The Relationship Between Brain MRI Phenotypes, Genes and Cognitive Outcome in CHD Adults

Exploring the Relationship Between Advanced Multimodal Brain MRI Phenotypes, Genes and Cognitive Outcome in Adults With CHD

The main purpose of this proposal is to perform novel MRI analyses to determine the brain organizational changes associated with altered executive function and the modulating role of variants in neuroresilience and hypoxia response genes in adults with d-transposition of the great arteries (d-TGA).

Aim 1 is structured to determine the relationship between sulcal patterns(measured by MRI) and executive function in adults with d-TGA and if this relationship is modified by (a) presence of neuroresilience gene ApoE ε2 or ε4 alleles, or (b) damaging variants in hypoxia response genes.

Aim 2 is designed to determine the relationship between structural connectivity using rich club (measured by MRI) and executive function in adults with d-TGA and if this relationship is modified by (a) presence of neuroresilience gene ApoE ε2 or ε4 alleles or (b) damaging variants in hypoxia response genes.

In Aim 3, the investigators will determine the relationship between functional connectivity using rich club (measured by MRI) and executive function in adults with d-TGA and if this relationship is modified by (a) presence of neuroresilience gene ApoE ε2or ε4 alleles or (b) damaging variants in hypoxia response genes.

Inclusion Criteria:

• Persons who participated in the Boston circulatory arrest, pH and Hematocrit studies at Boston Childrens Hospital as children (n~300).
• Normally-developed age- and sex-matched young adults who are able to provide informed consent to undergo the MRI portion of the study and limited neuropsychological evaluation (IQ assessment as well as neuropsychological tests for which normative references are not available).

Exclusion Criteria:

• For controls - inability to complete the MRI (implanted metal, claustrophobia, personal history of mental illness, brain injury, prior brain intervention).
• Intellectual impairment precluding completion of the study questionnaires independently
• Unable to speak and read English fluently