Key result
Mavacamten reduces LVOT gradient by ~109 mm Hg and relieves symptoms in Noonan syndrome.
Why the study?
There have been limited studies of mavacamten use in nonsarcomeric forms of hypertrophic cardiomyopathy such as RAF1-associated Noonan syndrome.
Does mavacamten improve left ventricular outflow tract gradients and symptoms in an adult with RAF1-associated Noonan syndrome and obstructive hypertrophic cardiomyopathy?
Case Report (n=1)
Does mavacamten improve left ventricular outflow tract gradients and symptoms in an adult with RAF1-associated Noonan syndrome and obstructive hypertrophic cardiomyopathy?
Mavacamten may be an effective pharmacologic strategy for reducing hypercontractility and outflow tract gradients in patients with nonsarcomeric, RASopathy-associated hypertrophic cardiomyopathy such as Noonan syndrome.
Answers are grounded in this paper and cite their sources.
Hypothesis-generating for mavacamten in RAF1-Noonan obstructive HCM; controlled trials needed before broader use.
BACKGROUND: Mavacamten is a first-in class allosteric inhibitor of cardiac myosin that is shown to reduce left ventricular outflow tract obstruction and improves symptoms in obstructive hypertrophic cardiomyopathy (HCM). However, there have been limited studies of the use of mavacamten in nonsarcomeric forms of HCM, such as Noonan syndrome. CASE SUMMARY: This case report describes therapeutic benefit with mavacamten in a 26-year-old man with RAF1-associated Noonan syndrome and previous septal myectomy. DISCUSSION: This case represents one of the first reports of mavacamten use in RAF1-associated Noonan syndrome, a nonsarcomeric form of HCM, in a patient with recurrent obstruction after early septal myectomy. Treatment was associated with progressive reduction in left ventricular outflow tract gradients and symptomatic improvement, supporting myosin inhibition as a potential therapeutic strategy in syndromic HCM. TAKE-HOME MESSAGE: Mavacamten may be an effective treatment for obstructive HCM from RAF1-associated Noonan syndrome.
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Ziauddin et al. (2026) conducted a case report in RAF1-associated Noonan syndrome with obstructive hypertrophic cardiomyopathy (n=1). Mavacamten vs. Baseline (pre-treatment) was evaluated on Left ventricular outflow tract (LVOT) gradient during Valsalva maneuver (mm Hg). Mavacamten reduced the provocable left ventricular outflow tract gradient from 121 mm Hg to 12 mm Hg and improved symptoms over 40 weeks in a patient with RAF1-associated Noonan syndrome.
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