Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines.

Pamela Rivero-García,Isabel Del Carmen Campuzano-Estrada,Jorge Humberto Hernandez-Felix

Clinical case reports（2023）

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Abstract

Noonan syndrome with multiple lentigines (NSML) is a rare RASopathy caused by pathogenic variants (PV) predominantly in gene. We report a 54-year-old male with apical hypertrophic cardiomyopathy, who was diagnosed with NSML due to his short stature, multiple lentigines, winged neck, pectus excavatum, and a heterozygous PV in c.836A > ¡G.

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Key words

LEOPARD syndrome, Mexico, Noonan syndrome with multiple lentigines, PTPN11, RASopathy

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