A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.

ABSTRACT: Background Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with CMA abnormalities have been inconsistent, which may complicate clinical interpretation of abnormal testing results and hinder a more complete understanding of genotype-phenotype relationships. Methods and Results Patients with CHD and abnormal clinical CMA were accrued from 9 pediatric cardiac centers. Highly detailed cardiac phenotypes were systematically classified and analyzed for their association with CMA abnormality. Hierarchical classification of each patient into 1 CHD category facilitated broad analyses. Inclusive classification allowing multiple CHD types per patient provided sensiti

SUBMITTER: Landis BJ 

PROVIDER: S-EPMC10547279 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature