For the first time, we have seen the reversal of hypertrophic cardiomyopathy in two patients with Noonan syndrome.
Noonan syndrome is a genetic disorder that affects one in 2,000 children. It is characterized by unusual facial characteristics, cardiac abnormalities, short stature, anomalies of certain blood and lymph vessels, coagulation defects and learning difficulties—and has the dubious distinction of being the most common of all rare diseases.
Second, the authors realized early on that the most likely mechanism how these mutations caused Noonan syndrome is a gain of function. This is not the case in cancer, where one cell goes awry and acquires a mutation leading to uninhibited growth . Some data suggests that the biochemical effect of RAS-MAP kinase mutations is usually stronger in cancer—those mutations might not make it through the highly sensitive process leading from a fertilized egg to a fully formed embryo and a healthy newborn.
As described in our recent work in the Journal of the American College of Cardiology, we are now two years into treating two patients with the severe early-onset form of hypertrophic cardiomyopathy in Noonan syndrome with the MEK inhibitor trametinib. Still, the most difficult ethical dimension of our study is to balance the patient’s right to treat with our duty not to harm. How far should we go? The initial decision was easy to reach—but will become more difficult with every day our patients do well.
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