Table 1.
Phenotypic and Genetic Data for Families with Dilated Cardiomyopathy
| Pedigree (Country of origin) |
Age at Diagnosis (y) |
Age at Evaluation (y) (Indication) |
LVID (mm) |
LVEF (%) |
ECG, Arrhythmia |
Other Diagnostic Testing |
Treatment | Outcome | Pathology | Diagnosis | RBM20 Mutation Status |
|---|---|---|---|---|---|---|---|---|---|---|---|
| DC-12 (Scotland) | |||||||||||
| II.5 | - | 58(F) | 55/31 | 68 | Normal | None | Alive 58 y | - | Unaffected | Normal | |
| II.9 | 53 | 53(R) | 64/53 | 39 | LVH, PVC | - | Death 58 y | - | DCM | P638L | |
| II.10 | 44 | 45(S) | Severe LVE | LVSD | AF, PVC | D, F | CHF, Death 45 y | Autopsy: congestive myopathy, fibrosis, myocyte hypertrophy, no CAD | DCM | P638L (inferred) | |
| III.2 | 28 | 28(S) | - | - | - | - | SD 28 y | Autopsy: EFE, congestive myopathy, no CAD | DCM | P638L | |
| III.3 | 37 | 37(F) | 62/57 | 15 | LAD, VT | Neg. angio | D, B | Death 41 y | Autopsy: mild fibrosis | DCM | P638L |
| III.5 | - | 30(R) | 40/24 | 64 | Normal | - | Death 38 y | Autopsy: normal LV and cardiac mass, no CAD | Uncertain (suspected arrhythmia) | Normal | |
| III.8 | - | 36(F) | 43/30 | 51 | Normal | None | Alive 39 y | - | Unaffected | Normal | |
| III.9 | 30's | 36(S) | - | - | LBBB | Transplant 36 y | Death 36 y | - | DCM | P638L | |
| III.11 | 33 | 33(F) | 72/62 | 26 | LVH, IVCD | D, C | Alive 42 y | - | DCM | P638L | |
| III.13 | 29 | 29(S) | - | - | - | - | SD 29 y | Autopsy: CM, mild fibrosis, no CAD | DCM | P638L | |
| III.14 | - | 43(F) | 51/36 | 50 | Normal | None | Alive 46 | - | Unaffected | Normal | |
| III.15 | 24 | 25(F) | 88/79 | 15 | LVH, IVCD | Transplant 26 y | Death 27 y | - | DCM | P638L | |
| III.16 | 14 | 14(F)→22 | 57/41→57/41 | 48→45 | Short PR, SVT | D, So | Alive 24 y | - | DCM | P638L | |
| IV.1 | 3 | 3(F)→12 | 44/30→62/40 | 50→64 | Short PR, LVH | D, L | Alive 12 y | - | DCM | P638L | |
| DC-35 (Norway) | |||||||||||
| III.1 | 55 | 55(F) | 47/39 | 46 | PAC | Neg. stress imaging | - | Alive 58 y | - | DCM | R634Q |
| III.6 | 45 | 45(S)→55 | 70/- →60/50 | 10→30 | LAE, IVCD, ST-T | Neg. angio | D, Cv, L, Sp, W, ICD (EF, FH) | Alive 55 y | - | DCM | R634Q |
| III.7 | - | 60(F) | 44/29 | 60 | Normal | None | Alive 62 y | - | Unaffected | Normal | |
| III.8 | - | 60(F) | 39/29 | 60 | - | None | Alive 60 y | - | Unaffected | Normal | |
| III.9 | - | 52(F) | Normal | 65 | Normal | None | Alive 56 y | - | Unaffected | Normal | |
| III.10 | - | 51(HTN) | 44/28 | 67 | - | None | Alive 52 y | - | Unaffected | Normal | |
| III.11 | 55 | 55(S) | 72/63 | 20 | Short PR, IVCD, ST-T, VT | D, Cv, L, ICD (EF, FH, VT) | Alive 55 y | - | DCM | R634Q | |
| III.12 | 47 | 47(A) | - | - | - | - | Death 47 y | Autopsy: CM and LV dilation | DCM | - | |
| III.14 | 46 | 52(F) | 63/51 | 30 | - | -, ICD (EF, FH) | Alive 52 y | - | DCM | R634Q | |
| III.15 | - | 51 (F) | 54/27 | 55 | - | None | Alive 51 y | - | Unaffected | Normal | |
| III.17 | 48 | 48(F) | 61/44 | 45 | IVCD, ST-T, VT | Neg. angio | M, L, ICD (FH) | Alive 49 y | - | DCM | R634Q |
| IV.1 | 50 | 50(S) | 64/55 | 20 | LAD, LAE, ST-T | Neg. angio | Cv, L | Alive 52 y | - | DCM | R634Q |
