Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)

Hsu, Ting-Rong; Sung, Shih-Hsien; Chang, Fu-Pang; Yang, Chia-Feng; Liu, Hao-Chuan; Lin, Hsiang-Yu; Huang, Chun-Kai; Gao, He-Jin; Huang, Yu-Hsiu; Liao, Hsuan-Chieh; Lee, Pi-Chang; Yang, An-Hang; Chiang, Chuan-Chi; Lin, Ching-Yuang; Yu, Wen-Chung; Niu, Dau-Ming

doi:10.1186/1750-1172-9-96

Orphanet Journal of Rare Diseases

Table 1 The demographic data and clinical manifestations of the Fabry disease patients with IVS4 + 919G > A mutation

From: Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)

Pt	Age	Sex	Comorbidity	Histology^a					α-Gal A^c	LysoGb3^d	LVMI^e		Cr/eGEF^f	LE^g	ERTⁱ/Dose^j
Pt	Age	Sex	Comorbidity	HC	MB	MFL	Other	Diameter	α-Gal A^c	LysoGb3^d	Initial	biopsy	Cr/eGEF^f	LE^g	ERTⁱ/Dose^j
1	58	M	Hyperlipidemia; Hypertension	+	+	+		34.7 ± 4.4	1.35	3.21	57.0	57.0	0.88/94.5	No	Not yet/0
2	61	M	Hyperlipidemia; Hepatitis B	+	+	+		21.8 ± 3.3	2.75	6.51	66.9	66.9	0.92/88.9	severe	Not yet/0
3	75	M	Coronary artery disease; Arrhythmia; Hepatitis C; Cholecystitis	+	+	+		31.5 ± 4.0	1.15	6.51	83.0	83.0	1.29/57.7	NA^h	Not yet/0
4	66	M	DM; Hypertension;ESRD s/p renal transplantation; Cholecystitis; Hyperuricemia	+	+	+		30.8 ± 5.6	1.29	7.13	154.9	154.9	1.77/41.1	severe	Not yet/0
5	64	M	Hypertension; Coronary artery disease; Hyperlipidemia; Hyperuricemia	+	+	+		33.5 ± 8.0	1.32	7.47	128.1	128.1	0.97/82.8	No	Not yet/0
6	58	M	Hyperlipidemia	+	+	-		24.1 ± 2.4	2.17	9.60	54.5	38.5	1.01/80.6	No	8M/3.80
7	61	M	Cubital tunnel syndrome	+	+	+		25.9 ± 2.8	1.54	7.53	52.2	52.2	0.85/97.4	severe	10M/4.11
8	56	M	Hypertension; DM; Duodenal ulcer	+	+	-		25.6 ± 7.0	1.39	6.13	74.5	74.8	0.92/90.5	No	10M/4.35
9	66	M	Hyperlipidemia; Sick sinus syndrome	+	+	+	Fatty^b	24.9 ± 3.6	1.15	9.77	136.4	113.9	1.4/53.9	No	1Y5M/7.53
10	52	M	Coronary artery disease; Fatty liver	+	+	+	Fibrosis	21.1 ± 5.0	0.94	11.27	54.8	61.0	0.86/99.3	No	1Y6M/8.18
11	62	M	BPH; Bladder cancer; Osteoarthritis	+	+	-		21.6 ± 4.0	0.79	5.06	50.7	52.8	0.95/85.4	mild	1Y11M/9.76
12	63	M	Hyperlipidemia; Arrhythmia s/p pacemaker	+	+	-		23.2 ± 3.4	1.02	13.51	51.2	50.9	1.16/67.6	NA^h	2Y9M/14.90
13	58	M	Hypertension; Hyperlipidemia	+	+	+		26.2 ± 5.6	1.32	5.44	50.5	41.0	1.15/69.4	mild	2Y10M/15.61
14	58	M	Hypertension	+	+	+		24.0 ± 5.4	1.30	8.22	66.5	83.7	1.1470.1	No	2Y11M/16.33
15	66	M	Hypertension, Hyperuricemia	+	+	+		24.2 ± 4.1	1.47	14.54	88.2	81.4	0.81/101.3	severe	2Y11M/16.33
16	47	M	Hypertension; Arrhythmia	+	Scanty	-		23.1 ± 4.1	0.65	6.16	92.1	74.9	0.8/110.1	severe	4Y3M/44.84
17	58	M	Hypertension; DM; BPH	+	No	-		23.6 ± 3.8	0.88	5.19	76.0	71.4	0.84/99.8	severe	4Y3M/36.13
18	60	F	Lung adenocarcinoma; Hypertension; Insomnia	+	+	-		24.6 ± 3.4	5.79	2.12	48.9	31.2	0.75/83.8	No	1Y2M/6.51
19	65	F	Hypertension	+	+	+		20.5 ± 3.3	9.63	4.24	52.1	37.2	0.62/102.7	No	2Y2M/12.34
20	70	F	Hypertension; Major depression	+	+	+		25.8 ± 6.9	6.51	3.67	64.0	54.1	0.67/92.5	mild	2Y9M/14.90
21	62	F	Hypertension	+	+	+	Fatty^b	23.5 ± 3.5	5.17	3.49	53.4	31.1	0.83/74.0	mild	2Y10M/15.35
22	61	F	Chronic renal insufficiency; Hyperuricemia	+	Scanty	-		23.5 ± 7.1	4.03	2.60	59.2	49.0	2.98/17.0	No	3Y1M/18.50

DM: diabetes mellitus, BPH: benign prostate hyperplasia, ERT: enzyme replacement therapy, ESRD: end-stage renal disease, MRI: magnetic resonance imaging. ^aHistology of endomyocardial biopsies: HC: hypertrophic cardiomyocyte; MB: myelin bodies; MFL: myofibrillolysis; Diameter: minor cardiomyocyte diameter in mean ± SD (μm), and the control: 14.89 ± 2.63 μm; ^bFatty: fatty infiltration within the myocardium; ^cα-Gal A: normal reference ranges: 7.9-16.9 nmol/hr/ml; ^dLysoGb3: normal reference ranges:<0.5 nM; ^eLVMI (g/m^2.7): left ventricular mass index; ^fCr/eGFR: Cr(serum creatinine): normal range: 0.5-1.5 mg/dl; eGFR (estimated glomerular filtration rate): normal range: >60 ml/min/1.73 m²; ^gLE: late-enhancement by MRI: No: no fibrosis, mild: one segment, severe: more than 2 segment; ^hNA: not available. The two patients had arrhythmia with implanted pacemaker and MRI cannot be arranged; ⁱERT duration before biopsy; ^jDose (mg/kg): the cumulative dose of ERT before endomyocardial biopsy.

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ISSN: 1750-1172

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