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Case Reports
. 2023 Sep 14;19(1):75-78.
doi: 10.14797/mdcvj.1164. eCollection 2023.

A Case of McLeod's Syndrome Presenting with Severe Decompensated Heart Failure

Hemanth K Boppana  1 , Samarthkumar Thakkar  2 , Harsh P Patel  3 , Rody G Bou Chaaya  2 , Scott Feitell  4
Affiliations
Case Reports

A Case of McLeod's Syndrome Presenting with Severe Decompensated Heart Failure

Hemanth K Boppana et al. Methodist Debakey Cardiovasc J. .

Abstract

McLeod's syndrome (MLS) is an X-linked disorder caused by mutations in the XK gene with neurological manifestations as well as cardiomyopathy. This is a case of acute exacerbation of heart failure in a 44-year-old White male with a confirmed diagnosis of MLS, which was managed with guideline-directed medical therapy and placement of an implantable cardioverter defibrillator with recovery in ejection fraction.

Keywords: McLeod’s syndrome; guideline-directed medical therapy; implantable cardioverter defibrillator; late galodinium enhancement.

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Conflict of interest statement

The authors have no competing interests to declare.

Figures

Two-dimensional and M-mode echo shows dilated left ventricle
Figure 1
Two-dimensional and M-mode echocardiogram showing a significantly dilated left ventricle.
CMR with diffuse late gadolinium enhancement shows myocardial scarring
Figure 2
Cardiac magnetic resonance imaging with diffuse late gadolinium enhancement (yellow arrow) consistent with myocardial scarring.
See this image and copyright information in PMC

References

    1. Jung HH, Danek A, Walker RH, Frey BM, Peikert K. McLeod Neuroacanthocytosis Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle, WA: University of Washington; 1993-2023.
    1. Witt TN, Danek A, Reiter M, Heim MU, Dirschinger J, Olsen EG. McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. J Neurol. 1992. Jul;239(6):302-6. doi: 10.1007/BF00867584 - DOI - PubMed
    1. Danek A, Rubio JP, Rampoldi L, et al. McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol. 2001. Dec;50(6):755-64. doi: 10.1002/ana.10035 - DOI - PubMed
    1. Quick S, Heidrich FM, Winkler M-V, et al. Cardiac manifestation is evident in chorea-acanthocytosis but different from McLeod syndrome. Parkinsonism Relat Disord. 2021. Jul;88:90-95. doi: 10.1016/j.parkreldis.2021.05.015 - DOI - PubMed
    1. Writing Committee; Maddox TM, Januzzi JL Jr., Allen LA, et al. 2021 Update to the 2017 ACC Expert Consensus Decision Pathway for Optimization of Heart Failure Treatment: Answers to 10 Pivotal Issues About Heart Failure With Reduced Ejection Fraction: A Report of the American College of Cardiology Solution Set Oversight Committee. J Am Coll Cardiol. 2021. Feb 16;77(6):772-810. doi: 10.1016/j.jacc.2020.11.022 - DOI - PubMed

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Supplementary concepts