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Abstract: SA-PO540

Genomic Sequencing Is Associated With a High Diagnostic Yield in Hospitalized Children With Both Congenital Heart Defects and Congenital Anomalies of the Kidney and Urinary Tract System

Session Information

  • Genetic Diseases: Diagnosis
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

  • 1102 Genetic Diseases of the Kidneys: Non-Cystic


  • Allred, Erika, University of California San Diego, La Jolla, California, United States
  • Perens, Elliot, University of California San Diego, La Jolla, California, United States

Congenital heart defects (CHD) and congenital anomalies of the kidney and urinary tract (CAKUT) account for significant morbidity and mortality in childhood. Dozens of monogenic causes of anomalies in each organ system have been identified. However, even though 30% of CHD patients (pts) also have a CAKUT and both organs arise from the lateral mesoderm, there is sparse overlap of the genes implicated in the congenital anomalies of each organ system. We sought to determine whether pts with both CAKUT and CHD have a monogenic etiology, with the long term goal of guiding future diagnostic work up and improving outcomes.


Retrospective review identifying patients with both CAKUT and CHD and either whole genome sequencing or whole exome sequencing, admitted to Rady Children’s Hospital between January 2015 and July 2020. Demographic information, presenting phenotype, and genetic results were collected, along with the mother’s pregnancy history. WGS results were reanalyzed using the CAKUT and CHD phenotype as a primary filter. Genetic results were reviewed to identify causative, candidate, and novel genes for the CAKUT and CHD phenotype. Associated additional structural malformations were identified and categorized.


32 patients were identified. 8 patients had causative variants, 3 patients had candidate variants, and 3 patients had potential novel variants. 5 patients had variants in genes not associated with the CAKUT/CHD phenotype, and 13 patients had no variant identified. Of these, 8 patients were identified as having possible alternative causes for their CHD/CAKUT phenotype. 88% of all CAKUT/CHD patients had at least one additional organ system with a structural malformation.


Overall, our study demonstrated a high rate of monogenic etiologies in hospitalized pts with both CHD and CAKUT, with a diagnositc rate of 44%. Thus, physicians should have a high suspicion for genetic disease in this population. Together, these data provide valuable information on how to approach acutely ill pts with CAKUT and CHD, including guiding diagnostic work up for associated phenotypes, as well as novel insights into the genetics of CAKUT and CHD overlap syndromes in hospitalized children.


  • NIDDK Support