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[Myocardial involvement in female Fabry's disease: evaluation by thallium-201 myocardial scintigraphy]
T Tsuda1, A Yokoyama, F Masani
1First Department of Internal Medicine, Niigata University School of Medicine.
Insights
Heterozygous women with Fabry disease can exhibit cardiac issues. Thallium-201 myocardial scintigraphy effectively detects early cardiac involvement in these women, even before structural changes are visible.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Fabry disease is an X-linked disorder affecting glycosphingolipid metabolism.
- Cardiac manifestations in heterozygous women are rarely reported but can occur.
- Early detection of cardiac involvement is crucial for timely intervention.
Observation:
- Three female patients with Fabry disease and low alpha-galactosidase activity were studied.
- Noninvasive cardiac assessments included ECG, 2-D echocardiography, Holter monitoring, treadmill testing, and thallium-201 scintigraphy.
- Electron microscopy revealed myelinoid lamellar inclusions in myocardial cells.
Findings:
- ECG abnormalities and ventricular premature beats were observed in some patients.
- Thallium-201 scintigraphy showed enhanced uptake in the cardiac apex in two patients.
- This enhanced uptake correlated with glycosphingolipid deposition, as confirmed by biopsy.
Implications:
- Myocardial involvement in female Fabry disease can manifest early, around the third decade.
- Thallium-201 myocardial scintigraphy is a sensitive tool for detecting cardiac lesions in these patients.
- Findings suggest the need for proactive cardiac screening in at-risk women.
Abstract:
Fabry's disease is characterized by an inherited X-linked disorder of glycosphingolipid catabolism, and heterozygous women affected with this disease who show overt symptoms including cardiac manifestations have rarely been reported. To elucidate the features of myocardial involvement in female patients, noninvasive techniques including exercise stress thallium-201 myocardial scintigraphy were performed. Three female patients, Cases 1-3, 26, 29 and 50 years of age, were documented low leucocytic alpha-galactosidase activities of less than 48% of normal (67.92-16.2 nmol/mg protein/h). They were examined using ECG, two-dimensional echocardiography (2-D Echo), Holter ECG, treadmill test and stress scintigraphy. On the ECG, negative T waves were shown in leads III and aVF in Cases 1 and 2. Left ventricular high voltage, giant negative T waves and short PR intervals were seen in Case 3. The 2-D Echo revealed neither valvular change nor left ventricular hypertrophy. On the Holter ECG, monofocal ventricular premature beats were occasionally observed in Cases 1 and 3. The treadmill test showed positive ST changes only in Case 2. On the exercise stress scintigraphy, uptake of thallium-201 was enhanced in the apex of the heart in Cases 2 and 3. Low uptake areas of thallium-201 were observed in Case 3. The ventricular angiogram revealed slight hypertrophy of the wall of the apical portion. In endocardial biopsies from the right ventricle, myelinoid lamellar inclusions were demonstrated in myocardial cells electron microscopically. Increased uptake of thallium-201 in the apex was noted in two of the three patients, but no apical thickening was noticed in any of the three cases by 2-D Echo. From the result of the biopsy of Case 3, the increased apical uptake of thallium-201 seems to reflect thickening caused by the deposition of glycosphingolipid. It was concluded that myocardial involvement in female Fabry's disease may occur early in the third decade and that the lesions could be detected with high sensitivity by thallium-201 myocardial scintigraphy.