When your child has a congenital heart defect

When Lara Keable-John’s first child was born prematurely, at 31 weeks gestation, doctors said he wouldn’t survive 48 hours. But Marcus beat the odds, overcoming hydrops (an accumulation of fluid between his lungs and chest cavity) only to develop hypertrophic cardiomyopathy, which is a thickening and stiffening of the heart muscle. Doctors then discovered Marcus had a congenital heart defect (CHD) known as pulmonary valve stenosis that restricted the flow of blood between his right ventricle and his lungs.

After undergoing open-heart surgery at 11 months to repair the valve stenosis, Marcus is very much alive at age five, enjoying life in Ottawa with his parents and two younger siblings. According to the Canadian Congenital Heart Alliance, he is one of more than 180,000 Canadian children and adults living with a congenital heart defect.

When you hear about heart disease, your mind probably jumps to the kind acquired in adulthood. According to Brian McCrindle, a paediatric cardiologist at the Hospital for Sick Children in Toronto and spokesperson for the Heart and Stroke Foundation of Canada, the type of heart problems that adults get are primarily related to arteriosclerosis, which is the hardening of the arteries caused by high blood pressure, a fatty diet, smoking or diabetes. “But the heart problems that kids get are actually birth defects of the heart,” says McCrindle.

The Children’s Heart Foundation, an American organization that funds research to advance diagnosis, treatment and prevention of CHDs, identifies congenital heart defects as the most common birth defect worldwide. According to the Public Health Agency of Canada, approximately one of every 100 babies born in this country has some form of heart abnormality. CHDs range from tiny holes in the heart that may never need treatment, to life-threatening problems that require open-heart surgery.

Usually, more severe CHDs are detected after delivery, but before discharge from the hospital, or in the first month of a baby’s life, says McCrindle. Symptoms can be obvious, such as a bluish tint to the skin, lips or fingernails; more subtle, such as poor feeding or weight gain as an infant; or ambiguous, such as a heart murmur, which could signify a heart problem or be completely benign.

Hospitals in the US are adopting pulse oximetry screening, a simple test that can detect seven of the most critical congenital heart defects before infants are discharged after birth. The test uses skin sensors to painlessly measure a baby’s pulse rate and the amount of oxygen in the blood. (The Canadian Paediatric Society has no comment on when this test will be available to Canadians.)

“There’s a wide spectrum of defects that have differing degrees of severity, but also different degrees of complexity. The simpler defects tend to be much more common than the more severe ones,” McCrindle explains.

Keable-John’s son, Marcus, has a more severe heart problem. Though his heart is currently stable and he can play, swim and run around like other five-year-old boys, Marcus’ heart defect will never go away. He will require another surgery as he gets bigger and outgrows the current patch on his heart valve. There is no fix for hypertrophic cardiomyopathy, and it puts him at an increased risk for a heart attack. “There’s the very real possibility of sudden cardiac arrest,” says Keable-John. “That’s the scary reality of the disease. It’s a silent killer.”

Families caring for a “cardio kid” must learn to coexist with what feels like a ticking time bomb, which creates ongoing stress and anxiety, says social worker Karen Degagne, who provides support for cardio families at the Children’s Hospital of Eastern Ontario in Ottawa. She says the psychological and social impact of a CHD diagnosis is, in many ways, harder to cope with than its medical complexities.

“Dealing with congenital heart disease often interrupts the normal functioning of a family and their routines, and places increased demands on parents,” says Degagne. She uses the term “chronic sorrow” to describe their new normal: “It’s an ongoing grieving process for families. They haven’t lost their child, but the fear is there.” Another common concern Degagne sees in cardio families is guilt that their other children will grow up feeling neglected. “There’s a perception that the healthy children are feeling not as important because one child is getting all this attention from Mom and Dad,” she says. Degagne recommends that parents connect with other families who have children with similar heart problems, to share feelings and coping strategies.

Talking with other cardio families certainly had a big impact on Keable-John’s life. When she first learned about the severity of Marcus’s heart defect, she was scared to have more kids.

Serendipitously, while sitting in the waiting room during her son’s open-heart surgery, she met another couple who had gone on to have six healthy babies after their first child was born with a CHD, helping her realize that her dream of a bigger family was possible.

“These are the people who inspire, and I hope to be one of those people,” says Keable-John, who is now a mother of three. Managing life with a cardio kid isn’t something she was expecting, but she’s making the most of it and is learning from Marcus. “I’ve learned an appreciation of the everyday and the present and the now — and balance. I do not take life for granted at all anymore,” she says. “Marcus is the child I was meant to have and I’m embracing that journey as much as I can.”

A version of this article appeared in our March 2013 issue with the headline "Conditions of the heart," p. 42.