Bilateral ischemic stroke in a 37-year-old patient with factor V Leiden mutation and arrhythmogenic right ventricular dysplasia

Arrhythmogenic right ventricular cardiomyopathy (ARVC), also known as arrhythmogenic right ventricular dysplasia (ARVD), is predominantly a genetically determined myocardial disorder characterized by fibrofatty replacement of the right ventricular (RV) myocardium.¹ It occurs in young adults who engage in strenuous exercise or competitive sports,² and accounts for 5% to 10% of sudden unexplained death in people under 65 years of age.³

A 37-year-old patient with a history of COVID-19 myocarditis was admitted to a hospital due to right hemispheric ischemic stroke involving the middle cerebral artery (MCA) territory, successfully treated with mechanical thrombectomy. Young age of the patient prompted a comprehensive diagnosis, revealing coincidental presence of the factor V Leiden mutation; at that point no anticoagulation treatment was introduced due to no clear clinical indications. The patient was hospitalized in the poststroke rehabilitation unit, where, less than 1 month after the stroke, neurologic exacerbation in the form of cluster seizures was observed, supposedly secondary to the ischemic defect.

On the next day, symptoms of the left cerebral hemisphere damage appeared. A head computed tomography scan showed new ischemic lesions in the left temporal, parietal, and occipital lobes, with segmental hyperdensity of the distal MCA. Considering the occurrence of 2 extensive ischemic foci several weeks apart, cardioembolic etiology was suspected. Urgent echocardiogram was performed, on which RV dilatation, akinesis, and thinning of the RV apex with increased trabeculation were identified, raising a suspicion of ARVD/C. Electrocardiography showed features of ventricular tachycardia with multiple supraventricular extrasystoles and features of ST elevation in the V3–V5 leads, indicating incomplete right bundle branch block. Atrial fibrillation (AF) was observed as well.

The condition of the patient was deteriorating and features of hemorrhagic transformation of the stroke focus in the left cerebral hemisphere appeared. Laboratory tests identified a stable high troponin level of 1143 ng/l (reference range, 0–4 ng/l), secondary to cardiac damage due to arrhythmogenic cardiomyopathy. Treatment was implemented in the form of amiodarone infusion at a dose of 100 mg/h, then 25 mg/h, and oral metoprolol at a dose of 3 × 25 mg daily. The patient condition stabilized. He remained sedated, without logical contact, with symptoms of profound aphasia and quadriparesis.

To verify the diagnosis, a cardiac magnetic resonance examination was performed under general anesthesia, revealing generalized RV myocardial thinning and hyperintensities on T2-weighted images within the free wall of the RV, with features of late gadolinium enhancement (LGE) (Figure 1A and 1B). Areas of dyskinesis of the basal and medial parts of the RV free wall with its local bulging were seen. RV ejection fraction was 14%, end-diastolic volume 76 ml, end-systolic volume 66 ml, stroke volume 10 ml, and the wall mass was 32 g (Supplementary material, Figure S1). There were also features of the left ventricular insufficiency, with the ejection fraction of 39% and numerous intramural and transmural areas of LGE. Based on the clinical presentation and diagnostic tests performed, the initial diagnosis of ARVD/C was confirmed.

Over the past few years, single cases of stroke secondary to ARVD/C have been reported in young individuals; in such cases AF is considered the leading mechanism of developing the ischemic event. This is suspected to significantly increase the risk of viral myocarditis, for example, COVID-19–related one as in our patient. Regardless of the 2010 diagnostic criteria,¹ this pathology remains an underdiagnosed cause of sudden cardiac death in young individuals, especially those who are physically active.