Research Article

Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia

Table 1

Demographic and clinical characteristics.

CharacteristicsAll 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).