Abstract 9074: Cardiovascular Phenotypes Profiling for Congenitally Corrected Transposition of the Great Arteries and Its Prognosis Implication

Abstract

Introduction: Congenitally corrected transposition of the great arteries (ccTGA) is a rare and complex congenital heart disease with the characteristics of double discordance. Enormous accompanied anomalies are the culprit of difficult prognosis evaluation and clinical decisions. Hypothesis: To delineate a novel ccTGA clustering modality under HPO instruction and elucidate the relationship between phenotypes and prognosis in ccTGA patients. Methods: A retrospective review of 270 patients diagnosed with ccTGA in Fuwai hospital from 2009 to 2020 and cross-sectional follow-up was performed. Human Phenotype Ontology (HPO)-instructed clustering method was administered in ccTGA classification. Kaplan-Meier survival, Landmark analysis, and cox regression analysis were used to investigate the difference of outcomes between clusters with the combination of surgeries. Results: The median follow-up time was 4.29 (2.07-7.37) years. A total of three distinct phenotypic clusters were obtained after HPO-instructed classification with 21 in cluster 1, 136 in cluster 2, and 113 in cluster 3. Landmark analysis revealed significantly worse mid-term outcomes in all-cause mortality (p=0.042) and composite endpoints (p=0.008) of cluster 3 in comparison with cluster 1 and cluster 2. Multivariate analysis indicated that pulmonary arterial hypertension (PAH), atrioventricular septal defect (AVSD), and arrhythmia were risk factors for composite endpoints. Moreover, the surgical treatment was significantly different among the three groups (p<0.001) and surgical strategies had different effects on the prognosis of the different phenotypic clusters. Conclusions: HPO-instructed clustering method delineates a novel image of ccTGA classification that might improve prognosis prediction and clinical decision.