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. 2017 Dec 18;12(12):e0189489. doi: 10.1371/journal.pone.0189489

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.

†† Classification according to Task Force Criteria [13] and consideration of the modified pediatric criteria [14]. For pedigrees see S2 Fig.