Rui Jiang1,3,*, Kaisheng Lai2, Jianping Xu1, Xiang Feng1, Shaoye Wang1, Xiaojian Wang3, Zhe Liu2
Congenital Heart Disease, Vol.17, No.6, pp. 675-686, 2022, DOI:10.32604/chd.2022.021626
Abstract Background: The etiology of pulmonary arterial hypertension associated with congenital heart disease (PAHCHD) is complicated and the phenotype is heterogeneous. Genetic defects of NOTCH3 were associated with
cerebral disease and pulmonary hypertension. However, the relationship between NOTCH3 mutations and the
clinical phenotype has not been reported in CHD-PAH. Methods: We eventually enrolled 142 PAH-CHD patients
from Fuwai Hospital. Whole exome sequencing (WES) was performed to screen the rare deleterious variants of
NOTCH3 gene. Results: This PAH-CHD cohort included 43 (30.3%) men and 99 (69.7%) women with the mean
age 29.8 ± 10.9 years old. The pathogenic or likely pathogenic mutations… More >
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