Table 3.
Phenotype findings in E3DS
| Clinical findings in RYR2 exon 3 deletion syndromea | |
|---|---|
| Sinus node dysfunction | 58% |
| Atrial standstill | 7% |
| AV node conduction disordersb | 22% |
| Atrial fibrillation/atrial flutter | 18% |
| Atrial tachycardia or other SVT | 36% |
| CPVT-like ventricular arrhythmias | 56% |
| Sudden cardiac death | 11% |
| Dilated cardiomyopathy ± left ventricular non-compaction | 18% |
| Mitral valve prolapse | 4% |
AV, atrioventricular; CPVT, catecholaminergic polymorphic ventricular tachycardia; SVT, supraventricular tachycardia.
All estimates are based on a pooled analysis of published reports and the first author’s own cohort of E3DS patients. The definition of the different rhythm disorders and cardiomyopathies is based on current guidelines. Only rhythm disorders with appropriate clinical testing and description in the corresponding articles were retained for data collection and analysis. Given the variable extent of clinical testing and limited follow-up data in the reviewed literature, the pooled findings may only provide crude estimates of the frequency of E3DS-related rhythm disorders.
Including second-degree, third-degree, or high degree AV block.