Dyspnea on Exertion
A 32-year-old man complains of dyspnea on exertion. He also has acroparathesias, anhidrosis, and normal blood pressure. His father has renal disease. His electrocardiogram (Fig. 10-1) and echocardiogram (Videos 10-1 to 10-3 and Figs. 10-2 and 10-3) are shown.
 Figure 10-1. |
 Figure 10-2. |
 Figure 10-3. |
QUESTION 1. The most likely diagnosis is:
A. Amyloid
B. Sarcoid
C. Hypertensive heart disease
D. Fabry disease
View Answer
ANSWER 1: D. The presence of acroparesthesias, anhidrosis, and paternal history of renal disease all suggest Fabry disease, which is an X-linked disorder that is associated with renal dysfunction.
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