ACHA Research Update: Fontan-Associated Liver Disease

Posted Thursday, Mar 28, 2024

ACHA has been advancing research for adult congenital heart disease (ACHD) patients since the ACHA Research Program started in 2019. ACHA is the only national nonprofit organization focusing solely on research for adult CHD patients now and in the future. The researchers who were awarded research grants through the ACHA Research Program are hoping to improve the landscape of treatment options, innovative surgery/intervention options, medications, and overall neurocognitive health of all ACHD patients.

ACHA has awarded grants in three main categories: neurocognitive research, pulmonary vascular research and general research focused on ACHD. Throughout 2024, we will be spotlighting researchers and the research that has been conducted since 2019 so that we can continue to share the results that directly affect those with ACHD.

In this update, we are highlighting Katia Bravo-Jaimes, MD, a 2021 research grant recipient from the Ahmanson/UCLA Adult Congenital Heart Disease Center in Los Angeles, CA, and her study, “Intrahepatic Transcriptomics Discriminate Advanced Fibrosis in Patients with the Fontan Circulation.”

As Dr. Bravo-Jaimes shared, “In this study we identified the molecular pathways related to having advanced liver stiffening and clinical complications in adults with the Fontan circulation. These pathways were related to inflammation, congestion, and vessel formation.” Dr. Bravo-Jaimes is currently practicing at the Mayo Clinic Jacksonville Adult Congenital Heart Disease Clinic.

Congratulations to Dr. Bravo-Jaimes and her team on the recent publication of her study in the Journal of the American College of Cardiology. Click here to review the abstract.

For more on the study, here are thoughts from some of Dr. Bravo-Jaimes’ co-authors:

Fady M. Kaldas, MD
“This one of the first of its kind studies looking to understand the damage incurred by the liver over time in patients with failing Fontan physiology. We see that on the genetic level there is an increase in gene activity related to congestion, inflammation and formation of new blood vessels within the liver as it attempts to find other ways to shunt blood.

We see this work as a crucial first step in understanding how this disease process in the liver evolves, in hope of informing our ability to care for patients, and know who should and shouldn’t receive a combined heart-liver transplant. We also need to learn more about the propensity of these patients to recover their liver disease after an isolated heart transplant or continue to advance their liver disease or develop liver cancer.”

Leigh Reardon, MD
“As a congenital and transplant specialist, I am always striving to help patients make the best decisions for their health care with the best information and experience I can provide. ACHD patients with the Fontan operation have many challenges because the very nature of this surgery places a lot of stress on the liver, kidneys, and intestine from the moment the surgery is completed as early as 2-3 years of life. The puzzling thing is that some patients tolerate this stress better than others – specifically, we are not always certain why some people develop advanced Fontan associated liver disease (referred to as FALD) much faster than others. Additionally, when we consider patients with a Fontan for transplant, there is a lot of debate surrounding the difficult choice of recommending a heart or a heart and liver transplant. Currently we use liver biopsies, lab values, cardiac cath data and clinical signs to make the best recommendation possible.

The hope from this study is to develop a better understanding of the molecular pathways that are activated when a Fontan surgery is performed and use it as a springboard to learn more. The ultimate hope is that one day we will better understand how and why the liver responds to the stress of the Fontan circulation so that we can develop strategies to protect the liver. Furthermore, a better understanding of the molecular activities of the liver may help guide congenital and transplant specialists in making the very difficult decision of a heart versus heart liver transplant. Dr. Bravo is to be commended for her inspirational vision and for pushing our understanding of FALD forward in this important collaborative project.”

Jamil A. Aboulhosn, MD
“The Fontan operation can be a lifesaving and life-prolonging procedure for patients with single ventricle physiology, but over time does take a toll on multiple organs, including the liver which is chronically exposed to high pressure within the Fontan circuit. Hence, we have seen that increasing numbers of patients are requiring heart and liver transplants as they age. This work helps us understand the molecular basis behind Fontan associated liver disease (FALD) and will hopefully lead to a more refined approach to the diagnosis and treatment of FALD.”


Research projects like this are only made possible by our Research Fund donors. To learn more about how you can support our Research Program, click here.

Thank you to our generous donors and corporate funders who have already invested in ACHA’s Research Fund and our 2024 funding cycle including the Meil Family Foundation, Johnson & Johnson, Anne Stapleton Reilly, Brad’s Heart of a Jayhawk Research Fund, Dale Amorosia Heart Fund, Heithoff Charitable Fund, Jim Wong Memorial Fund, Joseph E. Hebert, and Susan Timmins.

Contact Congress Today

Demand better research, surveillance, and awareness of ACHD by calling on Congress to act now on the Congenital Heart Futures Reauthorization Act of 2024. Contact your elected officials today.