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A rare cause of recurrent myocarditis in pediatric patients
Session:
CASOS CLÍNICOS DE INSUFICIÊNCIA CARDÍACA E CUIDADOS INTENSIVOS
Speaker:
Manuela Da Silva Lopes
Congress:
CPC 2025
Topic:
E. Coronary Artery Disease, Acute Coronary Syndromes, Acute Cardiac Care
Theme:
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Subtheme:
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Session Type:
Sessão de Casos Clínicos
FP Number:
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Authors:
Manuela Da Silva Lopes; Ana R. Jesus; João Nascimento; Joana Rosmaninho-Salgado; Maria E. Amaral; António Pires
Abstract
<p style="margin-left:76px; text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><span style="font-size:11.0pt"><span style="font-family:"Arial",sans-serif">Introduction: 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.</span></span></span></span></p> <p style="margin-left:76px; text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><span style="font-size:11.0pt"><span style="font-family:"Arial",sans-serif">Case summary: We present two pediatric cases involving <em>DSP</em> gene variants. Patient 1 is 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 nonsense <em>DSP</em> variant c.2917G>T p.(Glu973*) in heterozygosity, classified as likely pathogenic, inherited from the mother 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 improved disease control, with the current dose at 1500 mg daily.</span></span></span></span></p> <p style="margin-left:76px; text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><span style="font-size:11.0pt"><span style="font-family:"Arial",sans-serif">Patient 2 is a 17-month-old infant followed by pediatric neurology for hypotonia and epilepsy. Genetic testing was carried out in order to identify a possible cause for his neurodevelopmental symptoms. A heterozygous nonsense pathogenic <em>DSP</em> variant c.1273C>T p.(</span></span><span style="font-size:11.0pt"><span style="font-family:"Arial",sans-serif">Arg425*) was found. The variant was inherited from the father. </span></span><span style="font-size:11.0pt"><span style="font-family:"Arial",sans-serif">Despite normal findings on electrocardiogram and echocardiogram and the absence of cardiovascular symptoms, the patient’s family history revealed significant cardiac pathology. His father, who presented woolly hair and palmar keratosis, has also a history of myocarditis, while his paternal grandfather reportedly had an unspecified cardiac condition along with similar dermatological features.</span></span></span></span></p> <p style="margin-left:76px; text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><span style="font-size:11.0pt"><span style="font-family:"Arial",sans-serif">Conclusion: These cases highlight the phenotypic variability associated with <em>DSP</em> mutations and emphasize the critical importance of thorough family history evaluation in patients presenting with both cardiac and extracardiac manifestations. While current management strategies prioritize optimizing cardiovascular symptoms, further research is essential to elucidate the role of immunosuppressive therapy in modifying disease progression.</span></span></span></span></p>
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