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Here's a concise gist of the article "Neonatal Cardiac Dilation and Dysfunction: Time to Look in the Genes" by Meaghan C. Rousset, MD, and Sudeep D. Sunthankar, MD, MSc:
GIST:
Cardiomyopathy in neonates can be challenging to diagnose because it often presents with ventricular hypertrophy, dilation, or dysfunction, symptoms which overlap with myocarditis. Dilated cardiomyopathy is the most common form in pediatrics but distinguishing it from viral myocarditis can be difficult, especially in newborns.
The article presents a case of a full-term newborn with a cardiac murmur and cyanosis, found to have biventricular dysfunction on echocardiogram. Although a positive viral panel for enterovirus suggested viral myocarditis, lack of inflammatory biomarkers and significant right ventricular dilation raised doubts about this diagnosis. Genetic testing was performed and identified a likely pathogenic variant in the ACTC1 gene, implicating a primary genetic cardiomyopathy rather than viral myocarditis.
This case illustrates the diagnostic challenges in neonatal cardiomyopathy and underscores the importance of genetic testing to guide diagnosis and prognosis when clinical and laboratory findings are inconclusive.
If you want, I can help summarize it further or explain specific parts!
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