Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia

Table 3

Vascular and Valvular Heart Disease in FH Patients Ranked by Age.

Patient ID	Age (years)	LDL (mg/dL)	Genotype	Homozygous	Apheresis (years)	Previously known CVD	IMT	Vascular disease	Valvular heart disease
49	6	603	LDLR C681X	Yes	0		0.4	Plaque
80	7	579	LDLR C681X	Yes	0		0.45
64	8	439	LDLRAP Q136X	Yes	0		0.5
22	9	644	LDLR C681X	Yes	2		0.6
50	10	565	LDLR C681X	No	0		1.45	CS, plaque
61	10	544	LDLR C681X	Yes	0		0.45	CS, plaque
77	10	224	LDLR C681X	No	0		0.45
7	15	451	LDLR C681X	Yes	9		0.55		mild AS (MG 16, PG 33), ART
16	15	387	LDLRAP Q136X	Yes	2		0.55
20	15	500	LDLR C681X	Yes	9		0.6
2	16	455	LDLR C681X	Yes	8		0.55		mild AR, mild AS (MG 10, PG 27)
12	17	558	LDLR C681X	Yes	9		0.5		mild AS (MG 11, PG 26), ART
3	19	652	LDLR C681X	Yes	11		0.55	Plaque	mild AR, mild AS (MG 9, PG 24), mild MR
14	19	420	LDLRAP Q136X	Yes	2		0.5		AoVC
6	20	544	LDLR C681X	Yes	12		2.1	Plaque	mild AS (MG 16, PG 34), ART
11	21	649	LDLR I451T	Yes	10		0.5		mild AS (MG 19, PG 35), mild MR, ART, AoVC
15	24	527	LDLRAP Q136X	Yes	2		0.95	Plaque	mild AS (MG 11, PG 24), ART
8	25	582	LDLRAP Q136X	No	9		0.45
26	25	638	LDLR C681X	Yes	7		1.3	CS, plaque	mild AR
23	27	541	LDLR C681X	Yes	13		1.8	Plaque	mild AR, moderate AS (MG 34, PG 64), AoVC, ART
67	28	390	LDLRAP Q136X	Yes	0	MI	0.45		mild AS, ART
21	29	495	LDLR C681X	Yes	5		1.05		mild AR, ART
75	30	219	LDLR C681X	No	10	Stroke	0.5
25	31	545	LDLR C681X	Yes	8		2.05	CS, plaque	mild AR, moderate AS (MG 40, PG 64), mild MR, AoVC, CMV, ART
66	31	264	LDLRAP Q136X	Yes	0		0.5		AoVC
68	31	245	LDLRAP Q136X	Yes	0		1.5	CS, plaque	mild MR, AoVC
17	32	505	LDLRAP Q136X	Yes	10		0.55		AOVC
1	42	413	LDLR C681X	Yes	9	MI, CEA	2.1	CS, plaque	mild AR, moderate AS (MG 40, PG 64), moderate MR, AoVC, ART
30	46	348	LDLR C681X	Yes	6		0.8	CS, plaque	AoVC, ART
29	57	202	LDLR C681X	Yes	16	MI	0.5	Plaque	mild AS (MG 20, PG 36), AoVC, ART
76	57	158	LDLR C681X	No	7	MI, CEA, stroke	0.5	CS	mild AS, AoVC, CMV, ART
13	65	169	LDLR C681X	No	10	MI, CEA	2	CS, plaque	mild AR, moderate MR, AoVC, CMV, ART

CEA: carotid endarterectomy; MI: myocardial infarction; CS: carotid stenosis; AS: aortic stenosis; ART: aortic root thickening; AR: aortic regurgitation; MR: mitral regurgitation; AoVC: aortic valve calcification; CMV: calcified mitral valve; MG: mean gradient (in mmHg); PG: peak gradient (in mmHg).