Two papers published online last week in the Journal of Clinical Investigation report the prevention and reversal of hypertrophic cardiomyopathy in lab mice with congenital heart disease, providing insight into the nature and potential treatment of a spectrum of related conditions.
In separate but related studies, researchers uncovered signaling pathways in mice that lead to the birth defect known as hypertrophic cardiomyopathy, in which heart muscle cells enlarge and cause ventricle walls to thicken. The researchers then showed that two different small-molecule drugs, an immunosuppressant and an anti-cancer agent, could prevent and reverse the condition in mice.
As the accompanying journal commentary notes, these are the first studies to explore treatment in mammals for Noonan syndrome—a disease whose symptoms include hypertrophic cardiomyopathy—and related disorders. The studies also offer new insight into the role RAS signaling plays in hypertrophic cardiomyopathy.
The studies were partly supported by NHLBI grants to Maria I. Kontaridis and Benjamin G. Neel.
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