Table 1.
Clinical characteristics of the patients.
| Patient |
Age (Yers) |
Gender | Syncope | Embolic Event | Dysmorphic Features | Heart Failure Profile | Arrhythmias and Atrioventricular Conduction Disorders |
EPS/RFA | Pacemaker | LVAD | Death | Family History | NC/C (Echo) |
NC/C (CMR) |
LGE % | Affected Gene | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NYHA/Ross Class |
NTproBNP pg/mL |
LVEF (ECHO) | LVDd mm (z-Score) ECHO |
LVEF (CMR) |
LVEDV mL/BSA (z-Score) |
CMP | Arrhythmias | SCD | |||||||||||||||
| P1 | 1 | F | 0 | 0 | 0 | II | 256.50 | 63 | 32.2 (2) |
N/A | N/A | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 6.3 | N/A | N/A | LAMA4 |
| P2 | 2 | F | 0 | 1 | 0 | IV | N/A | 59 | 28.4 (0.5) |
N/A | N/A | Brady | 0 | 0 | 0 | 1 | LVNC (sister) | Brady (sister, father’s father) | 0 | 3.34 | N/A | N/A | HCN4 |
| P3 | 6 | F | 0 | 0 | 0 | II | 110.80 | 64 | 35.6 (−0.5) |
71 | 73 (0.7) |
Brady | 0 | 0 | 0 | 0 | LVNC (sister) | Brady (sister, father’s father) | 1 | 2.35 | 4.6 | 0 | HCN4 |
| P4 | 11 | F | 0 | 0 | 0 | I | <5.0 | 70 | 46.3 (0.9) |
71.3 | 69.6 (1.2) |
Brady | 0 | 0 | 0 | 0 | LVNC (mother, 2 cousins) | 0 | 0 | 2.22 | 3.0 | 0 | HCN4 |
| P5 | 17 | M | 0 | 0 | 0 | II | 32.95 | 71.5 | 41.1 (0.8) |
63.7 | 125.8 (−1) |
Brady | 0 | 0 | 0 | 0 | LVNC (sister), HCM (father) | Brady (2 sisters) |
0 | 2.4 | 3.73 | 4.7 | HCN4 |
| P6 | 5 | F | 1 | 0 | 0 | II | N/A | 61 | 38 (−0.1) |
N/A | N/A | Brady | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 2.85 | N/A | N/A | MYH7 |
| P7 | 12 | F | 1 | 0 | 0 | II | 68.54 | 50 | 52.2 (2.1) |
54.5 | 103.5 (3) |
Brady | 0 | 0 | 0 | 0 | LVNC (mother) | 0 | 0 | 2.6 | 3.38 | 0 | MYH7 |
| P8 | 6 | F | 0 | 1 | 0 | II | 38.69 | 61 | 37 (0.4) |
56 | 71 (0.9) |
0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2.26 | 2.3 | 0 | PRDM16 |
| P9 | 11 | F | 0 | 0 | 0 | II | 331.20 | 52 | 54.2 (3.6) |
52.4 | 80.9 (1.4) |
0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2.6 | 3.52 | 0 | PRDM16 |
| P10 | 6 | M | 0 | 0 | 1 | IV | 27057.0 | 28 | 36 (3.5) |
N/A | N/A | nsVT | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 3.9 | N/A | N/A | TAFFAZIN |
| P11 | 6 | F | 0 | 0 | 0 | I | 99.89 | 64 | 37.3 (−0.4) |
68 | 68.6 (0.9) |
0 | 0 | 0 | 0 | 0 | HCM (father, father’s sister and father’s mother) | 0 | 1 | 2.7 | 3.09 | 0 | MYH6 |
| P12 | 11 | F | 0 | 0 | 0 | II | 62.91 | 56 | 34 (0.3) |
68.7 | 66.7 (−3.6) |
0 | 0 | 0 | 0 | 0 | 0 | SVT (father’s father) | 0 | 4.4 | 3.76 | 0 | RBM20 |
| P13 | 13 | F | 0 | 0 | 0 | II | 33.30 | 57 | 57 (3.6) |
55.9 | 90.9 (1.8) |
0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3.9 | 5.74 | 0 | ACTN2 |
| P14 | 15 | F | 0 | 0 | 1 | II | 13.32 | 63 | 45 (−0.1) |
74.2 | 77 (0.5) |
WPW, SVT | 1 | 0 | 0 | 0 | 0 | WPW (father’s father) | 0 | 2.22 | 2.46 | 0 | HCCS |
| P15 | 16 | M | 0 | 0 | 0 | II | 131.70 | 59 | 52.3 (3) |
55.6 | 79.5 (−1.5) |
nsVT | 0 | 0 | 0 | 0 | LVNC (father) | 0 | 0 | 2.13 | 2.43 | 0 | TTN |
| P16 | 17 | M | 0 | 0 | 0 | II | 32.73 | 70 | 52.6 (−0.2) |
62.2 | 78.8 (1.1) |
0 | 0 | 0 | 0 | 0 | LVNC (mother, sister, mother’s father) | 0 | 0 | 3.3 | 2.26 | 0 | ACTC1 |
| P17 | 0.2 | F | 0 | 0 | 0 | II | 577.80 | 54 | 23.5 (2.8) |
N/A | N/A | 0 | 0 | 0 | 0 | 0 | LVNC (father) | 0 | 0 | 4.8 | N/A | N/A | 0 |
