---
title: Heart Defects Are Now an Adult Condition, and the Largest Genetic Study of Them Is Following Patients Into Adulthood
description: Fifteen years of sequencing explained about a quarter of previously unexplained heart defects. A $38.4 million renewal now follows those patients into adulthood.
author: Dr Marina Nani (Editor-in-Chief)
updated: 2026-08-01T09:24:10.057Z
canonical: https://richhealthmagazine.com/article/congenital-heart-defects-adult-genomics-cohort
image: https://cdn.nanimediahouse.com/congenital-heart-genomics-cohort-78250.webp
categories: Longevity & Science
content_type: News
region: United States
publication: Rich Health Magazine
schema_type: Article
---

For most of the history of pediatric cardiology, a congenital heart defect was a condition of childhood, because too few children survived it to be anything else. That is no longer true. Nearly 40,000 infants are born with a heart defect in the United States each year, it remains the most common major birth defect, and [adults now outnumber children among the more than 2.4 million Americans living with one](https://newsroom.heart.org/news/as-people-born-with-congenital-heart-defects-now-live-longer-challenges-evolve-over-time).

The national program that assembled the world's largest genomic collection of people born with heart defects spent fifteen years asking why those defects happen. It is now turning to the question its own success created: what happens to the people it enrolled, over the decades they now live.

Cincinnati Children's, which coordinates data and administration for the program, has received a six-year, $38.4 million renewal from the National Heart, Lung, and Blood Institute to run that next phase. The grant period runs from May 15, 2026 to April 30, 2032. It is the third cycle awarded to the coordinating center team, after earlier awards of $33.4 million and $21.4 million.

## A quarter of the unexplained cases now have a genetic answer

The work being extended began as the Congenital Heart Disease Genetic Network Study, designed by the Pediatric Cardiac Genomics Consortium to gather genetic and clinical data on a large group of people with heart defects. [The cohort described in the study's own published account was recruited through ten sites between 2010 and 2014](https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0191319), and researchers collected information on 9,727 cases and their parents through interviews and medical record abstraction, with the resulting sequence data deposited in the public dbGaP archive for other scientists to use.

Enrollment kept going. The study now holds more than 14,000 people with a heart defect and more than 18,000 family members, whole genome sequencing on more than 16,000 biosamples, and health record linkage for more than 11,000 participants. Out of that came a result the field did not have before: in about a quarter of cases that previously had no explanation at all, researchers identified a genetic cause.

For the majority of cases, no genetic cause has been identified, and closing that remainder is part of what the next phase is funded to pursue.

## The next phase follows patients instead of hunting genes

The renewed program is called B2B CHANGE, short for Congenital Heart disease Advancing New understanding in GEnomics, and it belongs to the National Institutes of Health's Bench to Bassinet Program. Where earlier cycles were built around enrollment and genetic discovery, this one re-engages a subset of the people already enrolled for long-term follow-up: deeper clinical assessments, patient-reported measures, and new biological samples collected as participants age.

The aim is to connect a genetic difference to what actually happens to the person carrying it, over years rather than at diagnosis.

"This renewal allows us to turn an extraordinary genetic discovery program into a deeper, longer-term resource for families, clinicians and researchers," says Nicholas Ollberding, contact principal investigator for the coordinating center at Cincinnati Children's. Connecting genomic information with clinical follow-up and new samples, Ollberding says, "can help answer the questions families care most about including why a heart defect happened and what it may mean for a child's health years later."

James Cnota, one of several principal investigators on the project, puts the clinical problem plainly. "Today, children with seemingly similar heart defects can have very different outcomes," Cnota says. Studying genetic variation alongside long-term clinical data, he says, "can help move the field toward more personalized monitoring and care."

Jessica Woo leads the part of the program responsible for recruiting that cohort and working with patient advocacy groups and members of the heart-defect community on how the study is designed. Michael Wagner, another of the principal investigators, is expanding the program's data infrastructure, folding new information into a data hub called HeartsMart and sharing it with the NHLBI's BioData Catalyst platform so researchers elsewhere can work with the resource.

## Fewer than 500 specialists treat the adults who survived

The patients this study will follow are aging into a thin specialist workforce. There are fewer than 500 board-certified specialists in adult congenital heart disease in the United States, and they sit mainly at specialty heart centers in large cities.

Anitha S. John, who chairs the American Heart Association's Council on Lifelong Congenital Heart Disease and Heart Health in the Young, has set out what that population needs. "It's important to note that the majority of patients, even those with complex congenital heart defects, survive to adulthood and will need specialty heart care throughout their lives," she says. "However, beyond health and medical issues, many people living with CHDs face other challenges, especially as they transition into adulthood." The association has published a series of scientific statements on those obstacles, covering psychological outcomes and the move from pediatric to adult care.

A child having surgery today, and the adult that child becomes, are currently seen by two different sets of clinicians, with no single dataset following the person across that transition. B2B CHANGE is designed to record what happens on both sides of it.

Families already in the program, and anyone wanting to know how it works, can find details at [benchtobassinet.com](https://benchtobassinet.com).

## FAQ

**Q: Do congenital heart defects run in families?**
Sometimes, and establishing when is part of what this research exists to do. The program enrolled more than 18,000 family members alongside the more than 14,000 people who have a heart defect, and it collected genetic data from both. That work has so far identified a genetic cause in about a quarter of cases that previously had none, which means no genetic explanation has yet been found for most cases.

**Q: Is there a cure for congenital heart disease?**
No. The American Heart Association describes it as a lifelong condition: the majority of patients, including those with complex defects, survive into adulthood and will need specialty heart care for the rest of their lives. Depending on the defect, treatment can involve surgery, catheter-based procedures, medication or long-term monitoring.