Table 1.
Demographic and Genotype-Phenotype Correlations of the SADS Cohort
| SADS (n = 302) |
SADS and Negative Genetic Testing (n = 262)∗ |
SADS and Positive Genetic Testing (n = 40)∗ |
SADS Without Positive Genetic Testing for a RYR2 Variant (n = 285)∗ |
SADS and Positive Genetic Testing for a RYR2 Variant (n = 17)∗ |
p Value† | |
|---|---|---|---|---|---|---|
| Age at death, yrs | 24 (17–33) | 25 (18–33) | 20 (11–32) | 25 (18–34) | 13 (8–18) | 0.0004 |
| Male | 197/302 (65) | 172/262 (66) | 25/40 (62) | 183/285 (64) | 14/17 (82) | 0.1918 |
| Circumstances of death‡ | ||||||
| Exercise and extreme emotion | 30/262 (11) | 20/228 (9) | 10/34 (29) | 21/245 (9) | 9/17 (53) | <0.0001 |
| Sleep and rest | 188/262 (72) | 170/228 (75) | 18/34 (53) | 183/245 (75) | 5/17 (29) | 0.0002 |
| Light activity | 44/262 (17) | 38/228 (17) | 6/34 (18) | 41/245 (17) | 3/17 (18) | 1.0000 |
| Symptoms before death‡ | ||||||
| Syncope and/or seizures | 50/268 (18) | 40/235 (17) | 10/33 (30) | 43/253 (17) | 7/15 (47) | 0.0101 |
| Other§ | 18/268 (7) | 16/235 (7) | 2/33 (6) | 17/253 (7) | 1/15 (7) | 1.0000 |
| None | 200/268 (75) | 179/235 (76) | 21/33 (64) | 193/253 (76) | 7/15 (47) | 0.0269 |
| Family history of SCD <50 yrs of age‡ | 19/269 (7) | 12/233 (5) | 7/36 (19) | 16/254 (6) | 3/15 (20) | 0.0791 |
Values are median (interquartile range) or n/N (%).
ACMG = American College of Medical Genetics; SADS = sudden arrhythmic death syndrome; SCD = sudden cardiac death.
∗
Positive outcome was defined as a pathogenic or likely pathogenic variant per the ACMG guidelines (12).
†
p values refer to the following comparison: positive genetic testing RYR2 (n = 17) versus no positive RYR2 test (n = 285).
‡
Note missing data for these parameters and that percentages are based on nonmissing data.
§
Includes palpitations, shortness of breath, and chest pain.