Reduced coronary flow reserve in Anderson-Fabry disease measured by transthoracic Doppler echocardiography
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Coronary flow reserve was assessed in a patient with Anderson-Fabry disease complicated by symmetric left ventricular hypertrophy. Coronary flow reserve was measurable in all three major coronary arteries providing an opportunity to compare regional coronary flow reserve from different vascular beds. In this patient all the three vascular beds supplied diffusely hypertrophied myocardium. Coronary flow disturbances in small intramyocardial perforating arteries were visible. The coronary flow reserve was reduced to a similar level (around to 2.0) in all three major arteries. In our patient with Anderson-Fabry disease, the coronary vasodilatation was blunted in a diffuse pattern corresponding to the myocardial hypertrophy distribution. In small intramyocardial arteries coronary flow was also disturbed. Accordingly, retrograde systolic flow and accelerated anterograde diastolic flow were documented.
KeywordsLeft Anterior Descend Coronary Flow Hypertrophic Cardiomyopathy Enzyme Replacement Therapy Right Coronary Artery
List of Abbreviations
left anterior descending coronary artery
right coronary artery
right posterior descending coronary artery
circumflex coronary artery
Anderson-Fabry disease is an X-linked, multisystem, lysosomal storage disease (deficiency of enzyme α-galactosidase A), characterized by the accumulation of glycosphingolipids in various tissues and organs [1, 2], including skin, vascular endothelium, heart, kidneys, liver, lungs, pancreas and ganglion cells of the peripheral nervous system. The incidence is 1:117000. However, the rate may be underestimated because a common cardiac manifestation is myocardial hypertrophy that mimics hypertrophic cardiomyopathy. Abnormal storage in the cardiovascular system may also involve cardiac conduction system, valvular apparatus and endothelial cells in coronary vessels [1, 2, 3].
To assess coronary flow abnormalities in a patient with Anderson-Fabry disease, we performed transthoracic Doppler echocardiography. Using this method, coronary flow reserve is effectively measurable  and all three major coronary arteries are accessible in some patients [5, 6]. In a large series of 658 patients , coronary flow reserve was contemporarily recorded in left anterior descending (LAD) coronary artery (98% of patients), right coronary artery (RCA) (66% of patients) and circumflex (Cx) coronary artery (43% of patients). Additionally, flow disturbances in small intramyocardial perforating arteries were assessed as blood flow abnormalities at this level of coronary circulation were previously reported in left ventricular (LV) hypertrophy .
This 49-year-old male patient with Anderson-Fabry disease was referred to our hospital. He did not complain of anginal symptoms or dyspnea. As a part of an overall clinical evaluation, transthoracic echocardiography was performed, revealing a diffusely distributed myocardial hypertrophy, i.e. involving both (LV) free walls and the septum (the myocardial thickness at diastole was measured in the short parasternal-axis: the anterior segment of the septum- 19.6 mm; the posterior segment of the septum – 20.8 mm; the LV posterior wall – 20.7 mm; and the anterolateral wall 16.8 mm). Left ventricular systolic function was preserved (LV ejection fraction 68%). A precise assessment of myocardial hypertrophy by magnetic resonance imaging confirmed increased LV mass to 386 grams.
Comparison of echocardiography and MRI findings between Anderson-Fabry and hypertrophic cardiomyopathy.
Resting LVOT gradient
Massive LVH> 30 mm
LV diastolic dysfunction (tissue Doppler, strain rate)
Without LVH (genotype +)
LV systolic dysfunction
More frequent especially in older males
Most common site of late-enhancement (if present)
Ventricular junction, Multi-focal
In our patient with Anderson-Fabry disease, the coronary vasodilatation was blunted in a diffuse pattern corresponding to the myocardial hypertrophy distribution. In small intramyocardial arteries coronary flow was disturbed. Accordingly, retrograde systolic flow and accelerated anterograde diastolic flow were documented. Transthoracic Doppler echocardiography is now the only method available to evaluate blood flow characteristics in small intramyocardial arteries.
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