| IV.2 | 37 | 37(S) | Severe LVE | 15 | LAE, LAD | Neg. angio, CK 102 U/L | D, E, W | CHF, Death 37 y | Biopsy: Myocyte hypertrophy, mild fibrosis | DCM | - |
| IV.3 | - | 44(F) | 56/36 | 65 | Normal | None | Alive 48 y | - | Uncertain | Normal | |
| IV.4 | - | 44(F) | 51/32 | 52 | Normal | None | Alive 46 y | - | Unaffected | Normal | |
| IV.5 | 40 | 40(F) | 56/43 | 40 | Normal | Neg. stress imaging; CK 70 U/L, cTnI <0.3 ng/ml | M, L | Alive 44 y | - | DCM | R634Q |
| IV.6 | - | 24(F) | 54/35 | 58 | Normal | Neg. stress imaging | None | Alive 27 y | - | Uncertain | R634Q |
| IV.7 | - | 23(F) | 39/27 | 65 | - | None | Alive 23 y | - | Unaffected | Normal | |
| IV.8 | 18 | 18(F) | 61/51 | 37 | IVCD, LVH | Neg. angio | Cv, L, ICD (FH, EF) | Alive 19 y | - | DCM | - |
| IV.9 | 30 | 30(R) | 63/45 | 42 | Normal | - | Alive 30 y | - | DCM | R634Q | |
| IV.10 | 24 | 24(R) | 59/46 | 45 | LVH | - | Alive 24 y | - | DCM | R634Q | |
| DC-50 (Germany) | |||||||||||
| II.3 | 49 | 52(S)→60 | 68/62→71/65 | 17→15 | LVH, ST-T, AF, VT, VF | Neg. angio, CK 43 U/L, cTnI <0.5 ng/ml | D, F, P, C, A, W, ICD (Sy, FH) | CHF, Death 60 y | Autopsy: sev. CM, mild fibrosis | DCM | P638L |
| II.5 | 29 | 29(S) | - | - | ST-T, VT, VF | CK 29 U/L | D, P, PC | CHF, Death 29 y | - | DCM | P638L (inferred) |
| III.3 | 25 | 25(R)→42 | 55/45→51/- | 33→40 | LVH | D, Cv, L | Alive 42 y | - | DCM | P638L | |
| III.4 | 29 | 29(R)→44 | 45/35→52/38 | 40→49 | ST-T | Cv, E | Alive 44 y | - | DCM | P638L | |
| III.5 | 15 | 15(S) | 75/68 | 18 | LVH, ST-T, VT | D, L, W, N, Mx | CHF, SD 18 y | Biopsy: myocyte hypertrophy, mild fibrosis | DCM | - | |
| III.6 | - | 29(R) | 51/28 | 70 | Normal | None | Alive 46 y | - | Unaffected | Normal | |
| III.7 | - | 27(R) | 50/32 | 60 | Normal | None | Alive 36 y | - | Unaffected | Normal | |
| III.8 | 21 | 27(R)→37 | 54/40→56/46 | 51→35 | Short PR, SVT | Cv, L | Alive 38 y | - | DCM | P638L | |
| IV.1 | 17 | 17(S) | 51/40 | 40 | LVH, SVT | M, E | Alive 22 y | - | DCM | P638L | |
| DC-46 (Germany) | |||||||||||
| IV.1 | 26 | 18(F)→26 | 53/36→56/46 | 58→30 | ST-T | cTnT <0.03 ng/ml | Cv, L, ICD (EF, FH) | Alive 27 y | - | DCM | R636S |
| DC-49 (Germany) | |||||||||||
| II.2 | 40 | 40(S)→45 | 71/64→65/52 | 10→20 | LVH, ST-T, IVCD, VT | D, M, L, Sp, F, W, Mx, ICD (CA) | Alive 45 y | - | DCM | R636H | |
| II.3 | 39 | 39(F)→44 | 63/49→52/42 | 43→45 | VT | Neg. angio | Cv, Rm, Cn | Alive 44 y | - | DCM | R636H |
| DC-27 (Norway) | |||||||||||
| II.6 | 70 | 80(S) | 63/- | 25 | SB, AF | D, Cv, L, F, W | CHF, Death 85 y | - | DCM | R636S | |
| III.2 | - | 64(F) | 55/40 | 50 | IRBBB | Cv | Alive 64 y | - | Uncertain | R636S | |
| III.3 | 59 | - | - | - | None | SD 59 y | Autopsy: CM, LVE, CAD but no acute MI, fibrosis | DCM | R636S (inferred) | ||
| III.5 | 55 | 59(F) | 59/44 | 44 | 1° AVB, RBBB, VT | Neg. angio | Cv | Alive 60 y | - | DCM | R636S |
| III.8 | - | 50(F) | 45/- | 60 | Normal | None | Alive 55 y | - | Unaffected | Normal | |
| III.10 | - | 39(F) | 54/38 | 55 | - | None | Alive 47 y | - | Uncertain | R636S | |
| IV.1 | 35 | 35(S) | 68/55 | 38 | LVH, ST-T | Neg. angio | Cv, L | Alive 36 y | - | DCM | R636S |
| IV.5 | 27 | 36(S) | 72/65 | 23 | LAD, IVCD, ST-T | Neg. anglo | Cv, Ln | Alive 37 y | Biopsy: myocyte hypertrophy, mod. fibrosis | DCM | R636S |
