Sudden cardiac arrest in the field in an 18-year-old male athlete with Noonan syndrome: case presentation and 5-year follow-up

Abstract

We present a case of sudden cardiac arrest in the field with complete neurological recovery in an 18-year-old athlete with phenotypic Noonan syndrome. Evaluation revealed interventricular septal thickness of 18 mm without left ventricular outflow tract obstruction and no other identifiable structural, electrophysiologic, or genetic abnormality except isolated heterozygous variant for desmoplakin DSP variant p.Lys2103Glu, with unknown clinical significance.

RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome

“…RAS‐HCM carries a significant risk of mortality in infancy and a higher incidence of SCD during adolescence compared to primary hypertrophic cardiomyopathy (P‐HCM) (Lynch et al, 2023). In RAS‐HCM patients, the presence of sustained ventricular tachycardia (VT) is common and correlated with an increased risk of SCD (Aydin et al, 2011; Eichhorn et al, 2019; Petrin et al, 2019). Factors such as a history of VT or cardiac arrest, unexplained syncope, nonsustained VT, or extensive LVH are associated with a higher SCD risk and may warrant consideration of implantable cardioverter‐defibrillator (ICD) implantation (Ommen et al, 2020).…”