Manuela Lopes , Ana R. Jesus , João Nascimento , Joana Rosmaninho-Salgado , Maria E. Amaral , António Pires
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引用次数: 0
Abstract
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.
期刊介绍:
Progress in Pediatric Cardiology is an international journal of review presenting information and experienced opinion of importance in the understanding and management of cardiovascular diseases in children. Each issue is prepared by one or more Guest Editors and reviews a single subject, allowing for comprehensive presentations of complex, multifaceted or rapidly changing topics of clinical and investigative interest.