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An ontology-based classification of Ebstein's anomaly and its implications in clinical adverse outcomes
Xia Tang1, Wen Chen2, Ziyi Zeng2
1Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, Henan Key Laboratory of Genetic Diseases and Functional Genomics, Henan Provincial People's Hospital of Henan University, People's Hospital of Zhengzhou University, Zhengzhou, Henan Province 450003, China; NHC Key Laboratory of Birth Defect Prevention, Zhengzhou, Henan Province 450003, China.
Background:
Ebstein's anomaly (EA) is a rare congenital heart disease with significantly phenotypic heterogeneity, accompanied with multiple associated phenotypes. The classification of cases with EA based on a standardized vocabulary of phenotypic abnormalities from Human Phenotype Ontology (HPO) and its association with adverse clinical outcomes has yet to be investigated.
Methods:
We developed a deep phenotyping algorithm for Chinese electronic medical records (EMRs) from the Fuwai Hospital to ascertain EA cases. EA-associated phenotypes were standardized according to HPO annotation, and an unsupervised hierarchical cluster analysis was used to classify EA cases according to their phenotypic similarities. A survival analysis was conducted to study the association of the HPO-based cluster with survival or adverse clinical outcomes.
Results:
The ascertained EA cases were annotated to have a single or multiple HPO terms. Three distinct clusters with different combinations of HPO term in these cases were identified. The HPO-based classification of EA cases was not significantly associated with survival or adverse clinical outcomes at a mid-term follow-up.
Conclusions:
Our study provided an important implication for studying the classification of congenital heart disease using HPO-based annotation. A long time follow-up will enable to confirm its association with adverse clinical outcomes.
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