A child with hereditary pulmonary arterial hypertension caused by BMPR2 gene mutation and genetic familial study
10.3760/cma.j.cn114798-20240925-00773
- VernacularTitle:BMPR2基因突变所致遗传性肺动脉高压一家系调查
- Author:
Tao SHU
1
;
Xiaojian WANG
;
Gangyi CHENG
;
Qu CHEN
;
Yan GE
;
Lianfeng LIN
;
Zhonggui SHAN
Author Information
1. 厦门大学附属第一医院心血管外科 厦门市心血管病研究所，厦门 361001
- Publication Type:Journal Article
- Keywords:
Hypertension, pulmonary;
Heredity;
Child;
BMPR2 gene mutation
- From:
Chinese Journal of General Practitioners
2025;24(3):315-318
- CountryChina
- Language:Chinese
-
Abstract:
A child aged 5 years with pulmonary arterial hypertension was admitted to the First Affiliated Hospital of Xiamen University in December 2017. A truncated mutation in the bone morphogenetic protein receptor 2 (BMPR2) gene [Chr2(GRCh37):g.203395656delA] was detected, which might be responsible for the disease and the diagnosis of hereditary pulmonary arterial hypertension (HPAH) was confirmed. Genetic testing revealed that the child′s father also carried the same mutation in BMPR2 gene, but no gene mutation was detected in child′s mother and young brother; however, no HPAH was developed in child′s father and other family members. The child was treated with targeted drugs for pulmonary arteries with poor response, and died in April 2019. Later, the child′s mother accidentally became pregnant. Gene sequencing test of the amniotic fluid showed that the fetus also carried the BMPR2 gene mutation; the pregnancy was terminated after genetic counseling. HPAH has the clinical characteristics of early onset, rapid progression, and poor prognosis, and the BMPR2 gene mutation is an important pathogenic factor. For HPAH patients with unknown etiology, particularly for pediatric patients, genetic testing is recommended to identify the cause and to make an appropriate clinical management plan.
