Table 1. Clinical, familial and genetic data of 50 patients with advanced or end stage cardiomyopathy.
Patient ID | Gender | Age at diagnosis (Years) |
Treatment | NYHA*/Task Force classification† | Age at HTxa/VADb | Family history‡ | Affected Genes (ACMG class) |
---|---|---|---|---|---|---|---|
DCM-01 | m | 1 | VAD, HTx | IV | 13a | Sporadic§ | MYH7 (4), MYL2 (4) |
DCM-02 | m | 31 | pre HTxII | III | - | Sporadic | TTN (3) |
DCM-03 | m | 68 | ICD, VAD | III | 69b | Son with DCM | TTN (4), DSC2 (2), TTN (3) |
DCM-04 | m | 30 | HTx | IV | 62a | Mother (61y) died from DCM | TTN (4), DSP (3) |
DCM-05 | m | 11 | HTx | IV | 14 | Older brother with DCM and HTx | TNNC1 (4), TNNC1 (3) |
DCM-06 | m | < 1 | VAD, HTx | IV | <1a | Sporadic | TTN (3) |
DCM-07 | m | 35 | ICD, VAD, HTx | IV | 47a | Cousin with HTx, sister with suspicion of DCM, father and brother died from heart disease, sister with heart disease | LMNA (5) |
DCM-08 | m | 23 | VAD, HTx | IV | 23a | Father with DCM | TTN (3) |
DCM-09 | f | 41 | ICD, AMB | II#,** | - | SCD of father (40y), brother died from heart disease (23y) | DES (5), TTN (3) |
DCM-10 | m | 33 | ICD, HTX | IV | 37 | Mother and aunt with HTx, brother and niece with DCM | DSP (2) |
DCM-11 | m | 36 | ICD, HTx | III-IV | 48a | Two cousins died from SCD | DES (4) |
DCM-12 | m | 18 | ICD, VAD | III-IV | 29b | Sporadic | TTN (4), TNNT2 (3) |
DCM-13 | m | 39 | pre HTxII | I#,** | - | Father with DCM and HTx | LMNA (4), TTN (4) |
DCM-14 | m | 60 | ICD, HTx | III | 63a | Mother and two brothers died from heart disease, sister with DCM and HTx | RBM20 (4), DSP (3) |
DCM-15 | m | 32 | HTx | III | 40a | Son with DCM and HTx, sister with DCM | RBM20 (5), TTN (3) |
DCM-16 | f | 20 | ICD, VAD | III-IV | 32b | Sporadic | TTN (4), TTN (3) |
DCM-17 | m | 14 | ICD,HTx | III | 59 | Father and paternal uncle with SCD | DES (5) |
DCM-18 | f | n.a | ICD, HTx | IV | 52a | Monozygotic twin sister (45y) died from heart disease | LMNA (5) |
DCM-19 | m | 5 | ICD, VAD | IV | 22b | Sporadic | NEXN (4), MYH7 (4) |
DCM-20 | m | 35 | ICD, pre HTx | II-III | - | Father with DCM | TTN (4), DSP (3) |
DCM-21 | f | n.a | ICD, pre HTx | II#,** | - | Father died from DCM, deceased brother with VAD, son and daughter with heart disease | TTN (3) |
DCM-22 | f | 59 | pre HTxII | II#,** | - | Brother with HTx, another brother with VAD | TTN (4) |
DCM-23 | f | n.a. | HTx | IV | 14a | SCD of 2 brothers in childhood, 2 siblings with DCM and HTx in adolescent age | PKP2 (4), LAMA4 (2) |
DCM-24 | f | 30 | VAD | IV | 31b | Sporadic | TTN (3) |
DCM-25 | m | 40 | ICD, pre HTx | II-III | - | SCD of 3 maternal uncles, son with DCM | Unknown |
DCM-26 | f | n.a | HTx | IV | 16a | Sporadic | Unknown |
DCM-27 | m | 38 | VAD, HTx | IV | 53a | Father died from DCM (43y), brother and sister with heart disease | Unknown |
DCM-28 | m | 37 | ICD, VAD, HTx | IV | 52a | SCD of maternal grandmother (60y) | Unknown |
DCM-29 | m | 31 | HTx | IV | 42a | Paternal grandfather (51y) and father (46y) deceased from heart disease | Unknown |
DCM-30 | m | 36 | ICD, pre HTx | II** | - | Sporadic | Unknown |
RCM-01 | f | 12 | VAD, HTx | IV | 13a | Sporadic | MYL3 (3) |
RCM-02 | m | < 1 | VAD | IV | <1b | Sporadic | TNNI3 (4) |
RCM-03 | m | 19 | HTx | IV | 12a | Mother (42y) with muscular dystrophy died from heart disease | CRYAB (5) |
ARVC-01 | m | 14 | ICD | DD††** | Sporadic | PKP2 (5) | |
ARVC-02 | m | 35 | ICD, HTx | DD | 36a | SCD of father, brother with heart disease | MYH7 (3) |
ARVC-03 | m | 67 | ICD | PD | Sporadic | PRKAG2 (3) | |
ARVC-04 | f | 35 | ICD, TAH | DD | 55b | SCD of maternal grandmother and uncle, sister with DCM | PLN (5), MYH6 (3), TTN (2) |
ARVC-05 | f | 45 | ICD, HTx | DD | 47a | Maternal grandfather with SCD | LMNA (4), PKP2 (3) |
ARVC-06 | f | 21 | ICD, HTx | DD | 32a | ARVC with SCD of father and brother | PKP2 (5), PKP2 (3), RYR2 (3), TTN (3) |
ARVC-07 | m | 40 | ICD, HTx | BL | 62a | Paternal great-grandfather and father with heart disease and premature death | DES (3) |
ARVC-08 | m | 16 | ICD, HTx | BL†† | 21a | Sporadic | Unknown |
ARVC-09 | f | 42 | VAD | PD | 45b | Sporadic | Unknown |
ARVC-10 | f | n.a | ICD, HTx | DD | 46a | Two maternal great-uncles with SCD | Unknown |
Abbreviations
a = age at HTx, ACMG class 2 = likely benign, ACMG class 3 = variant of uncertain significance, ACMG class 4 = likely pathogenic, ACMG class 5 = pathogenic, AMB = ambulatory, ARVC = arrhythmogenic right ventricular cardiomyopathy
b = age at VAD, DCM = dilated cardiomyopathy; f = female, FS = fractional shortening, HTx = heart transplantation, ICD = implantable cardioverter defibrillator, ID = identification, m = male, n.a. = not available, RCM = restrictive cardiomyopathy, SCD = sudden cardiac death, TAH = total artificial heart, VAD = ventricular assist device; y = year(s).
*New York Heart Association functional classification of heart failure before VAD or HTx, respectively.
†Classification according Task Force Criteria [13].
‡Familial disposition for cardiomyopathy due to pedigree analysis and anecdotal evidence.
§Sporadic = isolated cases without family history.
IITreated medically.
#Progressive cardiomyopathy with familial disposition due to pedigree analysis or anecdotal evidence, respectively.
**Not yet listed for HTx but in the long term surveillance program.