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Pulmonary Arterial Hypertension in Patients with Congenital Heart Disease and Heterotaxy/polysplenia Syndrome

Akimichi Shibata

Jun Maeda

Hiroyuki Yamagishi

Kousei Araki

Reina Ishizaki

Takayuki Oyanagi

Hiroyuki Fukushima


Naofumi Sumitomo

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Conference: 2014 International PHA Conference and Scientific Sessions

Release Date: 06.21.2014

Presentation Type: Abstracts

File Download: 2014 Conference Abstract - Akimichi S.

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Early progressive pulmonary arterial hypertension (PAH) is often observed in patients with heterotaxy/polysplenia especially who have an intracardiac systemic-to-pulmonary shunt. However, its etiology is uncertain and its managements is not established.

Background: Early progressive pulmonary arterial hypertension (PAH) is often observed in patients with heterotaxy/polysplenia especially who have an intracardiac systemic-to-pulmonary shunt. However, its etiology is uncertain and its managements is not established.

Methods and Results: We report and review 6 heterotaxy/polysplenia patients who diagnosed as PAH at Keio university hospital, Tokyo, Japan, between 1978 and 2013. All patients diagnosed as polysplenia had interruption of the inferior vena cava with azygous continuation. They complicated not only PAH, but also congenital heart disease (CHD) accompanied by heterotaxy syndrome. There were three patients with incomplete atrioventricular septal defect (AVSD) and three patients with atrial septal defect (ASD), including single atrium (SA). No patient was diagnosed as having congenital extrahepatic portosystemic shunt, even two of them were investigated minutely. Two patients with incomplete AVSD died at 6 months and 29 months of their life for progressive PAH and sudden cardiopulmonary arrest at home, respectively. Among 6 patients, 5 patients were performed surgical repair on CHD, and one died 25 months after surgery, whereas remainder one patient could not proceed to surgical repair because of high pulmonary vascular resistance. All 6 patients developed PAH earlier than commonly expected (median: 5 months of age). As for medical treatment, 5 of 6 patients were treated with vasodilators including prostanoids (PGI2), phosphodiesterase5 inhibitor (PDE5-I), endothelin receptor antagonist (ERA) or home oxygen therapy. Two of 5 patients treated with multiple vasodilators resulted in successful improvement of PAH. One treated with combination of three vasodilators had improvement of PAH, which resulted in successful surgical repair of SA. Another treated with NO donor after surgical repair of SA, VSD and partial anomalous pulmonary venous return had improvement of PAH by additional vasodilator, ERA.

Conclusions: PAH is a major manifestation of patients with heterotaxy/polysplenia syndrome whose etiology is yet obscure. Vasodilators including ERA, PDE5-I and PGI2 may be effective for PAH in patients with heterotaxy/polysplenia, at least partially, and these would be indispensable pre-therapy for successful surgical repair, so called “treat and repair approach.”

Type: Case Study