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

Published online by Cambridge University Press:  05 August 2019

Ziva Petrin Open the ORCID record for Ziva Petrin [Opens in a new window] ,
Benjamin Soffer  and
Steven J. Daniels
Ziva Petrin*
Affiliation:
Department of Physical Medicine and Rehabilitation, University of Utah, Salt Lake City, UT, USA Department of Medicine, Jersey Shore University Medical Center, Neptune, NJ, USA
Benjamin Soffer
Affiliation:
Department of Medicine, Jersey Shore University Medical Center, Neptune, NJ, USA
Steven J. Daniels
Affiliation:
Department of Medicine, Jersey Shore University Medical Center, Neptune, NJ, USA
*
Author for correspondence: Ziva Petrin, University of Utah, 590 Wakara Way, Salt Lake City, UT 84108, USA. Tel: +1 801-587-5458; Fax: 801-587-5482. E-mail: ziva.petrin.work@gmail.com
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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.

Keywords

Noonan syndromehypertrophic cardiomyopathysudden cardiac deathdesmoplakinathlete
Type
Brief Report
Information
Cardiology in the Young , Volume 29 , Issue 9 , September 2019 , pp. 1214 - 1216
Copyright
© Cambridge University Press 2019 

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References

Asif, IM, Harmon, KG. Incidence and etiology of sudden cardiac death: New updates for athletic departments. Sports Health 2017; 9 (3): 268–279. doi:10.1177/1941738117694153 CrossRefGoogle ScholarPubMed
Ackerman, M, Atkins, DL, Triedman, JK. Sudden cardiac death in the young. Circulation 2016; 133 (10): 1006–1026. doi:10.1161/CIRCULATIONAHA.115.020254 CrossRefGoogle Scholar
Maron, BJ, Doerer, JJ, Haas, TS, et al. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980–2006. Circulation 2009; 119 (8): 1085–1092. doi:10.1161/CIRCULATIONAHA.108.804617 CrossRefGoogle ScholarPubMed
Prendiville, TW, Gauvreau, K, Tworog-Dube, E, et al. Cardiovascular disease in Noonan syndrome. Arch Dis Child 2014; 99 (7): 629–634. doi:10.1136/archdischild-2013-305047 CrossRefGoogle ScholarPubMed
Sublett, JA, Prada, CE, Jefferies, JL. Case report: left ventricular noncompaction cardiomyopathy and RASopathies. Eur J Med Genet 2017; 60 (12): 680–684. doi:10.1016/j.ejmg.2017.09.002 CrossRefGoogle ScholarPubMed
Colquitt, JL, Noonan, JA. Cardiac findings in Noonan syndrome on long-term follow-up. Congenit Heart Dis 2014; 9 (2): 144–150. doi:10.1111/chd.12102 CrossRefGoogle ScholarPubMed
Gelb, BD, Roberts, AE, Tartaglia, M. Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol 2015; 39 (1): 13–19. doi:10.1016/j.ppedcard.2015.01.002 CrossRefGoogle ScholarPubMed
Roberts, AE, Allanson, JE, Tartaglia, M, et al. Noonan syndrome. Lancet (London, England) 2013; 381 (9863): 333–342. doi:10.1016/S0140-6736(12)61023-X CrossRefGoogle ScholarPubMed
Favre, B, Begré, N, Marsili, L, et al. Desmoplakin gene variants and risk for arrhythmogenic cardiomyopathy. Circ Genomic Precis Med 2018; 11 (9). doi:10.1161/CIRCGEN.118.002241 CrossRefGoogle Scholar
Shattock, MJ, Tipton, MJ. “Autonomic conflict”: a different way to die during cold water immersion? J Physiol 2012; 590 (14): 3219–3230. doi:10.1113/jphysiol.2012.229864 CrossRefGoogle ScholarPubMed