Case Report
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 | (-) | (-) | (-) |
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ECG: electrocardiography; TTE: transthoracic echocardiography; LVH: left ventricular hypertrophy; MRI: magnetic resonance imaging. |