Key result
Novel DES mutation links recurrent suspected myocarditis to infrahisian conduction disease.
Why the study?
Desminopathies are rare inherited diseases with broad clinical presentations, and diagnosis is challenging due to low incidence and variable phenotypes including cardiac involvement.
Case Report (n=1)
May warrant genetic testing for desmin mutations in recurrent myocarditis with conduction block; extends phenotype but hypothesis-generating.
Desminopathies are rare inherited diseases caused by mutations in the desmin gene. Diagnosis of desminopathies is challenging because of their low incidence and the broad spectrum of clinical presentations. The present report (1) describes a new clinical presentation mimicking recurrent myocarditis, extending the clinical phenotype associated with desmin mutations; and (2) demonstrates that the Purkinje system is involved in the pathogenesis of conduction disturbances related to desminopathies.
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Boulé et al. (2015) conducted a case report in Desminopathy (Recurrent suspected myocarditis and conduction disturbances) (n=1). Heterozygous missense mutation (c.38C>T; p.Ser13Phe) in the desmin gene was evaluated. A heterozygous missense mutation in the desmin gene (c.38C>T; p.Ser13Phe) presented as recurrent suspected myocarditis combined with infrahisian conduction disturbances, extending the disease phenotype.
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