Journal des troubles génétiques et rapports génétiques

Left Ventricular Noncompaction in Noonan Syndrome

Robert B Hinton, Paula Goldenberg, Richard C Godby, Ashley Parrott, Amy G Shikany, Benjamin J Landis, Jeanne F James, Erin M Miller, Stephanie M Ware

Noonan Syndrome (NS) is a relatively common genetic disorder with complete penetrance and variable expressivity. More than 80% of NS patients have cardiovascular abnormalities, including malformations and cardiomyopathy. However, the occurrence of left ventricular non compaction (LVNC) in a series of NS patients has not been studied. We present a case series of 6 patients from five families with NS and LVNC. Causative NS mutations were identified in 40% of unrelated patients. LVNC was present as an isolated finding, associated with cardiovascular malformation (CVM), and/ or associated with hypertrophic cardiomyopathy (HCM). This is the first series of LVNC in NS reported. Awareness of NS in LVNC is important for management and family based cardiac screening recommendations.