Heterotaxy Syndrome With Severe Pulmonary Hypertension
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.

Patients with heterotaxy syndrome (polysplenia-asplenia syndrome, also formerly known as Ivemark's syndrome) present with a rare anatomic phenotype, characterized by arrangement of the internal organs along the left-right body axis in neither normal (situs solitus) nor completely reversed (situs inversus viscerum) position. Various clinical manifestations, including congenital heart defects (CHD), altered lung lobulation, splenic malformations, and situs ambiguus, are observed. Due to complex cyanotic CHD, heterotaxy syndrome presents early in childhood in most affected individuals. We report the case of a 31-year-old patient in whom exercise-induced dyspnea due to severe primary pulmonary hypertension led to the diagnosis of heterotaxy syndrome unusually late in adulthood.