Cardiovascular disease in Noonan syndrome

Current Opinion in Pediatrics
Mary Ella Pierpont, Maria Cristina Digilio

Abstract

To provide information on the scope of cardiac disease in Noonan syndrome. Noonan syndrome is a common autosomal dominant RASopathy disorder characterized by clinical findings of facial dysmorphism, congenital heart disease, and short stature. The degree of genetic heterogeneity has recently become evident in that Noonan syndrome is now known to be caused by mutations in a large variety of genes which produce dysregulation of the RAS-MAPK (mitogen-activated protein kinase) signaling pathway. The scope of cardiac disease in Noonan syndrome is quite variable depending on the gene mutation, with some mutations usually associated with a high incidence of congenital heart defects (PTPN11, KRAS, and others) while those with predominantly hypertrophic cardiomyopathy (HCM) have higher risk and morbidity profiles (RAF1, RIT1, and those associated with multiple lentigines). Cardiac disease in Noonan syndrome varies according to the type of gene mutation. The most common forms of cardiac disease include pulmonary stenosis, HCM, and atrial septal defect. HCM in general is associated with increased risk, mortality, and morbidity. New concepts for potential treatments are discussed.

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Citations

Jul 2, 2019·Pediatric Transplantation·Leslie M McCallenKathryn C Chatfield
Oct 9, 2019·Journal of Cardiovascular Medicine·Cesare de Gregorio, Antonino Recupero
Sep 29, 2020·Cardiology in the Young·Pezad N DoctorAmrit Misra
Nov 27, 2020·American Journal of Medical Genetics. Part a·Elizabeth I PierpontWilliam B Dobyns
Feb 8, 2021·Experimental Cell Research·Narasimman GurusamyJohnson Rajasingh
Apr 2, 2021·The Journal of Pediatrics·Janet M BellKathryn C Chatfield
Mar 8, 2021·Clinical and Experimental Pediatrics·Heeyoung SeokDa-Zhi Wang
Aug 13, 2021·Cardiology in the Young·Eefke VosJos M T Draaisma
Jan 18, 2022·Cardiology in the Young·Christopher A ChowRobert W Elder

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