Literature DB >> 18045706

Cardiac abnormalities in McLeod syndrome.

Erwin Oechslin, Daniela Kaup, Rolf Jenni, Hans H Jung.   

Abstract

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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Year:  2007        PMID: 18045706     DOI: 10.1016/j.ijcard.2007.07.167

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN: 0167-5273            Impact factor:   4.164


  8 in total

1.  Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic and genetic evaluation.

Authors:  K Mente; S A Kim; C Grunseich; M M Hefti; J F Crary; A Danek; B I Karp; R H Walker
Journal:  Neuropathol Appl Neurobiol       Date:  2017-10       Impact factor: 8.090

Review 2.  XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.

Authors:  Kevin Peikert; Andreas Hermann; Adrian Danek
Journal:  Transfus Med Hemother       Date:  2022-01-25       Impact factor: 3.747

Review 3.  Cardiac Involvement in Movement Disorders.

Authors:  Malco Rossi; Nestor Wainsztein; Marcelo Merello
Journal:  Mov Disord Clin Pract       Date:  2021-04-07

4.  Update on the Non-Huntington's Disease Choreas with Comments on the Current Nomenclature.

Authors:  Ruth H Walker
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2012-01-30

Review 5.  Neuroacanthocytosis syndromes.

Authors:  Hans H Jung; Adrian Danek; Ruth H Walker
Journal:  Orphanet J Rare Dis       Date:  2011-10-25       Impact factor: 4.123

Review 6.  Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.

Authors:  Ruth H Walker
Journal:  J Mov Disord       Date:  2015-05-31

Review 7.  Management of Neuroacanthocytosis Syndromes.

Authors:  Ruth H Walker
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2015-10-19

8.  Clinical and molecular research of neuroacanthocytosis.

Authors:  Lihong Zhang; Suping Wang; Jianwen Lin
Journal:  Neural Regen Res       Date:  2013-03-25       Impact factor: 5.135

  8 in total

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