Case reports in pediatrics · 2026
Pediatric Dilated Cardiomyopathy With Suspected Hereditary Protein C/S and Antithrombin III Deficiency Presenting as Ischemic Stroke-A Rare Case Report.
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Imran Muhammad Waleed, Moaz Muhammad, Nawaz Sanwal Sardar, Ilyas Amna, Abid Sabeen
Аннотация
OBJECTIVE: To report a rare case of pediatric dilated cardiomyopathy (DCM) with suspected hereditary protein C, protein S, and antithrombin III deficiency presenting as ischemic stroke.
BACKGROUND: Children with DCM are at increased risk of thromboembolism. Inherited thrombophilias are an uncommon but important cause of pediatric stroke and may coexist with cardiac disease.
CASE PRESENTATION: An 8-year-old female presented with heart failure and was diagnosed with severe DCM (LVEF ∼24%). Despite medical therapy and antiplatelet prophylaxis, she developed acute right-sided hemiparesis. MRI confirmed a left hemispheric ischemic stroke. Thrombophilia workup revealed reduced protein C (41.5%), protein S (50.7%), and antithrombin III (65.1%) levels, suggestive of a suspected inherited thrombophilic disorder, while PT/aPTT/INR remained normal. She was managed conservatively with antiplatelets and rehabilitation, showing partial neurological recovery. Follow-up demonstrated improved cardiac function (LVEF ∼50%).
CONCLUSION: The coexistence of DCM and suspected inherited thrombophilia can predispose to ischemic stroke in children. Normal routine coagulation tests do not exclude thrombophilia; targeted screening should be considered in high-risk cases.
BACKGROUND: Children with DCM are at increased risk of thromboembolism. Inherited thrombophilias are an uncommon but important cause of pediatric stroke and may coexist with cardiac disease.
CASE PRESENTATION: An 8-year-old female presented with heart failure and was diagnosed with severe DCM (LVEF ∼24%). Despite medical therapy and antiplatelet prophylaxis, she developed acute right-sided hemiparesis. MRI confirmed a left hemispheric ischemic stroke. Thrombophilia workup revealed reduced protein C (41.5%), protein S (50.7%), and antithrombin III (65.1%) levels, suggestive of a suspected inherited thrombophilic disorder, while PT/aPTT/INR remained normal. She was managed conservatively with antiplatelets and rehabilitation, showing partial neurological recovery. Follow-up demonstrated improved cardiac function (LVEF ∼50%).
CONCLUSION: The coexistence of DCM and suspected inherited thrombophilia can predispose to ischemic stroke in children. Normal routine coagulation tests do not exclude thrombophilia; targeted screening should be considered in high-risk cases.