Congenital Heart Defects Patients Don’t See Cardiologist Regularly

Ruzanna Harutyunyan's picture

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.”