Utility of gadolinium enhanced cardiovascular MRI to differentiate Fabry's disease from other causes of hypertrophic cardiomyopathy
- Department of Radiology, Heart of England NHS Trust, Heartlands hospital, Bordesley Green East, Birmingham, West Midlands, UK
- Correspondence to Dr Edward T D Hoey, Department of Radiology, Heart of England NHS Trust, Heartlands hospital, Bordesley Green East, Birmingham, West Midlands B9 5SS, UK;
Contributors EH edited the manuscript and images and had the initial idea for the paper and provided guidance to the co-author ENG who wrote the first draft and researched the literature.
Fabry's disease is an X linked recessive lysosomal storage disorder resulting from a deficiency of the enzyme alpha-galactosidase which causes an inability to catabolise glycosphingolipid.1 There is progressive accumulation of globotriaosylceramide in many organs including skin, myocardium and kidneys. The classical form of the disease affects male homozygotes and presents in adolescence with burning extremity pain (acroparaesthesia) and progressive multi-organ failure. The most common variant is that seen in men who remain asymptomatic until the sixth to eighth decade before presenting with symptoms of congestive cardiac failure secondary to progressive myocardial fibrosis which is usually more extensive than that seen in affected women.1 It is important to distinguish Fabry's disease from other causes of left ventricular hypertrophy (LVH) including hypertensive heart disease and amyloidosis. Cardiovascular MRI(CMRI) is the technique of choice for a suspected cardiomyopathy as it frequently enables a specific diagnosis to be established. Gadolinium enhancement within the basal inferolateral wall that spares the endocardium seems to be specific to Fabry's disease as patients with hypertrophic cardiomyopathy of other causes have variable locations and distributions of gadolinium enhancement.2 Moon et al reported that around 50% of patients with genetically confirmed Fabry's disease will have this pattern of gadolinium enhancement2 which was subsequently proven histologically to correspond to areas of myocardial collagen deposition.3 Late gadolinium enhancement may also have a prognostic role with a recent study suggesting its presence predicts a lack of response to enzyme replacement therapy, presumably due to irreversible myocardial tissue damage.4
A 65-year-old man presented to the cardiology clinic for investigation of exertional dyspnoea and atypical chest pain. Physical examination was unremarkable and he was normotensive. A 12-lead ECG showed voltage criteria for LVH and echocardiography showed concentric LVH with moderate impairment of left ventricular function. CMRI was requested to provide additional assessment and tissue characterisation. CMRI confirmed concentric LVH (figure 1) with a maximal diastolic wall thickness of 20 mm and impaired systolic function (left ventricular ejection fraction 40%). Myocardial mass was grossly elevated at 280 g (upper limit of normal 180 g). Contrast enhanced inversion recovery images showed gadolinium uptake confined to the basal inferolateral left ventricle (figure 2), highly suggestive of Fabry's disease. The patient underwent enzyme testing which confirmed deficient alpha-galactosidase plasma activity and he was referred for consideration of replacement therapy.
Competing interests None.
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