ACE2 gene polymorphisms are associated with elevated pulmonary artery pressure in congenital heart diseases.

BACKGROUNDS: Angiotensin converting enzyme 2 (ACE2) polymorphisms are related to the occurrence and prognosis of cardiovascular disease. However, whether ACE2 polymorphisms also affect pulmonary circulation in congenital heart disease (CHD) remains unclear. Thus, we investigated the relationship between ACE2 single nucleotide polymorphism (SNPs) and pulmonary circulation in CHD patients of Chinese Han ethnicity. METHODS: Enrolled CHD patients (n = 367) underwent gene sequencing of ACE2 SNPs rs2074192, rs2285666, and rs2106809. Patients with pulmonary hypertension were further examined for detailed hemodynamics. RESULTS: Female heterozygous patients had worse pulmonary circulation hemodynamic parameters compared to those of homozygotes. Female CHD patients with the CCA (OR = 0.53, 95% CI: 0.32-0.88) or CCG (OR = 0.59, 95% CI: 0.35-0.99) haplotype had a lower risk of elevated pulmonary artery pressure. CONCLUSION: In female CHD patients, ACE2 SNPs are related to pulmonary circulation hemodynamics. Female CHD patients with the CCA and CCG haplotype had a lower risk of pulmonary hypertension.

Model for screening adult congenital heart disease surgery eligibility with echocardiography parameters.

OBJECTIVES: This study aimed to screen for the eligibility of correction in cases of adult congenital heart disease (CHD). Pulmonary to systemic flow ratios (Qp/Qs) > 1.5 and pulmonary to systemic vascular resistance ratios (Rp/Rs) < 1/3, acquired by right heart catheterization (RHC), are two essential parameters. Nonetheless, performing RHC at every follow-up is impractical and even harmful. Thus, it is important to establish a model to predict Qp/Qs and Rp/Rs status before a RHC confirmation, using echocardiography parameters. METHODS: A total of 1,785 patients with adult CHD were enrolled and randomly assigned to the derivation or validation groups. Echocardiogram parameters of the 974 patients in the derivation group were considered candidate predictors for surgery eligibility (Qp/Qs > 1.5 and Rp/Rs < 1/3). Binary logistic regression analyses were performed to identify the independent predictors and establish a scoring system. The scoring system was further examined in the validation group using a receiver operating characteristic (ROC) analysis. RESULTS: Estimated pulmonary artery systolic pressure, velocity through the pulmonary valve, and diameters of the left and right atria were identified as independent predictors. The area under the ROC curve of the predictive value in the validation group and its pre- and post-tricuspid valve malformation subgroups were 0.87 (95% confidence interval [CI]: 0.84-0.90, p < 0.01), 0.86 (95% CI: 0.82-0.91, p < 0.01), and 0.85 (95% CI: 0.79-0.90, p < 0.01), respectively. CONCLUSIONS: This scoring system could augment flexibility and convenience for pre-screening CHD patients' eligibility for surgery, before RHC.