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

Abstract

Key Clinical Message Noonan syndrome with multiple lentigines (NSML) is a rare RASopathy caused by pathogenic variants (PV) predominantly in PTPN11 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 PTPN11 c.836A > ¡G.

Keywords

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