Study reveals cause of heart muscle disease in children is key to effective treatment

Cardiomyopathy treatment for children should be personalised based on the root cause, symptoms, and course of the ailment in each child.

Cardiomyopathy treatment for children should be personalised based on the root cause, symptoms, and course of the ailment in each child. According to a new American Heart Association scientific statement published in the Association's flagship, peer-reviewed journal Circulation.

Cardiomyopathy is a cardiac muscle illness that can make it difficult for the heart to pump blood to the rest of the body, eventually leading to heart failure and death. There are various forms of paediatric cardiomyopathies, all of which are rare but potentially fatal illnesses. According to population-based research in the United States, Finland, and Australia, they afflict one in every 100,000 children. The new scientific statement, the first to focus on treatment for cardiomyopathy in children, emphasizes important differences among the various types of treatments for cardiomyopathies and heart failure in children and adults. The statement is a companion to the Association's 2019 scientific statement focused on the diagnosis of pediatric cardiomyopathy.

"Children's cardiomyopathies may have similar names to cardiomyopathies in adults; however, they often have very different causes, different risk factors, different paths of progression and different outcomes," said Steven E. Lipshultz, M.D., FAHA, chair of the statement writing group. "Children don't have the same behavioral or environmental factors contributing to cardiomyopathy -- in general, they don't smoke; they don't drink alcohol; they don't have long-standing conditions such as obesity or Type 2 diabetes. So, treatments in children, which may range from replacing missing enzymes to heart transplantation, must be tailored to the root causes of their cardiomyopathy." Many of the causes of cardiomyopathy in children are related to genetic abnormalities -- rather than Type 2 diabetes, alcoholism, long-term high blood pressure or family history, as seen in adults. Symptoms of cardiomyopathy in children may include difficulty breathing; heart palpitations; fainting during physical activity; swelling in the ankles, feet, legs, abdomen, or congestion of neck veins; or heart failure symptoms, such as trouble breathing, poor feeding or growth, excessive sweating, low blood pressure or fatigue.

Pediatric cardiomyopathy may be diagnosed in a variety of stages -- some patients may carry a genetic abnormality for the condition yet have no symptoms, while others may have severe symptoms or end-stage disease, according to the statement writing committee. Physicians are urged to thoroughly examine and evaluate their pediatric patients to identify the root cause of the condition to develop a treatment plan. "Genetic testing of all children with cardiomyopathy is prudent and is likely to have clinical value," said Lipshultz, who is also a professor in the department of pediatrics and former chair of pediatrics at the University at Buffalo's Jacobs School of Medicine and Biomedical Sciences in Buffalo, New York. "Such genetic screening may result in financial and emotional cost savings." 

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