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

ABSTRACT: 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.

SUBMITTER: Rivero-Garcia P 

PROVIDER: S-EPMC10290193 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature