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Cardiol Young. 2015 Apr;25(4):773-6. doi: 10.1017/S1047951114000997. Epub 2014 Jun 9.

Pulmonary arterial hypertension associated with impaired lysosomal endothelin-1 degradation.

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  • 11Pediatric Heart Centre,Justus-Liebig-University,Giessen,Germany.
  • 22Pediatric Neurology,Justus-Liebig-University,Giessen,Germany.


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.


lysosomal storage disorder

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