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Pulmonary arterial hypertension associated with impaired lysosomal endothelin-1 degradation

Published online by Cambridge University Press:  09 June 2014

Sabine Recla ,
Andreas Hahn  and
Christian Apitz
Sabine Recla
Affiliation:
Pediatric Heart Centre, Justus-Liebig-University, Giessen, Germany
Andreas Hahn
Affiliation:
Pediatric Neurology, Justus-Liebig-University, Giessen, Germany
Christian Apitz*
Affiliation:
Pediatric Heart Centre, Justus-Liebig-University, Giessen, Germany
*
Correspondence to: Dr C. Apitz, Pediatric Heart Centre, University of Giessen, Feulgenstr. 12, D- 35385 Giessen, Germany. Tel: +49-64198543400; Fax: +49 64198543469; E-mail: Capitz@aol.com
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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.

Keywords

Pulmonary hypertensionendothelinpaediatric cardiologylysosomal storage disorder
Type
Brief Reports
Information
Cardiology in the Young , Volume 25 , Issue 4 , April 2015 , pp. 773 - 776
Copyright
© Cambridge University Press 2014 

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