Table 2.
ID | Variants | Age, gender | Age at onset | Clinical diagnosis | Family history | NYHA | %FS | %EF | Comments | PolyPhen-2 | SIFT | PANTHER |
---|---|---|---|---|---|---|---|---|---|---|---|---|
H558307 Caucasian | c.59A>G Y20C | 58 years, male | 52 years | DCM, AF | No | I | 14 | Holter-salvo VT 7 bts | Damaging: 0.998 | 0.15 | Deleterious: 0.5 | |
MC31379 Caucasian | c.637A>G p.I213V + c.2546G>A p.A882T | 35 years, female | 6 weeks | DCM | Yes, sibling of 31380 (+) MYH7 c.2447T>G, p.W816G | I | 25 | 47 | Treatment: lesinopril and metoprolol | Benign: 0.004 | 0.5 | Non |
Benign: 0.025 | 0.39 | Non | ||||||||||
JC31380 Caucasian | c.1016A>T p.Y339F | 38 years, female | 9 years | DCM | Yes, sibling of MC31379 (+) MYH7 c.2447T>G, p.W816G | I | — | 44 | Treatment: metoprolol | Damaging: 0.999 | 0.14 | Deleterious: −3.8114 |
KA22974 Caucasian | c.1933A>G p.A611T | 10 years, male | At birth | DCM, LVNC | Yes | I | 28 | 46 | Hypertrophic LV | Benign: 0 | 0.54 | Non |
16017 Caucasian | c.2546G>Ap.A882T | 27 years, female | 11 years | DCM | Yes | III | 21 | Mother had heart transplant | Benign: 0.025 | 0.39 | Non | |
08V3294 Caucasian | c.2862C>A p.F954L | 17 years, female | 13 years | DCM | Yes | III | 9 | 15 | Damaging: 0.962 | 0.65 | Deleterious: −3.19 |
Seven variants were found in patients with DCM. Variant p.Y20C was associated with DCM and HCM phenotypes in humans. Siblings MC31379 and JC31380 were carriers of missense variant in MYH7. Patient MC31379 had compound heterozygote variants in the MYPN gene. AF, atrial fibrillation; LVNC, left ventricular non-compaction; LNSVT, non-sustained ventricular tachycardia; NYHA, New York Heart Association; %FS, percent fractional shortening; %EF, percent ejection fraction; Non, non-deleterious.