A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period

Table 2

Organ involvements of the affected family member.

Variables	Patient	First son	Second son
Age at diagnosis	50	32	31
Sex	Female	Male	Male
Mutation	Exon 6; p.Leu324Trpfs24	Exon 6; p.Leu324Trpfs24	Exon 6; p.Leu324Trpfs24
Leukocyte α-galactosidase (nmol/h/mg protein)	10.6	2.2	4.4
PR interval on ECG	0.127	0.141	0.157
LVH on ECG	(+)	(+)	(+)
TTE	LVH	LVH	LVH
Delayed enhancement on heart MRI	(+), basal segment	(-)	(-)
Proteinuria (mg/24 h)	60	473	416
Cornea verticillata	(+)	(+)	(+)
Angiokeratoma	(+)	(+)	(+)
Anhidrosis	(-)	(-)	(+)
Chronic neurotic pain	(+)	(+)	(+)
Brain involvement	(-)	(-)	(-)

ECG: electrocardiography; TTE: transthoracic echocardiography; LVH: left ventricular hypertrophy; MRI: magnetic resonance imaging.