A weakening or enlargement in the heart muscle causing impaired function, arrhythmias, or even sudden death, cardiomyopathy can result from other medical conditions including high blood pressure, viral infections, and other forms of heart disease.  More insidiously, it can also be passed from parent to child as a genetic abnormality, its life-threatening presence undetected for years.  It’s this danger that the Familial Cardiomyopathy program, a new partnership between Penn Medicine and Children’s Hospital of Philadelphia, is intended to combat.

“It’s the first program of its kind in the tri-state area,” says Anjali Owens, MD, the cardiologist who heads the Penn medical team.  “The focus is to put in place a screening program for the families of patients who are diagnosed with one of these familial cardiomyopathies.”

 

Early Detection Leads to More Effective Treatment

While not every case of cardiomyopathy has a genetic component, certain types of the disease are known to run in families.  One is hypertrophic cardiomyopathy, in which heart muscle becomes abnormally thickened; another is dilated cardiomyopathy, in which heart chambers become enlarged and weakened.  Other inheritable cardiomyopathies can affect individual heart chambers, or disrupt the cardiac electrical system and create dangerously abnormal heart rhythms.  In its most advanced stages, cardiomyopathy may need to be treated with surgery, implantation of a pacemaker or defibrillator, or even a heart transplant.

But the earlier cardiomyopathy is detected, the more effectively it can be treated -- or even prevented, such as in children or young adults who have inherited the faulty genes.  If a patient at HUP is diagnosed with a genetic form of cardiomyopathy in Owens’s Heart Failure and Transplant group, it’s a clear sign to send the kids across the street to Beth Kaufman, MD, director of CHOP’s Cardiomyopathy and Heart Failure program.

“We’re really seeing that the different types of cardiomyopathy have a significant genetic basis,” said Kaufman.  “If you have one individual who’s found to have, say, a dilated cardiomyopathy, there’s a higher likelihood that one of their close relatives can have a similar form of the same disease.
“As we have that understanding better, we can potentially identify people who are at risk of developing serious life threatening disease in a preclinical state, prior to them getting symptoms.”

Children and young adults can be screened for cardiomyopathy either clinically, through a visit with a cardiologist including an EKG and echocardiogram to check for physical indications, or genetically, in which DNA from a blood sample is analyzed for the specific genetic markers for cardiomyopathy.  Genetic counselors such as Penn Medicine’s Shana Merrill thus play a vital role in the program.

“The specific chance [a child will] develop the condition really depends upon the particular family history and the particular mutation,” Merrill noted.  “It’s not exact, and one of the roles of the genetic counselor is to discuss what level of uncertainty is there with genetic testing.  But it can really give a lot of peace of mind in certain circumstances to be able to say to a parent, okay, we’ve figured out what caused this in you, and we can tell you that your two children have not inherited it and they don’t need to be followed very closely.”

Although inheriting a genetic disposition for cardiomyopathy doesn’t always mean a child will develop the disease, knowing that the risk exists can make a big difference.  Once identified, that child can be followed more closely with periodic examinations and evaluations for any signs of incipient disease.

Kaufman describes a recent case involving a family in which the father had dilated cardiomyopathy and ventricular arrhythmias and eventually required a heart transplant.  His two children were screened and, found to carry the genes for familial cardiomyopathy, have continued to be closely followed as they progress through their teenage years.  “The children have not gotten sick, but there is evidence that they also may be affected by cardiomyopathy,” she said.  “So instead of continuing very high-level competitive sports activities in high school and as they go into college, they’ve altered their lifestyles in the sense of some activity restrictions to try to prevent them from overexerting themselves and not recognizing any signs or symptoms that can develop.”

 

Continuous Monitoring is Critical

That kind of continuous close monitoring is particularly critical in children and teenagers, because cardiomyopathy in those age groups can be extremely difficult to diagnose, obscured by the natural physiological changes of adolescence. Cardiomyopathy can also easily be mistaken for other conditions, particularly in children, because many common childhood illnesses have the same symptoms as heart failure or heart disease.  “But if you know that they’re at risk, you’ll think about it and identify it much quicker,” noted Kaufman.

It’s not always the older members of a family who provide the first warning signs of cardiomyopathy.  Sometimes it’s diagnosed in a child first, and CHOP doctors send the parents to Penn to be evaluated.  Because of this occasionally two-way referral process, Penn and CHOP have been working together for years on helping families affected by cardiomyopathy.  But the formalization of the relationship in the Familial Cardiomyopathy Program is brand new.

“Referring for screening the adult first-degree relatives of our pediatric patients affected with cardiomyopathy has been standard for several years,” Kaufman said.  “Our goal in doing this formally is to facilitate that process, to make it uniform.  Ideally, if Mom has an appointment at Penn with Dr. Owens, after lunch they can come here and get their kids screened if they’re due for their once-a-year screening.  That’s what we hope to provide.”  The program, she said, offers “the value of counseling that comes from a cardiomyopathy specialty team to help families think through these different issues and to help live well knowing that they may be at risk of a serious life threatening disease."

The rapid influx of patients to the Familial Cardiomyopathy program make it quite clear that it’s already more than fulfilling its goals.  “This program just went live and up and running in July,” Shana Merrill pointed out.  “It’s brand new, people are still learning about it, and I can tell you that even just within the first month or so, we certainly have been able to fill up our clinic time.  So I think that there is a need for it.  This is certainly the only clinic of its kind in Philadelphia, and I do think there’s unique expertise here for it.”