for people ages 8 years and up (full criteria)
at San Francisco, California and other locations
study started
estimated completion
Principal Investigator
Patrick McQuillen, MD
Photo of Patrick McQuillen
Patrick McQuillen



Approximately 400 Congenital heart disease patients will participate in the research study which will include one or more research visits for neurodevelopmental testing, brain MRI, and collection of medical history including previously collected genetic sequencing results. The investigators will explore the association between genetic variants, neurodevelopmental deficits, and brain MRI endophenotype. Analyses will compare groups with and without deleterious de novo mutations.

Official Title

Genomic Basis of Neurodevelopmental and Brain Outcomes in Congenital Heart Disease


Heart Disease Congenital Heart Diseases Exposure of interest: Brain MRI Exposure of interest: neurodevelopmental assessments


You can join if…

Open to people ages 8 years and up

  1. Subjects in whom whole exome sequencing or whole genome sequencing has already been performed, either during the CHD GENES study or, for new centers (Utah or USCF/Stanford), after trios in existing biobanks undergo analysis by whole exome sequencing or whole genome sequencing during the Pediatric Cardiac Genomic Consortium 2 grant cycle
  2. Presence of deleterious mutations (damaging de novo mutations or stringently defined deleterious missense mutations) identified on sequencing (Cases) OR absence of such known deleterious mutations (Controls)
  3. Males or females, age ≥8 years
  4. Diagnosis of congenital heart disease
  5. Informed consent obtained

You CAN'T join if...

  1. History of cardiac transplant
  2. A cardiac surgical procedure within 6 months of enrollment
  3. Known clinical genetic syndrome, characterized as a monogenic condition with an identified gene associated with abnormalities of the brain structure or function, structural heart disease, and potentially other associated features.
  4. Presence of CNV known to be clinically pathogenic. Variants will be classified as pathogenic using accepted types of variant evidence (e.g., population data, computational data, functional data, segregation data) as detailed in the American College of Medical Genetics and Genomics " Standards and Guidelines for the interpretation of sequence variants" (Richards et al, GIM 2015).
  5. Overwhelming acquired brain injury, such as a major stroke or severe ischemic injury, that would overshadow the effect of a genetic mutation on outcome in the opinion of the center investigator
  6. Lack of reading fluency in English or Spanish


  • University of California, San Francisco not yet accepting patients
    San Francisco California 94158 United States
  • Children's Hospital Los Angeles not yet accepting patients
    Los Angeles California 90027 United States

Lead Scientist at UCSF


accepting new patients
Start Date
Completion Date
Children's Hospital Medical Center, Cincinnati
Related Info
Study Type
Last Updated