Journal of Pediatric Cardiology and Cardiac Surgery

Online ISSN: 2433-1783 Print ISSN: 2433-2720
Japanese Society of Pediatric Cardiology and Cardiac Surgery
Japanese Society of Pediatric Cardiology and Cardiac Surgery Academy Center, 358-5 Yamabuki-cho, Shinju-ku, Tokyo 162-0801, Japan
Journal of Pediatric Cardiology and Cardiac Surgery 4(1): 9-13 (2020)

Case ReportCase Report

A Case of Spontaneously Improved Heritable Pulmonary Arterial Hypertension Diagnosed as Severe Primary Pulmonary Hypertension in Childhood

1Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center ◇ Osaka, Japan

2Department of Medical Genetics, Sakakibara Heart Institute ◇ Tokyo, Japan

3Division of Molecular Pathology, the Institute of Medical Science, The University of Tokyo ◇ Tokyo, Japan

受付日:2019年3月25日Received: March 25, 2019
受理日:2019年11月20日Accepted: November 20, 2019
発行日:2020年3月1日Published: March 1, 2020

A six-year-old boy was admitted to our institute because of syncope and exercise intolerance. Cardiac catheterization revealed elevated pulmonary arterial pressure of 89/35(65) mmHg and elevated pulmonary vascular resistance index of 14.4 Woods units·m2. We diagnosed severe primary pulmonary hypertension with right heart failure. Since no effective therapy for pulmonary hypertension was established then, we could not treat him effectively. However, his trans-tricuspid pressure gradient on echocardiogram gradually decreased without therapy and he became asymptomatic when he reached junior high school. He did not visit our outpatient clinic after he started college because of commitments at work. When admitted to our hospital at the age of 28, cardiac catheterization showed that his pulmonary arterial pressure and pulmonary vascular resistance index had decreased to 50/18(32) mmHg and 7.8 Woods units·m2, respectively. He had frequent nasal bleeding and we found one telangiectasia spot on his foot. His genetic analysis revealed an ALK-1 mutation and he was diagnosed with heritable pulmonary arterial hypertension. Pediatric heritable pulmonary arterial hypertension with ALK-1 mutation is usually progressive and has poor prognosis. However, this may not be always true, as demonstrated by our case.

Key words: pediatric pulmonary arterial hypertension; heritable pulmonary arterial hypertension; ALK-1; hereditary hemorrhagic telangiectasia

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