A new study affirms that the long-standing practice of focusing on the individual and employing a multidisciplinary approach in treating children with pediatric hypertrophic cardiomyopathy (HCM) results in the best possible outcomes.
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Thick heart walls
Children who have hypertrophic cardiomyopathy, a disease of the heart muscle, have abnormally thick walls of the heart. Pediatric HCM progresses differently, depending in part on what causes the condition.
HCM is a rare condition, most often diagnosed in infants. Each year, only two to three cases out of every 100,000 children are identified.
Taking a closer look
A recent study conducted by researchers at the University of Miami Miller School of Medicine and other institutions looked at data collected from many cardiology centers in the United States and Canada. Taking more than 19 years, this long-term study was published online in The Lancet and presented at the 2013 European Society of Cardiology Congress.
Research finds some patients at greater risk
Researchers found that HCM patients who also had a genetic metabolic disorder or congestive heart failure were at greatest risk for early death. These patients got sicker and needed heart transplants sooner than other HCM patients, sometimes almost immediately upon diagnosis.
The genetic component in HCM “highlights the role of genetic testing in the evaluation and management of these patients and their families,” says clinical geneticist Rocio Moran, MD, who did not participate in the study but reviewed the results. For a growing number of disorders, genetics has the ability to accurately identify the cause of patients’ medical issues and guide their medical management.
Children who had hardening of the heart walls or enlargement and weakening of the heart in addition to thickened heart walls also got sicker and needed transplants sooner than patients who did not have those additional problems. Other risk factors included small body size or low weight and being female.
Children who were diagnosed after age one and whose HCM was of unknown origin had the best survival rates of all the study subjects.
Findings support personalized treatment
The results of the study will help clinicians swiftly and effectively decide on appropriate treatment for those children most at risk, but the findings were not surprising to pediatric cardiologist Kenneth Zahka, MD. “It is a nice confirmation of what we have done clinically in our Hypertrophic Cardiomyopathy Center for some time,” he says.
Dr. Moran agrees: “It provides evidence for what we have been practicing – personalized medicine informed by genetics and genomics.”
Cleveland Clinic genetic counselor Christina Rigelsky, MS, LGC, adds, “These findings highlight the need for a multidisciplinary approach to children with cardiomyopathy to help understand the cause of the disease, so that clinicians can best determine medical management and provide anticipatory guidance to families.”