| P18 | 5 | F | 0 | 0 | 0 | II | 1325.0 | 50 | 42 (2.5) |
61.6 | 76.3 (1.2) |
0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 4.0 | 4.22 | 0 | 0 |
| P19 | 5 | M | 0 | 0 | 0 | II | 65.34 | 63 | 36.4 (0.8) |
53 | 78 (1.1) |
0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3.4 | 2.65 | 0 | 0 |
| P20 | 6 | M | 0 | 0 | 0 | II | 98.64 | 57 | 37.1 (1) |
67.6 | 104.3 (2.1) |
WPW | 0 | 0 | 0 | 0 | 0 | WPW (father’s sister) | 1 | 2.32 | 2.36 | 0 | 0 |
| P21 | 6 | M | 0 | 0 | 0 | II | 118.80 | 53 | 36.6 (0.8) |
54.2 | 54.4 (0) |
0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2.8 | 2.63 | 9.5 | 0 |
| P22 | 8 | M | 0 | 0 | 0 | II | 349.40 | 55 | 37.8 (−0.5) |
48.1 | 56.5 (−0.7) |
0 | 0 | 0 | 0 | 0 | LVNC (mother) | 0 | 0 | 2.13 | 2.39 | 0 | 0 |
| P23 | 10 | F | 0 | 0 | 0 | II | 63.01 | 51 | 32.8 (−1.7) |
71.7 | 61.1 (−1.8) |
SVT | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 2.2 | 3.27 | 7.8 | 0 |
| P24 | 11 | M | 0 | 0 | 0 | II | 38.88 | 63 | 56 (4.6) |
63 | 88.7 (0.9) |
0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 5.14 | 5.07 | 0 | 0 |
| P25 | 13 | F | 0 | 0 | 0 | II | 67.14 | 56 | 51 (2.6) |
58.4 | 83.2 (0.7) |
0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2.22 | 3.45 | 0 | 0 |
| P26 | 13 | M | 0 | 0 | 0 | I | 81.78 | 64 | 51.5 (1.9) |
62.9 | 85.8 (0.9) |
0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2.9 | 2.60 | 0 | 0 |
| P27 | 13 | F | 1 | 0 | 0 | II | 30.07 | 60 | 35.7 (−2) |
72.9 | 60.2 (−1.1) |
0 | 0 | 0 | 0 | 0 | 0 | AVNRT (mother) | 0 | 2.85 | 2.56 | 0 | 0 |
| P28 | 15 | M | 0 | 0 | 0 | II | 73.13 | 53 | 51.8 (2.8) |
N/A | N/A | AV block | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 3.1 | N/A | 0 | 0 |
| P29 | 16 | M | 0 | 0 | 0 | II | 8.76 | 65 | 58 (2.8) |
57.3 | 130 (3) |
Brady, AV block | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3.9 | 2.45 | 3 | 0 |
| P30 | 11 | M | 0 | 0 | 0 | II | 19.04 | 62 | 47.3 (2.3) |
70.2 | 114.1 (1.2) |
Brady, AV block | 0 | 0 | 0 | 0 | LVNC (sister); DCM (father) | Brady (sister, father, father’s father) | 0 | 2.13 | 3.27 | 8 | 0 |
| P31 | 16 | F | 0 | 0 | 0 | II | 91.10 | 55 | 59.5 (2.9) |
54.2 | 122.1 (3.7) |
Brady, AV block | 0 | 0 | 0 | 0 | LVNC (brother); DCM (father) | Brady (brother, father, father’s father) | 0 | 2.06 | 3.91 | 6.7 | 0 |
P1–P31—Patient numbers; AV block—paroxysmal second-/third-degree atrioventricular block; AVNRT—atrioventricular node re-entry tachycardia; Brady—sinus bradycardia; BSA – body surface area; CMP—cardiomyopathy; CMR—cardiovascular magnetic resonance; DCM—dilated cardiomyopathy; EPS—electrophysiology study; HCM—hypertrophic cardiomyopathy; LGE—late gadolinium enhancement; LVAD—left ventricular assist device; LVDd—left ventricular diastolic diameter; LVEDV—left ventricular end-diastolic volume; LVEF—left ventricular ejection fraction; LVNC—left ventricular noncompaction cardiomyopathy; NC/C—noncompacted to compacted myocardial layer ratio; nsVT—non-sustained ventricular tachycardia; NTproBNP—N-terminal pro-brain natriuretic peptide; NYHA—New York Heart Association class; RFA—radiofrequency ablation; SCD – sudden cardiac death; SVT—supraventricular tachycardia; WPW—Wolff–Parkinson–White syndrome; yrs—years; N/A—data are not available; ‘0’—not present; ‘1’—present.