Table 2

Clinical characteristics of the seven patients with AFD

ID	Age (years)	Sex	MLVWT (mm)	Pattern of LVH	LVOTO	Conduction disease	AFD signs/symptoms	Renal function	Enzyme activity^*	Mutation	Clinical events
1	58	M	20	Concentric	−	−	−	Normal	(p) 0.2^†	c. 644 A→G N215S
2	45	F	18	Concentric	−	−	Angiokeratoma	Albuminuria normal GFR	(p) 5.9^†	c. 351C→T p.R118C
3	52	F	22	Concentric	+	LBBB	Angiokeratoma, Hypohydrosis, Acroparaesthesia, hypoacusis, cornea verticillata	Albuminuria normal GFR	(l) 35.9±2.7^‡	c. 730G→A D244N	Myectomy
4	53	M	17	ASH	−	−	Angiokeratoma, abdominal discomfort	Proteinuria; GFR 52 ml/min/1.73 m²	(p) 2.6^†	c. 427G→A p.A143T	AVN ablation and PPM due to fast AF
5	56	F	15	ASH	−	−	−	GFR 58 ml/min/1.73 m²	(p) 4.3^§ (l) 35.1^¶	c. 427G→A p.A143T
6	66	F	18	ASH	−	−	−	Normal	(p) 1.5^§ (l) 12.0^¶	c. 1228A→G p.T410A
7	72	M	18	Concentric	−	−	−	ProteinuriaGFR 40 ml/min/1.73 m²	(p) 0.1^†	c. 644 A>G N215S	Type II diabetes mellitus

↵* (p) indicates plasma levels, (l) indicates leucocytes levels.
↵† Normal range 4–21.9 nmol/h per ml.
↵‡ Normal range 51.4–74.9 nanomol/mg of protein/hr.
↵§ Normal range 2.3–9.9 nkat/l.
↵¶ Normal range 22–36 ukat/kg protein.
A minus (−) sign means absence; a plus (+) sign means presence.
AF, atrial fibrillation; AFD, Anderson–Fabry disease; ASH, asymmetric septal hypertrophy; AVN, atrioventricular node; GFR, glomerular filtration rate; LBBB, left bundle brunch block; LVH, left ventricular hypertrophy; LVOTO, left ventricular outflow tract obstruction; MLVWT, maximal left ventricular wall thickness; PPM, permanent pacemaker.