P240: Burden of ciliopathy variants in single ventricle physiology heterotaxy patients

Genetics in Medicine Open 2026 Open access

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Authors: Gabrielle C. Geddes, Aoy Tomita‐Mitchell, Karl Stamm, Kathleen A. Mussatto, Cassandra Chiao, Rene Oakford Harrell
DOI: 10.1016/j.gimo.2026.103734
Cited by: 0

Abstract

Heterotaxy has been associated with a broad range of ciliopathies. Congenital heart disease (CHD) has also been associated with ciliopathies, independent of if heterotaxy is present, and ciliary dysfunction is known to affect outcomes. Diagnosing ciliary dysfunction is complex and molecular methods that could risk stratify children could allow for earlier intervention.

Fields of Study & Subjects

Cystic Fibrosis Research Advances Genetic and Kidney Cyst Diseases Congenital Heart Disease Studies

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103734–103734
Publication date
1 January 2026
Language
EN