| IV.7 | - | 28(R) | 50/33 | 66 | Normal | None | Alive 31 y | - | Unaffected | Normal | |
| IV.9 | - | 15(F) | 52/34 | 57 | Normal | None | Alive 18 y | - | Uncertain | R636S | |
| DC-09 (Norway) | |||||||||||
| III.2 | 57 | 57(R)→68 | 58/46→59/49 | 35→34 | Short PR, PVC | D, E, F,A | Alive 68 y | - | DCM | R636S | |
| III.4 | - | - | - | - | - | Neg. angio | - | Alive 68 y | - | DCM (by history) | R636S |
| IV.2 | 17 | 17(S) | 68/60 | 22 | LVH, ST-T | D, H, N, F, W | CHF, SD 18 y | - | DCM | - | |
| IV.3 | - | 27(R) | 50/32 | 60 | Normal | None | Alive 38 y | - | Unaffected | R636S | |
| IV.4 | - | 24(R) | 53/33 | 61 | Normal | None | Alive 36 y | - | Unaffected | Normal | |
| IV.6 | 19 | 20(S) | - | - | - | Transplant 20 y | Alive 43 y | - | DCM | R636S | |
| DC-22 (England) | |||||||||||
| II.2 | 44 | 45(S) | 53/44 | 25 | ST-T, VT | Neg. angio | D, F, A, Cv, Ln, ICD (EF, FH) | CHF, Alive 54 y | - | DCM | S637G |
| II.3 | 27 | 27(S) | - | - | - | Transplant 32 y | Alive 49y | DCM | S637G | ||
| III.1 | 21 | 21(F) | 53/39 | 35 | ST-T | Cv, L | Alive 28 y | - | DCM | S637G | |
| III.2 | 20 | 20(F) | 48/34 | 46 | Short PR | Neg. stress imaging | Cv | Alive 23 y | - | DCM | S637G |
Indication for evaluation: F, family history; S, symptoms; R, research study; HTN, hypertension; A, autopsy
Echocardiography: LVE, left ventricular enlargement; LVEF, left ventricular ejection fraction (normal ≥50%); LVID, left ventricular internal dimension in diastole/systole (measurements greater than the 95th percentiles, based on body surface area and age, indicated by bold font); LVSD, left ventricular systolic dysfunction
Electrocardiogram, Arrhythmia: 1° AVB, first degree atrioventricular block; AF, atrial fibrillation; IRBBB, incomplete right bundle branch block; IVCD, intraventricular conduction delay; LAD, left axis deviation; LAE, left atrial enlargement; LBBB, left bundle branch block; LVH, left ventricular hypertrophy; PAC, premature atrial contractions; PR, PR interval; PVC, premature ventricular contractions; SB, sinus bradycardia; ST-T, nonspecific ST-T wave changes; SVT, supraventricular tachycardia; VF, ventricular fibrillation; VT, ventricular tachycardia
Other diagnostic testing: CK, creatine kinase; cTnI, cardiac troponin I; cTnT, cardiac troponin T; Neg. angio, no significant coronary artery disease on angiography
Treatment: A, amiodarone; B, benazepril; C, captopril; Cn, candesartan; Cv, carvedilol; D, digoxin; E, enalapril; F, furosemide; H, hydralazine; ICD, implantable cardioverter defibrillator; L, lisinopril; Ln, losartan; M, metoprolol; Mx, mexiletine; N, nitroglycerin; P, propranolol; PC, procainamide; Rm, ramipril; So, sotalol; Sp, spironolactone; Transplant, cardiac transplantation; W, warfarin
Indication for ICD (in parentheses): Sy, syncope; FH, family history; EF, ejection fraction; CA, cardiac arrest; VT, ventricular tachycardia
Outcome: CHF, congestive heart failure; SD, sudden death
Pathology: Sev., severe; CAD, coronary artery disease; CM, cardiomegaly; EFE, endocardial fibroelastosis; MI, myocardial infarction; mod., moderate
-, data not available or applicable