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

Boston Children's Hospital

Status

Enrolling

Conditions

Congenital Heart Disease

Treatments

Diagnostic Test: MRI

Study type

Interventional

Funder types

Other

Identifiers

NCT05258981

P00039087

Details and patient eligibility

About

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).

Full description

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.

Enrollment

225 estimated patients

Sex

All

Ages

24 to 35 years old

Volunteers

Accepts Healthy Volunteers

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