engleski

Arrhythmogenic right ventricular cardiomyopathy with multiple thrombi - Case report

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy commonly transmitted as an autosomal dominant trait, characterized by incomplete penetrance and variable expressivity. So far 13 disease genes have been identified, responsible for approximately 60% of all ARVC cases. We present the case of 61 year old female patient with multiple thrombi in a cavity of RV who had a combination of ARVC and hereditary thrombophilia (homozygous mutation on 5GPAI-1 allele). It is very rare combination and diagnostic challenge for us. Considering that diagnostic protocol went retrograde from rare combination according to cause and that it included history, laboratory tests, ECG, and Holter ECG monitoring, multimodal imaging methods (TTE, TEE, MRI, multislice CT, PET CT, coronary angiography), surgical procedure with extirpation of multiple RV masses and pathohistological analysis, and molecular markers of inherited thrombophilia, we believe that this is phenomenal example of the application of personalized medicine into practice.

arrhytmogenic right ventricular cardiomyopathy ; thrombi

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