Table 1.
ID | Age | Sex | Activity | Details of event | Clinical history | Investigation | Family history | Autopsy findings | Genetic findings | Familial cascade screening | Diagnosis |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 28 | F | Unknown |
Found deceased at home Not witnessed |
Syncope 2 days before death Medication: mirtazapine |
No ECG Clinical examination |
Unknown | Inflammatory changes in the heart |
KCNQ1 p. Q220K |
1 neg (adopted) | LQTS |
2 | 8 | F | Sleep |
Found deceased at home Not witnessed Infection |
Healthy | None | None | Normal heart |
KCNQ1 p. H240R |
3 pos/1 neg | LQTS |
3 | 18 | M | Unknown |
Found deceased on the floor at home Not witnessed |
Had a drinking problem Medication: alprazolam, alimemazine. Had a cold 2 weeks before death |
None | None | Normal heart. Ethanol in femoral blood (1.06‰), alprazolam, alimemazine in therapeutic concentrations |
KCNQ1 p. A370V |
4 pos/3 neg | LQTS |
4 | 14 | M | Sitting |
Collapsed in school Witnessed |
ADHD medication: tomoxetine | None | Unknown | Normal heart |
KCNH2 p. S668L |
None (adopted) | LQTS |
5 | 18 | M | Physical activity |
Collapsed at the bus stop Witnessed |
Cardiac arrest 3 years before death High blood pressure Fever spells in childhood and suspected seizures as teenager |
ECG, cardiac ultra sound and EEG normal | Sister, grand grandfather and grand uncle SUD | Normal heart |
RYR2 p. S4168T |
3 pos/3 neg | CPVT |
6 | 14 | M | Physical activity |
Drowning Not witnessed |
Healthy | None | None | Normal heart |
RYR2 p. D401G De novo |
3 neg | CPVT |
7 | 18 | M | Sleep |
Found deceased at home Not witnessed |
Tachycardia 1½ years before death |
None No ECG |
None | Normal heart | None | – | Causa mortis ignota |
8 | 17 | M | Sleep/rest |
Found deceased at home Not witnessed |
Seizure 1 week before death Had a cold 3 weeks before death |
No ECG | None | Normal heart | None | – | Causa mortis ignota |
9 | 2 | M | Sleep |
Found deceased at home Not witnessed |
1 year before death sudden un-consciousness and falling from a bobby car | None | None | Normal heart | None | – | Causa mortis ignota |
10 | 3 | M | Sleep |
Found deceased at home Not witnessed |
Infection the day before death, fever seizures earlier | None | Father seizure, grandfather SUD | Normal heart | None | – | Causa mortis ignota |
11 | 18 | M | Sleep |
Found deceased at home Not witnessed |
Vomiting and palpitations some days before death | None | None | Normal heart | None | – | Causa mortis ignota |
12 | 17 | F | Sleep/rest |
Found deceased at home Not witnessed |
Vomiting, headache, and dizziness during the night before death | None | None | Normal heart | None | – | Causa mortis ignota |
13 | 18 | M | Sleep |
Found deceased at home Not witnessed |
The night before death vomiting, and hard physical activity | None | None |
Normal heart In urine: metandienon; 945 ng/ul |
None | – | Causa mortis ignota |
14 | 17 | M | Sleep |
Found deceased at home Not witnessed |
Diabetes | None | None | Normal heart, glucose, and lactate normal concentrations | None | – | Causa mortis ignota |
15 | 22 | F | Driving |
Car accident Included because no injury that could explain the death |
Pregnant | None | None | Normal heart | None | – | Causa mortis ignota |
ECG electrocardiogram, LQTS long QT syndrome, ADHD attention deficit hyperactivity disorder, EEG electroencephalogram, SUD sudden unexpected death, CPVT catecholaminergic polymorphic ventricular tachycardia, Causa mortis ignota death cause unknown