Study highlights:

• A significant number of young congenital heart disease patients stopped seeing cardiologists before age 22.
• For some, this means that late cardiac complications will go unrecognized and may become life-threatening.
• Men and those with a non-severe congenital heart defect were most likely to stop seeing a cardiologist.

Another study defines genetic risk of having same heart defect as parent, sibling

DALLAS, July 13, 2009 — One-fifth or more of young adults between ages 18–22 who have severe congenital heart disease don’t see a cardiologist, according to a Canadian study published in Circulation: Journal of the American Heart Association.

Using two Quebec medical databases for their analysis, researchers found that: 

• Twenty-eight percent of all patients didn’t receive care from a cardiologist after their sixth birthday, 47 percent after their 13th and 61 percent after their 18th.
• Twenty-one percent of patients with severe defects did not see a cardiologist after age 18.
• Most patients, in all age groups, visited primary care physicians, and 93 percent had some form of contact with Quebec’s healthcare system into their early adult years.
• Patients most likely to stop seeing a cardiologist before age 18 were those who were: male, had a non-severe defect, or received cardiac care outside a university hospital setting.

“Many young people who have had cardiac surgery or catheterization are not cured and require lifelong follow-up because they can develop new problems,” said Andrew S. Mackie, M.D., lead author of the study. “Some of these problems may not result in symptoms until they are very far along or until it’s too late.”

American College of Cardiology/American Heart Association guidelines for managing adults with congenital heart disease recommend that patients with moderate or complex heart defects be examined at a regional adult congenital heart disease (ACHD) center every 12 to 24 months. Those with very complex disease should be seen at least once every six to 12 months.

Little has been known about the number of these patients lost to follow-up, although pediatric cardiologists knew anecdotally that the problem existed.

For their study, Mackie and colleagues at the McGill Adult Unit for Congenital Heart Disease Excellence, affiliated with McGill University in Montreal, analyzed information on 643 of the 1,045 congenital heart disease patients born in the province in 1983 who were diagnosed before age 6 and alive at age 22.

Researchers divided patients into three groups based on the form of congenital defect — severe (13 percent); simple shunts, which included abnormal openings between the two upper chambers or two lower chambers of the heart or a patent ductus arteriosus (61 percent); and other defects (26 percent). They tracked the patients through three age levels: pre-adolescence (6–12 years), adolescence (13–17 years) and young adulthood (18–22 years).

“We were surprised that so many of the severe group were lost to follow-up,” Mackie said. “The population of adults with congenital heart disease is increasing exponentially. That makes this study relevant because it becomes even more important to ensure that teenagers and young adults with congenital heart disease don’t get lost within the medical system.”

Congenital heart disease patients are living longer because of improved diagnostic methods, pediatric heart surgical procedures and medical care. The Canadian team recommends beginning to prepare children with congenital heart disease in their early teens for the transition to adult care.

“We need to make sure they understand what their heart abnormalities are, and what complications they may encounter in adulthood,” he said.

Primary physicians also must better understand the need to refer their congenital heart disease patients to a heart clinic, he added. “If those physicians knew their patients required cardiology follow-up, more patients would get back to the cardiac clinic.”

The study findings have wide applicability outside of Quebec and Canada, the authors said. “I think that the results in Quebec are actually a best-case scenario, because Quebec and the rest of Canada provide universal health coverage,” Mackie said. “The problems we see in this paper are likely to be greater in countries with third-party payers.”

What is the risk of having the same heart defect as a parent or sibling?
In another study reported in Circulation, researchers defined the genetic risk for developing the same congenital defect as a parent or sibling. That risk ranges from three to 80 times higher than in the general population, depending on the specific defect.

Researchers examined the medical records of 18,207 Danish patients born between 1977 and 2005 and diagnosed with one or more congenital heart defects, an overall prevalence of 103 per 10,000 live births.

Among the congenital heart disease patients: 

• The overall risk of having the same heart defect as a first-order relative (a parent or sibling) was 8.15 times greater than in the public at large.
• The risk of developing any congenital heart defect different from a parent or sibling was 2.68 times higher.
• The increased risk of developing the same defect or a different one indicates that certain families have a susceptibility to congenital heart defects.
• People with congenital heart defects associated with a first degree relative accounted for only 2.2 percent of total congenital heart defect patients.

“Since most heart defects are the only case in the family, a large proportion of heart defects must arise in susceptible individuals,” the researchers wrote. “Although recurrence risk ratios are strong, very few families experience a second heart defect of any type, which is important in clinical counseling.”

Co-authors with Mackie are Raluca Ionescu-Ittu, M.Sc.; Judith Therrien, M.D.; Louise Pilote, M.D., Ph.D.; Michal Abrahamowicz, Ph.D.; and Ariane J. Marelli, M.D. Author disclosures are on the manuscript. The study was funded by the Fonds de la Recherche en Santé du Québec and the Heart and Stroke Foundation of Canada.

Co-authors on the genetic risk study are Nina Øyen, M.D., MPH; Gry Poulsen, M.Sc.; Heather A Boyd, Ph.D.; Jan Wohlfahrt, M.Sc.; Peter KA Jensen, M.D.; and Mads Melbye, M.D. The study was funded by The Lundbeck-foundation and The Danish Heart Association.

Statements and conclusions of study authors published in American Heart Association scientific journals are solely those of the study authors and do not necessarily reflect the association’s policy or position. The association makes no representation or guarantee as to their accuracy or reliability. The association receives funding primarily from individuals; foundations and corporations (including pharmaceutical, device manufacturers and other companies) also make donations and fund specific association programs and events. The association has strict policies to prevent these relationships from influencing the science content. Revenues from pharmaceutical and device corporations are available at www.americanheart.org/corporatefunding.  

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Editor’s note:
The American Heart Association is actively working to meet the needs of children and adults with congenital heart defects, funding least $15 million annually in research grants that directly relate to prenatal cardiovascular system development and to congenital heart disease. The association funds many millions more in other aspects of heart health and CV disease (including stroke) in children and on basic research that may potentially illuminate these and other cardiovascular issues. The AHA also supports legislation to create specialized congenital heart disease research centers and to extend the age from 18 to 25 that young adults with heart defects can remain on their parents’ insurance policies. Learn more about congenital heart disease.

NR09-1084 (Circ/Mackie-Oyen)

Additional Resources:
American Heart Association Statements and Guidelines on Congenital heart Defects