Journal article

Publication year: 2015

Pages: 773-776

Journal: Cardiology in the Young

Volume number: 25

Issue number: 4

ISSN: 1047-9511

eISSN: 1467-1107

DOI Link: https://doi.org/10.1017/S1047951114000997

Publisher: Cambridge University Press

Abstract: 
We report on a boy with severe pulmonary arterial hypertension associated with mucolipidosis, a rare lysosomal storage disorder. During diagnostic catheterisation, we found increased endothelin-1 levels, but normal big endothelin-1-levels (the precursor form of endothelin-1), which suggests impaired degradation of endothelin-1 rather than increased synthesis. As endothelin-1 degradation takes place in the lysosome, it appears likely that lysosomal dysfunction caused by the underlying disease contributes to the development of pulmonary arterial hypertension in this patient.

Harvard Citation style: Recla, S., Hahn, A. and Apitz, C. (2015) Pulmonary arterial hypertension associated with impaired lysosomal endothelin-1 degradation, Cardiology in the Young, 25(4), pp. 773-776. https://doi.org/10.1017/S1047951114000997

APA Citation style: Recla, S., Hahn, A., & Apitz, C. (2015). Pulmonary arterial hypertension associated with impaired lysosomal endothelin-1 degradation. Cardiology in the Young. 25(4), 773-776. https://doi.org/10.1017/S1047951114000997