title: Heterotaxy syndrome with severe pulmonary hypertension in an adult.
abstract: Heterotaxy syndrome is a rare clinical entity in adults, characterized by situs ambiguus, congenital heart defects, and splenic malformations. We report the case of an adult with heterotaxy syndrome (including situs ambiguus, bilateral superior vena cava, hypoplastic right-sided spleen and portosystemic shunts) presenting with dyspnea due to severe pulmonary hypertension. Vasodilatory therapy was initiated, leading to marked reduction of clinical symptoms. This case exhibits 2 particular and partially novel features: primary diagnosis of heterotaxy syndrome may be delayed until adulthood, and heterotaxy syndrome may be associated with pulmonary hypertension, possibly on the basis of longstanding portosystemic shunts.
authors: Department of Nephrology, University Hospital, Aachen, Germany.
authors: Vincent M
authors: VM
authors: Brandenburg
authors: Stefan
authors: S
authors: Krueger
authors: Patrick
authors: P
authors: Haage
authors: Peter
authors: P
authors: Mertens
authors: Jochen
authors: J
authors: Riehl
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D006801:Humans; D006976:Hypertension, Pulmonary / Q000188:drug therapy / Q000209:etiology*; D008297:Male; D011168:Portal System / Q000002:abnormalities*; D013154:Spleen / Q000002:abnormalities*; D014683:Vena Cava, Superior / Q000002:abnormalities*