Table 1.
Phenotypic and genetic data for patients included in the original and validation cohorts
| Patients | Agea | Sex | Ib | IIc | IIId | IVe | Vf | VIg | Total (major, minor) | Diagnosis | Biomarker | Therapyh | PVCi | Geneticsj |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HCG001 | 15 | M | 1,0 | 0,0 | 0,0 | 0,1 | 0,1 | 0,0 | 1,2 | ARVC | Yes | Nadolol | 2600k | No Mutl |
| HRC0168 | 12 | M | 0,1 | 0,0 | 0,0 | 0,0 | 0,1 | 1,0 | 1,2 | ARVC | Yes | Levothyroxin | 921 | DSC2 |
| HRC0160 | 34 | F | 1,0 | 0,0 | 0,0 | 0,0 | 0,0 | 1,0 | 2,0 | ARVC | Yes | Bisoprolol | 0k | No Mut |
| HRC0118 | 34 | F | 1,0 | 0,0 | 1,0 | — | — | 1,0 | 3,0 | ARVC | Yes | Metoprolol, Sotalol | 854 | PKP2 |
| HRC0101 | 37 | F | 1,0 | 0,0 | 1,0 | — | 0,0 | 0,1 | 2,1 | ARVC | Yes | Bisoprolol | 114k | No Mut |
| HRC0099 | 17 | F | 1,0 | 0,0 | 1,0 | 0,0 | —,1 | 1,0 | 3,1 | ARVC | Yes | Nadolol | 10 266 | PKP2 |
| HRC0098 | 54 | F | 1,0 | 0,0 | 0,0 | 0,0 | 0,0 | 1,0 | 2,0 | ARVC | Yes | — | — | PKP2 |
| HRC0085 | 13 | M | 0,1 | 0,0 | 0,0 | 0,1 | 0,0 | 1,0 | 1,2 | ARVC | Yes | — | PKP2 | |
| HRC0084 | 16 | F | 1,0 | 0,0 | 1,0 | 0,0 | 0,1 | 1,0 | 3,1 | ARVC | Yes | Atenolol | 3091 | PKP2 |
| HRC0083 | 37 | M | — | 0,0 | 0,1 | 0,1 | — | 1,0 | 1,2 | ARVC | Yes | Sotalol, L-thyroxin | — | DSP |
| HRC0179 | 46 | F | 1,0 | — | 1,0 | 0,1 | 0,1 | 1,0 | 3,2 | ARVC | Yes | — | 667 | PKP2 |
| HRC0066 | 42 | F | 1,0 | — | 1,0 | 0,0 | 0,1 | — | 2,1 | ARVC | Yes | None | 9126 | — |
| HRC0159 | 9 | M | 0,0 | 0,0 | 0,0 | 0,1 | 0,0 | 1,0 | 1,1 | Bord.m ARVC | Yes | None | 0 | No Mut |
| HRC0086 | 37 | F | — | 0,0 | 0,0 | 1,0 | 0,0 | 1,0 | 1,1 | Bord. ARVC | No | — | PKP2 | |
| HRC0090 | 11 | F | 0,0 | 0,0 | 0,0 | 0,1 | — | 1,0 | 1,1 | Bord. ARVC | Yes | None | 0 | DSG2 |
| HRC0174 | 44 | M | 0,0 | 0,0 | 0,0 | 0,1 | 0,0 | 1,0 | 1,1 | Bord. ARVC | Yes | None | 26 | PKP2 |
| HRC0189 | 12 | M | 0,1 | — | 0.0 | 0,0 | 0,0 | 1,0 | 1,1 | Bord. ARVC | Yes | None | 1 | No Mut |
| HRC0109 | 15 | M | 0,0 | 0,0 | 0,0 | 0,1 | 0,0 | 1,0 | 1,1 | Bord. ARVC | Yes | None | 0 | No Mut |
| HRC0108 | 40 | M | 0,0 | 0,0 | 0,1 | 0,0 | 0,0 | 1,0 | 1,1 | Bord. ARVC | Yes | None | — | No Mut |
| HRC0087 | 36 | F | — | — | — | 0,1 | 0,0 | 1,0 | 1,1 | Bord. ARVC | Yes | — | 0 | No Mut |
| ZH-001 | 60 | M | 1,0 | 0,0 | 1,0 | 0,1 | 0,1 | 1,0 | 3,2 | ARVC | Yes | Amiodarone | 124k | DSG2 |
| ZH-007 | 64 | M | 1,0 | 0,0 | 1,0 | 0,1 | 1,0 | 0,0 | 3,1 | ARVC | Yes | Betablocker, Amiodarone | 238k | No Mut |
| ZH-013 | 50 | M | 1,0 | 0,0 | 1,0 | 1,0 | 0,1 | 1,0 | 4,1 | ARVC | Yes | Betablocker, Amiodarone | 1673k | PKP2 |
| ZH-015 | 26 | M | 1,0 | 0,0 | 1,0 | 0,0 | 0,1 | 1,0 | 3,1 | ARVC | Yes | Sotalol | 2511k | PKP2 |
| ZH-016 | 46 | M | 1,0 | 1,0 | 0,1 | 1,0 | 0,1 | 0,0 | 3,2 | ARVC | Yes | Sotalol, ACE-I/ARB, Aldosterone antagonist | 90 | TTN |
| ZH-017 | 52 | M | 1,0 | 0,0 | 0,1 | 0,1 | 1,0 | 0,0 | 2,2 | ARVC | Yes | Betablocker | 13k | No Mut |
