Table 3.
Clinical information on the TTNtv and DSC2 loss-of-function carriers in the AF families
Family | Pedigree ID | Sex | AF onset age | Age | Comorbidities/risk factors for AFa | ECHO, at AF diagnosis or earliest available | ECHO, latest available | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LVDD (mm) | LA (mm) | LVEF(%) | Years from AF diagnosis | LVDD (mm) | LA (mm) | LVEF(%) | Years from AF diagnosis | ||||||
E003 | II-2 | M | 42 | 62 | Nb | Sdb | 40–45c | 16 | Nb | 40 | 55 | 18 | |
E003 | II-5 | F | 58 | 71 | HTN, HT | Nb | 45 | Nb | 4 | Nb | Sdb | Nb | 10 |
E003 | III-4 | M | 37 | 47 | NIDCM | 67 | 57 | 15 | 0 | 70 | 56 | 30–35 | 8 |
M1023 | II-4 | F | 63 | 71 | Nb | Nb | 35c | 0 | 60 | 32 | 25c | 7 | |
M1023 | III-1 | M | 40 | 50 | NIDCM | 67–71 | 51 | 20 | 3 | 54 | 44 | 43c | 11 |
M1023 | III-3 | F | 25 | 52 | 49 | 38 | 66 | 22 | 56 | 44 | 25c | 27 | |
M1018 | III-1 | M | 65 | 69 | Multid | Sdb | Sdb | Nb | 0 | Mild CLVHb | Db | 60 | 3 |
M1018 | IV-2 | M | 28 | 38 | HTN | Nb | Nb | Nb | 0 | Nb | Nb | Nb | 0 |
M1018 | IV-3 | M | 31 | 40 | Nb | 34 | Nb | 0 | Nb | Nb | 60 | 7 | |
M1039 | III-2 | M | 23 | 50 | Nb | Nb | Nb | 16 | 55 | Nb | 60 | 24 | |
M1039 | III-3 | M | 39 | 51 | NIDCM | Sdb | N.A. | 30c | 5 | Moderat Db | Nb | 50–55 | 8 |
M1039 | III-5 | M | 25 | 37 | Nb | Nb | Nb | 9 | Nb | Nb | 60 | 11 | |
M1030 | III-4 | M | 49 | 63 | HCL | Nb | Db | Nb | 0 | Nb | Db | Nb | 0 |
M1030 | III-7 | F | 50 | 72 | Mild H | Mild Db | Nb | 10 | Mild H | Mild Db | Nb | 0 | |
M1030 | IV-5 | M | 41 | 46 | 52 | 43 | Nb | 0 | 52 | 43 | Nb | 0 |
AF: atrial fibrillation, LVDD: left ventricular diastolic diameter, LA: left atrial diameter, LVEF(%): left ventricular ejection fraction (%), D: dilated, H: hypertrophy, HT: hyperthyroidism, HTN: hypertension, HCL: hypercholesterolemia, NIDCM: nonischemic dilated cardiomyopathy, M/F: male/female, N: normal, Sd: severely dilated, CLVH: concentric left ventricular hypertrophy, TTN: titin, TTNtv: titin-truncating variants, DSC2: desmocollin 2, N.A.: not available, ECHO: echocardiography
aDiagnosed before or within 12 months after the AF diagnosis
bExact values not provided
cDuring AF
dHypertension, stroke, aortic-, and mitral prolapse and regurgitation (biological aortic valve and mitral valve repair), dilated LV