TABLE 1.
Clinical, Cellular, and Molecular Genetic Characteristics of Family Members
| Ped No. |
Sxs onset (yrs) |
Cardiac Sxs* |
Myopathy Sxs† |
Initial eval (yrs) |
AF onset (yrs) |
Pace maker (yrs) |
ECG∥ | Cardiac phenotype |
Emerin positive nuclei |
Emerin Lys37del genotype |
|---|---|---|---|---|---|---|---|---|---|---|
| IV.3 | teens (brady) | 2 | none | 73 | 70 | DDDR (73) | A-V pacing | SND, PAF | 4% | +/ |
| IV.8 | teens (faint) | 1,3 | none‡ | 44 | 44 | VVIR (44) | SB@53, NVT | SND, PAF | – | +/ |
| V.1 | – | none | none | 62 | – | – | NSR | Normal | 96% | −/− |
| V.2 | teens (palp) | 1,2 | none§ | 33 | 40 | VVIR (40) | SB@35 | SND, CAF | 1% | +/ |
| V.6 | – | none | none | 49 | – | – | NSR | Normal | 98% | −/ |
| V.9 | teens (brady) | 1,2 | none | 42 | 41 | DDDR (42) | AF, NVT | SND, CAF | 0% | +/ |
| V.10 | 30’s | 1,2 | none | 49 | – | – | SB@46 | SB | 71% | +/− |
| V.14 | 28 | 1,3 | none | 28 | – | – | NSR, PACs | Palp | 62% | +/− |
| VI.1 | 31 | 1,2 | none | 31 | – | – | NSVT | NSVT | 63% | +/− |
| VI.2 | 31 | 1 | none | 31 | – | – | NSR | Palp | 53% | +/− |
1, palpitations; 2, irregular pulse; 3, syncope.
Stiffness, weakness, or difficulty walking.
Normal lower extremity electromyography and exam by neurologist at age 66 years for chronic back pain; worked as farmer, shingled roofs, and climbed silos into his sixties.
Normal exam by neurologist at age of 33 and 46 years for dizziness; worked as farmer and construction worker.
Including ambulatory electrocardiographic and event monitor recordings.
+ / = hemizygous male; −/ = normal male; +/− = heterozygous female; −/− = normal female.
A-V = atrioventricular; brady = bradycardia; CAF = chronic AF; eval = evaluation; NSR = normal sinus rhythm; NSVT = non-sustained supraventricular tachycardia; NVT = nonsustained ventricular tachycardia; PACs = premature atrial complexes; PAF = paroxysmal AF; palp = palpitations; Ped = pedigree; SB = sinus bradycardia; Sxs = symptoms.