Sudden cardiac arrest in the field in an 18-year-old male athlete with Noonan syndrome: case presentation and 5-year follow-up. (5th August 2019)

• Record Type: Journal Article
• Authors: Petrin, Ziva; Soffer, Benjamin; Daniels, Steven J.
• Is Part Of: Cardiology in the young. Volume 29:Number 9(2019)
• Page Start: 1214
• Page End: 1216
• Publication Date: 2019-08-05
• Subjects: Noonan syndrome, -- hypertrophic cardiomyopathy, -- sudden cardiac death, -- desmoplakin, -- athlete; Pediatric cardiology -- Periodicals; 618.9212
• DOI: 10.1017/S1047951119001720
• Languages: English
• ISSNs: 1047-9511

Abstract

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.