Author/Authors :
Ayyıldız, Zeynep Arıkan Hacettepe University - Faculty of Medicine - Department of Pediatric Gastroenterology, Hepatology and Nutrition, Turkey , Alehan, Dursun Hacettepe University - Faculty of Medicine - Department of Pediatrics Cardiology, Turkey , Uslu, Nuray Hacettepe University - Faculty of Medicine - Department of Pediatric Gastroenterology, Hepatology and Nutrition, Turkey , Yüce, Aysel Hacettepe University - Faculty of Medicine - Department of Pediatric Gastroenterology, Hepatology and Nutrition, Turkey , Gürakan, Figen Hacettepe University - Faculty of Medicine - Department of Pediatric Gastroenterology, Hepatology and Nutrition, Turkey
Abstract :
Cardiac involvement is rare in Gaucher disease and may be in the form of pulmonary hypertension, constrictive pericarditis, pericardial calcifications, various valvular lesions and infiltration of the myocardium. Pulmonary hypertension in Gaucher disease is not common but it is shown to be secondary to interstitial or perivascular infiltration of Gaucher cells or primary in patients exposed to enzyme replacement therapy (ERT). Valvular lesions are seen as calcifications of aortic and mitral valves and these are mainly reported in patients with D409H homozygosity (1).
