Tekrarlayan Kardiyoembolik İnme ile Seyreden Duchenne Musküler Distrofi: Tromboembolik Riskleri Vurgulayan Bir Olgu

Öz

ÖZET Amaç: Duchenne musküler distrofinin (DMD) kaçınılmaz komplikasyonlarından biri kardiyomiyopatidir ve intrakardiyak trombüs oluşumu nedeniyle kardiyoembolik inme riskini artırabilir. Burada, daha önce inme öyküsü olan ve diş tedavisi için antiplatelet tedavisini geçici olarak kesmesinin ardından tekrarlayan iskemik inme gelişen genç bir erişkin olguyu sunuyoruz. Bu olgu, antitrombotik tedavinin kesintisiz sürdürülmesinin ve kardiyoembolik olay riski taşıyan DMD hastalarında multidisipliner takibin önemini vurgulamaktadır. Olgu sunumu: DMD tanısı bilinen 26 yaşındaki erkek hasta, ani başlayan konuşma bozukluğu ile acil servise başvurdu. Tıbbi öyküsünde üç yıl önce geçirilmiş iskemik inme vardı ve klopidogrel ile antiplatelet tedavi görmekteydi. Ancak planlanan diş tedavisi nedeniyle ilaç bir hafta süreyle kesilmişti. Hasta tekerlekli sandalyeye bağımlıydı ve başlangıçta modifiye Rankin Skalası skoru 5 idi. Nörolojik muayenede motor disfazi ve sol santral fasiyal paralizi saptandı; sol alt ekstremitede kas gücü azalmıştı. Önceden mevcut kontraktürler ve spastisite nedeniyle ayrıntılı motor değerlendirme sınırlıydı. Kraniyal BT’de akut patoloji izlenmedi. Beyin MR’ında sağ kaudat nükleus ve sol parietal lobda subakut enfarkt alanları görüldü. Transtorasik ekokardiyografi, sol ventrikül ejeksiyon fraksiyonunun %45–50 olduğunu ve hafif kardiyomiyopatiyi ortaya koydu. EKG’de sinüs ritmi ve inkomplet sol dal bloğu izlendi; 24 saatlik Holter monitöründe aritmi saptanmadı. Laboratuvar incelemelerinde antitrombin III aktivitesi düşük (%75,3) ve aktive protein C direnci sınırda (1,82) bulundu; protein C, protein S ve antifosfolipid antikor düzeyleri normaldi. Karotis ve vertebral Doppler ultrasonografide anlamlı stenoz yoktu. Genetik ve edinsel hiperkoagülabilite açısından ileri incelemeler de normaldi. Antitrombotik tedavi yeniden başlandı. Kardiyak emboli kaynağını araştırmak için transözofageal ekokardiyografi önerildi ancak hasta yakınları tarafından reddedildi. Hasta, nöroloji ve hematoloji kliniklerinde yakın multidisipliner takip önerileriyle taburcu edildi. Sonuç: Düzenli kardiyak değerlendirmeler, koagülasyon bozukluklarının taranması ve kesintisiz antitrombotik tedavi, inme riskini azaltmada esastır. DMD hastalarında multidisipliner ve bireyselleştirilmiş tedavi stratejisi şiddetle önerilmektedir.

Anahtar Kelimeler

• Duchenne musküler distrofi
• Kardiyoembolik inme
• Kardiyomiyopati
• Antitrombotik tedavi

Destekleyen Kurum

Bu araştırma, kamu, ticari veya kâr amacı gütmeyen herhangi bir finansman kuruluşundan özel bir destek almamıştır.

Etik Beyan

Yayın için hastanın yasal vasisi tarafından bilgilendirilmiş onam alınmıştır.

Duchenne Muscular Dystrophy with Recurrent Cardioembolic Stroke: A Case Highlighting Thromboembolic Risks

Öz

ABSTRACT Aim: Cardiomyopathy is one of the inevitable and predictable complications of DMD and may increase the risk of cardioembolic stroke due to intracardiac thrombus formation. Here, we present the case of a young adult with a prior stroke history who developed recurrent ischemic stroke following the temporary discontinuation of antiplatelet therapy for dental treatment. This case highlights the importance of continued antithrombotic therapy and the need for multidisciplinary follow-up in patients with DMD who are at risk for cardioembolic events. Case Presentation: Our case was 26-year-old male with a known diagnosis of Duchenne muscular dystrophy (DMD) presented to the emergency department with sudden-onset speech disturbance. His medical history included an ischemic stroke three years earlier, for which he had been receiving antiplatelet therapy with clopidogrel. The medication had been temporarily discontinued for one week due to a planned dental procedure. The patient was wheelchair-bound, with a baseline modified Rankin Scale score of 5. Neurological examination revealed motor dysphasia and left central facial palsy, accompanied by relatively decreased muscle strength in the left lower extremity. Detailed motor evaluation was limited due to pre-existing contractures and spasticity. Cranial computed tomography showed no acute pathology. Brain magnetic resonance imaging demonstrated subacute infarct lesions in the right caudate nucleus and the left parietal lobe. Transthoracic echocardiography revealed mild cardiomyopathy with a left ventricular ejection fraction of 45–50%. Electrocardiography showed sinus rhythm with incomplete left bundle branch block, and no arrhythmia was detected on 24-hour Holter monitoring. Laboratory investigations demonstrated decreased antithrombin III activity (75.3%) and borderline activated protein C resistance (1.82), while protein C, protein S, and antiphospholipid antibody levels were within normal limits. Carotid and vertebral Doppler ultrasonography showed no significant stenosis. Further evaluation for genetic and acquired hypercoagulable states was unremarkable. Antithrombotic therapy was reinitiated. Although transesophageal echocardiography was recommended to further investigate a potential cardiac source of embolism, it was declined by the patient’s relatives. The patient was discharged with recommendations for close multidisciplinary follow-up in neurology and hematology clinics. Conclusion: Regular cardiac assessments, screening for coagulation disorders, and continuous antithrombotic therapy are essential for reducing stroke risk. A multidisciplinary, individualized treatment strategy is strongly recommended for patients with DMD.

Anahtar Kelimeler

• Duchenne Muscular Dystrophy
• Cardiomyopathy
• Cardioembolic Stroke
• Antithrombotic Therapy

Destekleyen Kurum

This research received no specific grant from any funding agency in the public, commercial or not-for profit sectors

Etik Beyan

Informed consent was obtained from the patient's legal guardian for publication

Kaynakça

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