| ZH-019 | 28 | M | 1,0 | 0,0 | 1,0 | 0,0 | 0,1 | 0,0 | 2,1 | ARVC | Yes | Betablocker | 7899k | DSG2 |
| ZH-025 | 60 | M | 1,0 | 1,0 | 0,1 | 0,0 | 0,0 | 1,0 | 3,1 | ARVC | Yes | Betablocker; Amiodarone | <500 | DSP |
| ZH-027 | 53 | F | 1,0 | 0,0 | 0,0 | 0,1 | 0,1 | 1,0 | 2,2 | ARVC | Yes | N/A | 8769k | PKP2 |
| ZH-028 | 59 | M | 1,0 | 0,0 | 0,0 | 0,1 | 0,1 | 1,0 | 2,2 | ARVC | Yes | Betablocker; ACE-I/ARB, Aldosterone antagonist | 92k | DSP |
| ZH-038 | 54 | M | 1,0 | 0,0 | 0,1 | 1,0 | 0,1 | 0,0 | 2,2 | ARVC | Yes | None | 138 | No Mut |
| ZH-051 | 43 | M | 1,0 | 0,0 | 1,0 | 1,0 | 1,0 | 0,0 | 4,0 | ARVC | Yes | None | 2203 | TTN, SCN5A |
| ZH-053 | 44 | M | 1,0 | 0,0 | 0,1 | 0,0 | 1,0 | 0,0 | 2,1 | ARVC | Yes | None | 6275k | LMNA |
| ZH-081 | 66 | F | 1,0 | 0,0 | 1,0 | 0,0 | 0,0 | 1,0 | 3,0 | ARVC | Yes | Betablocker, ACE-I/ARB | <500k | DSC2 |
| ZH-087 | 62 | F | 1,0 | 0,0 | 1,0 | 0,0 | 0,1 | 1,0 | 3,1 | ARVC | Yes | Betablocker | 1063k | No Mut |
| ZH-092 | 52 | F | 1,0 | 0,0 | 1,0 | 0,0 | 1,0 | 1,0 | 4,0 | ARVC | Yes | Sotalol | 901k | PKP2 |
| ZH-101 | 26 | M | 1,0 | 0,0 | 0,0 | 0,0 | 0,1 | 1,0 | 2,1 | ARVC | Yes | None | 1373k | PKP2 |
| ZH-102 | 20 | F | 1,0 | 0,0 | 1,0 | 0,0 | 1,0 | 1,0 | 4,0 | ARVC | Yes | None | 2005k | DSG2 |
| ZH-107 | 74 | M | 1,0 | 0,0 | 1,0 | 0,0 | 0,1 | 0,0 | 2,1 | ARVC | Yes | Amiodarone, ACE-I/ARB, Aldosterone antagonist | 209k | No Mut |
| ZH-121 | 45 | F | 1,0 | 0,0 | 1,0 | 1,0 | 1,0 | 0,0 | 4,0 | ARVC | Yes | Betablocker. Amiodarone | 26k | No Mut |
| ZH-123 | 51 | M | 1,0 | 0,0 | 0,1 | 0,0 | 1,0 | 0,0 | 1,2 | ARVC | Yes | Amiodarone | >500k | RYR2 |
| ZH-148 | 19 | F | 1,0 | 0,0 | 1,0 | 0,0 | 0,1 | 0,0 | 2,1 | ARVC | Yes | Amiodarone | 4499k | SCN5A |
| ZH-206 | 45 | M | 1,0 | 0,0 | 1,0 | 0,1 | 0,1 | 0,0 | 2,2 | ARVC | Yes | Betablocker, Aldosterone antagonist | 11 875k | DSG2 |
| ZH-213 | 38 | M | 1,0 | 0,0 | 1,0 | 0,0 | 1,0 | 1,0 | 4,0 | ARVC | Yes | Sotalol | <500k | DSG2 |
| ZH-222 | 37 | F | 1,0 | 0,0 | 1,0 | 0,0 | 1,0 | 1,0 | 4,0 | ARVC | Yes | Amiodarone | >500k | PKP2 |
Age at time of blood draw.
Global or regional dysfunction and structural alterations.
Tissue characterization of wall.
Repolarization abnormalities.
Depolarization/conduction abnormalities.
Arrhythmias.
Family history.
Medications/therapies patient was on during time of blood draw.
Premature ventricular contractions recorded from 24 h-Holter ECG closest to time of blood draw.
Gene in which mutation has been identified for patient (according to www.arvcdatabase.info, the American College of Medical Genetics and Genomics, and previous literature).
Patient was on medical therapy during Holter from which PVC count was recorded.
No mutations were identified in patient.
Borderline ARVC as defined by meeting one major and one minor criterion, or three minor criteria as defined by the 2010 Task Force Criteria for the diagnosis of ARVC.