Table 1.
Clinical features of index patients with a causal variant after post-mortem analysis
| Patients | Sex | Origin | Age of death | Context of death | Autopsy | Final clinical diagnosis of the disease | Family history |
|---|---|---|---|---|---|---|---|
| 1 | M | Turkey | 35 years | Inaugural SCD | Fibrofatty replacement of right RV myocardium, HW: 430 g | ARVC | Supraventricular tachycardia in the mother |
| 2 | M | Egypt | 32 years | Inaugural SCD | Fibrofatty replacement of both ventricles, HW 510 g | ARVC | SCD in one brother without precise diagnosis of the cause |
| 3 | M | France | 33 years | Inaugural SCD | RV dilatation, fibrofatty replacement of RV, HW: 425 g | ARVC | SCD in the paternal uncle without precise diagnosis of the cause |
| 4 | F | France | 39 years | SCD. ARVC known before death, with biventricular evolution | Not performed (post-mortem genetic analysis based on another tissue) | ARVC | None |
| 5 | M | The Netherlands | 9 years | Inaugural SCD | Borderline for HCM (macroscopy: weight 230 g, septum thickness 7 mm, posterior wall 12 mm; histology: very small area with fibrosis and disarray) | HCM (suspected) | Suspected apical HCM in the mother (with peripartum heart failure) |
| 6 | F | France | 52 years | Pulmonary embolism. HCM known before death | Not performed (post-mortem genetic analysis based on another tissue) | HCM | None |
| 7 | F | France | 47 years | SCD. HCM known before death | Not performed (post-mortem genetic analysis based on another tissue) | HCM | HCM in the sister |
| 8 | M | Morocco | 66 years | SCD. HCM known before death | Not performed (post-mortem genetic analysis based on another tissue) | HCM | SCD in two children (12 and 15 years), unknown cause, no autopsy |
| 9 | F | France | 5 months | Acute heart failure/multiorgan failure and death. No clinical diagnosis before emergency management | No autopsy, but endomyocardial biopsy: subnormal histological result | LVNC | HCM in the grandmother (LV thickness 15 mm) |
| HCM in the father (septum thickness 22 mm) | |||||||
| 10 | F | Algeria | 16 years | Inaugural SCD | HCM at autopsy (LV septum thickness 28 mm, lateral wall 17 mm; microscopy: myocardial disarray) | HCM/DCM | DCM in the father (LVEF 30%, left atrium 61 mm) |
| 11 | F | France | 2 years | Massive stroke. Diagnosis of RCM during emergency management | Not performed (but endomyocardial biopsy, non-specific findings) | RCM | None |
| 12 | M | France | 44 years | Heart failure. DCM known before death | Not performed (post-mortem genetic analysis based on another tissue) | DCM | None |
| 13 | M | Morocco | 1 month | Heart failure/multiorgan failure. No clinical diagnosis before emergency management | Not performed (post-mortem genetic analysis based on another tissue) | DCM | None |
| 14 | F | USA | 74 years | Heart failure. RCM known before death. | Not performed (post-mortem genetic analysis based on another tissue) | RCM (amyloidosis) | Possible cardiac disease in brother (no detail) |
| 15 | M | France | 59 years | SCD. DCM and AVB known before death. | Not performed (post-mortem genetic analysis based on another tissue) | Biventricular cardiomyopathy | None |
ARVC: arrhythmogenic right ventricular cardiomyopathy; HCM: hypertrophic cardiomyopathy; DCM: dilated cardiomyopathy; RCM: restrictive cardiomyopathy; LVNC: left ventricular non-compaction; AVB: atrioventricular block; SCD: sudden cardiac death; LVEF: left ventricular ejection fraction; RV: right ventricle; HW: heart weight.