Progress in CHD Research

We will post updates on congenital heart related research here.

The American Heart Association held its annual Scientific Sessions in Orlando, FL from November 12-16. Several members of ACHA’s MAB presented research study results in the form of poster or oral presentations. Links to the study abstracts are below.

ACHA Member Abstract Presentations

Shock, Sexual Function and Implantable Cardioverter Defibrillators: An Evaluation of the Adult Congenital Community
Stephen Cook

C-Reactive Protein is Associated with Increased Left Atrial Size in Young Adults: The CARDIA Study
Elyse Foster

Prevalence and Predictors of Lapses in Care in Adults With Congenital Heart Disease (Health, Education And Access Research Trial, Heart-ACHD
Michelle Gurvitz

A Novel Thrombin Interacting Partner Emerges in Heart Failure
David Sahn

Clinical Outcomes and Improved Survival in Patients With Protein Losing Enteropathy After the Fontan Operation
Carole Warnes

Adult Congenital Heart Disease Centre Care: A Population Based Analysis of Impact on Mortality
Ariane Marelli

Ventricular Size and Function Measured by Cardiac MRI Improve Prediction of Major Adverse Clinical Outcomes Independent of Prolonged QRS Duration in Patients with Repaired Tetralogy of Fallot
Anne Marie Valente and Barbara Mulder

Psychosocial Factors Influencing Mental Health in Adults with Congenital Heart Disease in Japan
Koichiro Niwa

Many of our MAB members also served as moderators and discussants for a wide variety of CHD topics.

NHLBI study compares HLHS surgeries
A study funded by the National Heart Lung and Blood Institute comparing two shunts used in children with Hypoplastic Left Heart Syndrome was featured in the New England Journal of Medicine in May. Study results have not definitively favored one treatment over the other. But the study author, Dr. Richard Ohye, hopes to follow the children in the study into adulthood to better assess long-term outcomes. Click here for a news story on the study. An NEJM editorial is available for subscribers here and the full article can be found here.

Study published on vein problems in Fontan patients
In December 2009, ACHA updated you on research presented at the American Heart Association Annual Scientific Sessions on adults who underwent the Fontan procedure in childhood. The study assessed the commonality of ‘chronic venous insufficiency,’ a condition where the veins cannot pump enough oxygen-poor blood back to the heart. The results have now been published in the Journal of the American College of Cardiology. A news story on the study is available here and the journal article abstract can be read here.

March 22, 2010
Bench to Bassinet Program to accelerate the conversion of scientific discoveries into CHD treatments
The National Heart, Lung and Blood Institute of the National Institutes of Health has launched the Bench to Bassinet program. The goal of the program is to hasten the pace at which heart research on genetics and basic science can be developed into new treatments across the life span for people with congenital heart disease.

The program consists of three major research efforts. One of the new efforts is the Pediatric Cardiac Genomic Consortium. Investigators at five US centers will examine genetic data from hundreds of individuals born with CHD to reveal genes that may cause congenital heart disease, and how those genes influence the outcome of therapy. Another recent effort is the Cardiovascular Development Consortium, which will study heart development. The Bench to Bassinet Program also incorporated the Pediatric Heart Network, which does research to determine the best therapies and treatments for children with congenital and acquired heart disease.

The overall goal of these three programs is to provide the structure to turn knowledge into clinical practice, and use clinical practice to inform basic research. To see the NHLBI press release, click here.

January 26, 2010
The Food and Drug Administration approved the first heart valve that can be implanted without open heart surgery. Instead, a small cut is made in the patient's leg and the valve is delivered through a catheter. The device manufacturer is Medtronic Inc. and the valve is called the Melody Transcatheter Pulmonary Valve. For many children and adults born with a malformed pulmonary valve, this means undergoing fewer open heart surgeries throughout their lives. Currently over 1100 patients around the world have had the Melody valve implanted. Melody is still being tested, though. The FDA approval requires Medtronic to complete two more studies to test long-term risks and benefits.Click here and here to learn more.

January 20, 2010
Office of Rare Disease Research Plans Comprehensive Patient Registry
While congenital heart defects taken all together are the nation’s #1 birth defect, CHD also encompasses over 35 individual lesions, some of which are individually quite rare.

That’s why last week ACHA President Amy Verstappen attended a workshop held by the National Institutes of Health’s Office of Rare Disease Research last week. The meeting was called “Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories and Clinical Data.” The focus of the event was to discuss the development of a registry that would draw from many smaller rare disease registries and facilitate research growth.

ACHA supports the development of systems that bring together information on ACHD care with the goal of helping to improve treatment and outcomes for patients. We thank the NIH for this important effort and for including the congenital heart patient community in the project’s development.

ACC Catheterization Registry in Development
The American College of Cardiology is developing a new, national data registry, called the IMPACT Registry. IMPACT stands for IMproving Pediatric and Adult Congenital Treatment. It will assess the prevalence, demographics, management and outcomes of pediatric and adult patients with congenital heart disease who are undergoing diagnostic catheterizations and catheter-based interventions. By analyzing this data, doctors will learn more about the effectiveness of procedures. For more information on the IMPACT Registry, click here and here.

December 23, 2009
At the 2009 American Heart Association Annual Scientific Sessions, the Alliance for Adult Research in Congenital Cardiology (AARCC) group presented the results from their first prospective, multicenter trial examining the high prevalence of chronic venous insufficiency in adults whom had undergone the Fontan operation in childhood. The study found that chronic venous insufficiency was experienced by 60% of the Fontan population compared with 32% of healthy controls. Leg symptoms were observed in over 50% of the Fontan population compared with 4% of controls. To learn more about the study, click here.

A population study on adults with congenital heart defects, undertaken by Dr. Michelle Gurvitz in 2006, has now been completed (original announcement below). Dr. Gurvitz presented the results in an abstract called “Adults With Congenital Heart Disease: Who is in Care at Specialized Centers?” at the 2009 American Heart Association Scientific Sessions. You can find the abstract online here.

CHD May be a Stem Cell Related Disease
According to a report published in Nature, and conducted by researchers at the Harvard Stem Cell Institute, master stem cells have been identified in the heart. The location of these cells may help explain the cause of congenital heart disease (CHD), since the cells were found in regions of the heart known as “hot spots” for CHD. This discovery opens doors for new ways of conducting research and treating heart tissue. Further information is available here.

Role of Genetics in Tetrology of Fallot (TOF)
Recently, genetic variations identified by researchers at Howard Hughes Medical Institute have narrowed the search for the cause of the most common form of “blue baby syndrome”. According to Christine Seidman, lead researcher, in a study of 114 patients with TOF, 11 segments of DNA in heart-related genes were present in too few or too many “copies”. These changes, known as “copy number variations”, may provide the answer to the cause of TOF. Complete results of the study were published in the July 13th edition of Nature Genetics.