The research shows that a cardiomyopathy gene variant is much more common in children who progress from myocarditis to dilated cardiomyopathy. Specifically, 34.4% of the affected children had a pathologic cardiomyopathy gene variant, compared with 6.3% of control children; the authors report the difference was highly significant. The study compared 32 children with both dilated cardiomyopathy and myocarditis to children with myocarditis without dilated cardiomyopathy and to heart-healthy controls.
Authors propose a "double hit" model: a pathological mutation that reduces cardiac reserve is present from birth, and a later infection that reaches heart muscle cells triggers myocarditis and can overwhelm the weakened heart. The mutations not only raise the risk of immediate heart failure but also increase the chance of recurrent myocarditis and sudden cardiac death. For that reason, affected children may be candidates for implantable cardiac defibrillators.
Steven E. Lipshultz, founder and leader of the NIH-funded Pediatric Cardiomyopathy Registry (PCMR), is the corresponding author and a professor at the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo. He called the study "a game changer." The genetics studies were led by Stephanie Ware. Coauthors include researchers from many North American medical centers, and funders include the National Heart, Lung and Blood Institute PCMR, the Pediatric Cardiomyopathy Genes study, the Children’s Cardiomyopathy Foundation, the Kyle John Rymiszewski Foundation, and Sofia’s Hope Inc. The research appears in Circulation Heart Failure.
Difficult words
- cardiomyopathy — a disease of the heart muscle affecting its function
- myocarditis — inflammation of the heart muscle tissue
- dilated cardiomyopathy — a disease where heart chambers become enlarged
- variant — a version of a gene that differs from others
- mutation — a change in a gene's DNA sequencemutations
- cardiac reserve — the heart's ability to work under extra stress
- implantable — able to be placed inside the body
- defibrillator — a medical device that delivers a shockdefibrillators
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Discussion questions
- Should genetic testing be offered to children who have myocarditis? Explain your reasons.
- How might knowing a child has a cardiomyopathy gene variant change their medical care or monitoring?
- What are the possible benefits and risks of using implantable cardiac defibrillators in children?
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