results from a 10-year longitudinal study. Pediatrics 114: e672–e677.
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). https://doi.org/10.1007/s10545-006-0226-y
- Public Health
- Coronary Artery
- Internal Medicine
- Metabolic Disease
- Pulmonary Disease