Management of hypertrophic cardiomyopathy
BMJ 2006; 332 doi: https://doi.org/10.1136/bmj.332.7552.1251 (Published 25 May 2006) Cite this as: BMJ 2006;332:1251Data supplement
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Genetic screening for the differential diagnosis between hypertrophic cardiomyopathy and other genetic diseases associated with left ventricular wall thickening
Left ventricular wall thickening resembling hypertrophic cardiomyopathy may occur in children and adults affected by other rare genetic diseases.[3] [4] Therefore, in selected patients, detailed cardiac imaging obtained with echocardiography or magnetic resonance may not be sufficient, and only DNA analysis has the potential for establishing the correct diagnosis. For example, left ventricular wall thickening due to metabolic glycogen storage diseases such as Danon may mimic hypertrophic cardiomyopathy. Clinical features suggestive of Danon include young age, massive and often symmetric hypertrophy (³30 mm involving both the septum and posterior wall), pre-excitation or short P-Q interval on the electrocardiogram, increased total creatine phosphokinase enzymes, behaviour abnormalities and learning disabilities.w1 Evolution to wall thinning and systolic dysfunction occurs early in the clinical course of the disease. In middle age men or women with Anderson-Fabry disease, a relatively mild and mainly symmetric left ventricular wall thickening may be present, usually associated with other systemic manifestations of this genetic disorder.[3] [4] w2 Left ventricular wall thickening resembling hypertrophic cardiomyopathy may also occur in patients with cardiac amyloidosis, Noonan’s syndrome, Friedreich’s ataxia, and left ventricular non-compaction. In these latter conditions, the diagnosis can be established by using a clinical approach.[3] [4]
w1. Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005, 352: 362-72.
w2. Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, et al. Prevalence of Anderson-Fabry disease in male patients with late onsethypertrophic cardiomyopathy. Circulation. 2002, 105: 1407-11.
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