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Cardiac abnormalities in McLeod syndrome

Erwin Oechslin, Daniela Kaup, Rolf Jenni, Hans H Jung
International Journal of Cardiology 2009 February 6, 132 (1): 130-2
18045706
We report the cardiac features of seven patients with X-linked McLeod neuroacanthocytosis syndrome, a multi-system disorder resembling Huntington's disease and cardiac manifestations in about half of the patients reported to date. One patient presented with a cardiomyopathy (normal size of the left ventricle with concentric remodeling and mildly impaired ejection fraction, 43%). This patient died from sudden cardiac death in the absence of any cardiovascular risk factors. Autopsy demonstrated eccentric hypertrophy and mild left ventricular dilatation. Histopathology was not specific and revealed focal myocyte hypertrophy, slight variation of myofiber size and patchy interstitial fibrosis.

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