A rare cause of recurrent myocarditis

Background

Acute myocarditis, often linked to viral infections and autoimmune processes, significantly contributes to sudden cardiac death in young adults. Recurrent episodes can result from genetic mutations, particularly involving desmosomal proteins like desmoplakin (DSP). An accurate genetic diagnosis is essential for proper patient management.

Case summary

We present a case of a 14-year-old Caucasian male with recurrent chest pain and elevated troponin. His maternal history was notable for recurrent myocarditis. Genetic testing revealed a novel DSP variant c.2917G > T p.Glu973* in heterozygosity, classified as likely pathogenic and associated with cardiomyopathy, woolly hair, keratoderma, and tooth agenesis (MIM:615821). Initial treatment with colchicine, prednisolone, and azathioprine managed to control symptoms but failed to prevent recurrence. Mycophenolate mofetil was later introduced, leading to a more sustained improvement.

Discussion

Recent literature linked DSP mutations to cardiomyopathies with high risks of arrhythmias and heart failure. While current management focuses on optimizing the underlying cardiovascular hemodynamic burden, this case highlights the potential utility of immunosuppressive therapy. Further research is needed to clarify its role in modifying disease progression.

Conclusion

DSP mutations should be considered in recurrent myocarditis. Early molecular diagnosis and tailored immunosuppressive strategies may help mitigate fibrosis and improve long-term outcomes.