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September 5, 2025European Heart Journal - Case ReportsOpen Access

A reconsidered diagnosis in an unresolving myocarditis—a case report

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Authors

BWBradley WoolfendenCCChristian CawleyDWDeirdre Ward

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Overview

Case report reveals atypical myocarditis symptoms in a patient, indicating possible Klinefelter's Syndrome and dystrophin mutation.

Key Points

  • Persistent symptoms despite treatment led to reconsideration of the myocarditis diagnosis for the 17-year-old.
  • Investigations showed mildly elevated troponin T and abnormal CMR with LGE, suggesting further evaluation was needed.
  • Genetic testing confirmed dual diagnosis of Klinefelter's Syndrome and a dystrophin gene mutation, altering earlier assumptions.
  • The interplay of Klinefelter's Syndrome and muscular dystrophy provides insight into the patient's unique clinical presentation.

Cite This Study

Woolfenden et al. (2025) studied this question.

synapsesocial.com/papers/68c23966b210217d6477bfe1https://doi.org/10.1093/ehjcr/ytaf379
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Also Consider

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  1. 1A curious case of Escherichia coli induced myocarditis2025
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  4. 4Myocarditis or “Hot phase” of arrhythmogenic cardiomyopathy? A case series2025 · 1 citations
  5. 5A high proportion of children with severe cardiomyopathies show both myocarditis and genetic predispositions2026