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

被引:3
|
作者
Petrin, Ziva [1 ,2 ]
Soffer, Benjamin [2 ]
Daniels, Steven J. [2 ]
机构
[1] Univ Utah, Dept Phys Med & Rehabil, Salt Lake City, UT USA
[2] Jersey Shore Univ, Med Ctr, Dept Med, Neptune, NJ USA
关键词
Noonan syndrome; hypertrophic cardiomyopathy; sudden cardiac death; desmoplakin; athlete; DEATH;
D O I
10.1017/S1047951119001720
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:1214 / 1216
页数:3
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