Table 1 Clinical features of THSD4 variant carriers in TAAD families.
Family/variation p. notation/ variation c. notation | Patient | Sex | Variation status | Age at diagnosis/ height/weight | Aortic status | Other vascular manifestations | Other clinical manifestations | |
|---|---|---|---|---|---|---|---|---|
Family 1: TAA-1889 p.(Leu247*) c.740del | Proband II.6 | M | +/ - | 43 years/1m86/115 kg | Type A aortic dissection; aortic diameter prior to dissection NA | None | Mild pectus excavatum, dolichostenomelia, high-arched palate | |
Brother II.4 | M | NA | Died at 53 years/1m85/NA | Aortic diameter NA | None but CAD | NA | ||
Mother I.2 | F | +/ - | 75 years/NA/NA | Ascending aortic replacement; aortic diameter NA | None | COPD, lymphoma, arthritis | ||
Son III.5 | M | - / - | 24 years/NA/NA | No aortic dilatation | None | None | ||
Son III.6 | M | - / - | 25 years/NA/NA | No aortic dilatation | None | None | ||
Brother II.2 | M | - / - | 61 years/1m83/130 kg | AoR: 45 mm (Z = 1.5 SD); AAo: 46 mm (Z = 2.8 SD) (tubular dilation remained stable during a 3-year period after treatment of high blood pressure) | None | None | ||
Family 2: TAA-1839 p.(Ala468Glnfs*45) c.1402del | Proband II.2 | F | +/ - | 48 years/1m70/77 kg | AoR: 42 mm (Z = 3.2 SD); AAo: 47 mm (Z = 4.7 SD) | None | Dolichostenomelia, hypertelorism, arthritis | |
Daughter III.3 | F | +/ - | 16 years/1m70/68 kg | AoR: 28 mm (Z = 0.7 SD); AAo: 32 mm (Z = 3.0 SD) mild aortic regurgitation | None found but tortuosity | Scoliosis | ||
Sister II.3 | F | +/ - | 46 years/1m80/70 kg | AoR: 33 mm (Z = 0.9 SD); AAo: 36 mm (Z = 2.3 SD) | None | None | ||
Mother I.2 | F | - / - | 75 years/NA/NA | AoR: 37 mm | NA | NA | ||
Father I.1 | M | +/ - | 80 years/NA/NA | NA | NA | NA | ||
Family 3: TAA-1850 p.(Asp46_Gly48dup) c.137_145dup | Proband II.3 | M | +/ - | 39 years/1m77/93 kg | AoR: 48 mm (Z = 4.0 SD); AAo: 35 mm (Z = 1.6 SD) | CAD (MI at 39 years) | Hypercholesterolemia, hypertension, active smoker | |
Daughter III.1 | F | - / - | 16 years/1m67/NA | AoR: 30 mm (normal) | None | None | ||
Daughter III.2 | F | - / - | 12 years/NA/NA | No aortic dilatation | None | None | ||
Son III.3 | M | - / - | 17 years/NA/NA | AoR: 32 mm; AAo: 26 mm (normal) | None | None | ||
Brother II.4 | M | +/ - | 44 years/1m82/NA | Aortic dissection at 42 years (dilatation of the AAo present prior to dissection) | NA | NA | ||
Father I.1 | M | +/ - | 68 years/1m81/NA | Aortic diameter NA operated for aortic dilatation of AAo and abdominal aorta | NA | NA | ||
Family 4: TAA-1817 p.(Tyr321Asn) c.961T>A | Proband | F | +/ - | 64 years/1m67/56 kg | AoR: 44 mm (Z = 3.9 SD); Bentall surgery for aortic regurgitation at 61 years | None | Spontaneous pneumothorax | |
Daughter | F | +/ - | 25 years/1m78/62 kg | AoR: 30 mm (Z = 0.8 SD); AAo: 29 mm (Z = 1.3 SD) | None | None | ||
Family 5: TAA-1819 p.(Arg781Trp) c.2341C>T rs767807136 | Proband | M | +/ - | 57 years/NA/NA | AoR: 50 mm (electively replaced) bicuspid aortic valve, hypertension | Raynaud syndrome | None | |
Brother | M | - / - | 84 years/NA/NA | Aortic diameter NA no clinical manifestation of TAA | None | None | ||
