Echocardiography in Fabry disease: diagnostic value of endocardial border binary appearance.
ABSTRACT It has been reported that the endocardium in Fabry disease has a binary appearance on transthoracic echocardiography. It has been suggested that this sign could be used with good accuracy to differentiate Fabry disease from hypertrophic cardiomyopathy and even as a first filter to screen for suspected Fabry disease.
Therefore, we performed a blinded echocardiography in a non-selected population of patients with Fabry disease and matched controls. We included 23 echocardiographic studies of Fabry patients.
Two of the Fabry patients had binary appearance of the endocardium. One of them had left ventricular hypertrophy (LVH) and the other had a normal left ventricular mass. Binary appearance of the endocardium was detected in four of the controls, and one of them had LVH. Subgroup analysis of patients who had LVH indicated a sensitivity of 12.5% and a specificity of 66.7% for binary appearance of the endocardium to detect Fabry disease as the underlying cause of LVH. Overall, binary appearance of the endocardium had a sensitivity and a specificity of 15.4 and 73.3%, respectively, to distinguish patients with Fabry disease from controls in our population.
Binary appearance of the endocardium is not feasible for screening Fabry disease by echocardiography.
- [show abstract] [hide abstract]
ABSTRACT: A unique adult male patient who developed cardiomyopathy was first suspected to have cardiac Fabry disease based on the pathological findings in heart tissues obtained on biopsy, but the alpha-galactosidase activity in his leukocytes was normal and no mutation was detected in the coding region of the alpha-galactosidase gene. We identified accumulated materials in the myocardium of this patient. Pathological and biochemical analyses were performed using the autopsied heart tissues as samples. Although numerous lamellar and concentric inclusion bodies were ultrastructurally found in the autopsied myocardium, the alpha-galactosidase activity in the heart tissues was not decreased. Lipid analysis revealed the accumulation of phospholipids including phosphatidylethanolamine, phosphatidylcholine, and phosphatidylinositol, but not globotriaosylcereamide or gangliosides. We found that a large amount of phospholipids accumulated in the myocardium of a patient with idiopathic cardiomyopathy, and electron microscopic findings of lamellar and concentric inclusion bodies in cardiomyocytes. A cardiac phospholipid storage disorder should be considered as an important candidate disease on differential diagnosis of myocardiac disorders including cardiac Fabry disease.Clinica Chimica Acta 11/2006; 372(1-2):154-7. · 2.85 Impact Factor
- [show abstract] [hide abstract]
ABSTRACT: EDITOR—Anderson-Fabry disease (AFD) is a sphingolipid storage disorder resulting from the deficiency of the lysosomal enzyme Æ-galactosidase. Unlike most other lysosomal diseases, the inheritance is X linked. Disease manifestations in female heterozygotes have been reported, but are considered to be rare and usually mild. 1 Asymptomatic corneal dystrophy (cornea verticillata and posterior lenticular cataract) is present in about 70% and is useful for heterozygote detection. About 30% of women have minimal angiokeratomas andJournal of Medical Genetics 12/2001; 38(11):769-75. · 5.70 Impact Factor
- Heart (British Cardiac Society) 04/2007; 93(4):528-35. · 5.01 Impact Factor