Two dimensional echocardiographic similarity of Fabry's disease to cardiac amyloidosis: A function of ultrastructural analogy?
✍ Scribed by Ira S. Cohen; Joan Fluri-Lundeen; Thomas P. Wharton
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 521 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0091-2751
No coin nor oath required. For personal study only.
✦ Synopsis
Fabry's disease (angiokeratoma corporis diffusum universalis) is an X-linked recessive disorder of glycolipid metabolism caused by a deficiency of the enzyme alpha-galactosidase A. This deficiency results in the accumulation of a trihexoside of the sphingolipid ceramide in body tissues with clinical manifestations most commonly related to infiltration of renal, cutaneous, cardiac, and neural tissues.' Electron microscopic stud-ies2 -4 have shown that the intracellular deposits of ceramide trihexoside form lamellar structures, arranged either concentrically or in parallel stacks with a periodicity reported of 40-65 A between the successive layers (a "myeloid figure pattern"). A recent report5 described the two dimensional (2DE) and M-mode echocardiographic findings in cardiac amyloidosis and suggested a constellation of findings that appeared to be specific for that disorder. We report here the echocardiographic findings in a patient with Fabry's disease which are essentially identical to those described for amyloidosis. Several hypotheses for this similarity will be proposed.
CASE REPORT
The patient is a 53-year-old white male with known Fabry's disease who first presented to the Boston VA Hospital in 1962 with a chief complaint of pedal edema of 2 months duration. At that time he denied any history of cardiovascular, renal, hepatic, or venous disease. Past history was remarkable for the presence of an asymptomatic perianal rash noted by an Army physician in 1950. The patient was an orphan. A blood brother was known to have had Fabry's disease and died From the Cardiology Section, Boston VA Medical Center and