Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia
Table 1
Demographic and clinical characteristics.
Characteristics
All patients ()
21 ()
>21 ()
value
Age, mean (SD)
26.12 (16.40)
13.56 (4.97)
37.94 (14.45)
Female, % ()
51.5 (17)
68.75 (11)
35.29 (6)
0.084
LDL (mg/dL), mean (SD)
447.45 (151.2)
513.40 (114)
385.30 (158.31)
0.016
HDL (mg/dL), mean (SD)
45.43 (26.88)
46.94 (33.26)
44.02 (20.10)
0.87
Genetically homozygous, % (N)
57.58 (19)
68.75 (11)
47.06 (8)
0.30
Apheresis, % (N)
72.73 (24)
62.50 (10)
82.35 (14)
0.26
Xanthoma, % (N)
93.94 (31)
93.75 (15)
94.12 (16)
1
Xanthelasma, % (N)
39.39 (13)
25 (4)
52.94 (9)
0.16
Arcus senilis, % (N)
42.42 (14)
37.50 (6)
47.60 (8)
0.73
IMT, mean (SD)
0.87 (0.57)
0.67 (0.45)
1.06 (0.62)
0.084
Reduced ABI, % (N)
18.18 (6)
6.25 (1)
29.41 (5)
0.17
Clinical CVD, % (N)
21.21 (7)
0 (0)
41.18 (7)
0.0072
Valvulopathy, % (N)
63.6 (21)
33.33 (7)
82.35 (14)
0.032
Aortic valve disease, % (N)
63.63 (21)
43.75 (7)
82.35 (14)
0.032
Calcification, % (N)
36.36 (12)
12.50 (2)
58.82 (10)
0.01
Root thickening, % (N)
42.42 (14)
25 (4)
58.82 (10)
0.08
Regurgitation, % (N)
24.24 (8)
12.50 (2)
35.29 (6)
0.22
Stenosis, % (N)
39.39 (13)
37.50 (6)
41.18 (7)
1
Mitral valve regurgitation, % (N)
21.21 (7)
12.50 (2)
23.53 (4)
0.66
LDL: low-density lipoprotein cholesterol; HDL: high-density lipoprotein; ABI: ankle-brachial index; IMT: intima-media thickness; CVD: cardiovascular disease. Reduced ABI was defined as any ABI (among right or left dorsalis pedis or posterior tibialis) that is ≤0.9. Valvulopathy includes patients with calcifications/aortic root thickening only (, 12.1% of the cohort) or valvular stenosis or regurgitation with or without calcifications (, 51.5% of the cohort).