Rapid haemodynamic improvement with trametinib in Noonan syndrome-associated hypertrophic obstructive cardiomyopathy: a report of two cases with distinct genotypes. (PubMed, Cardiol Young) - Oct 2, 2026 - "These cases provide complementary evidence supporting the efficacy and tolerability of trametinib, including its rapid response time, across two distinct Noonan syndrome genotypes in older paediatric patients with established, surgically treated hypertrophic obstructive cardiomyopathy. Our findings support mitogen-activated protein kinase kinase inhibition as a genotype-agnostic targeted therapeutic strategy in Noonan syndrome-associated hypertrophic obstructive cardiomyopathy and reinforce the need for prospective trials to standardise protocols and define long-term outcomes."
Journal • Cardiomyopathy • Cardiovascular • Dermatology • Genetic Disorders • Hypertrophic Cardiomyopathy • Obstructive Hypertrophic Cardiomyopathy • Pediatrics • Pruritus • PTPN11 • RIT1
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Hesham Obeidat; Mahmoud Alsoufi; Meena Al Hadithi; Mohamed Kasem; Omar Elsedawy; Yakup Ergul
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