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

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

Published in: Clinical case reports (2023)

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.

Keyphrases

hypertrophic cardiomyopathy
left ventricular
case report
copy number
heart failure
early onset
gene expression