Potential role of imaging markers in predicting future disease expression of arrhythmogenic cardiomyopathy

Aim: To evaluate the predictive accuracy of trabecular hypertrophy/derangement and late gadolinium enhancement in predicting diagnosis of arrhythmogenic cardiomyopathy (AC). Materials & methods: Fifty-nine suspected AC patients were evaluated. To evaluate the ability of these markers to detect patients fulfilling definite diagnosis at 4-year follow-up, sensitivity (Se), specificity (Sp), positive and negative predictive value (PPV and NPV) and predictive accuracy (PA) were calculated. Results: Presence of trabecular hypertrophy/derangement showed high NPV, while late gadolinium enhancement at cardiac MRI high Sp, NPV and PA. Their combination with symptoms and/or revised Task Force Criteria showed a high Sp, NPV and PA for definitive diagnosis during follow-up. Conclusion: In suspected AC patients, the absence of these markers allows to identify those with lower risk of disease progression.Lay abstract Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease, where the heart muscle is replaced by scar and fat, leading to irregular heart rhythm, heart failure and sudden cardiac death. The diagnosis of AC is often difficult, since in the early phase of disease it can mimic other cardiac disease and, in the large part of cases, progression of the diseases can take several years. Echocardiography and cardiac magnetic resonance are two techniques that can help to identify the patients at lower risk of disease progression. This study aimed to explore the accuracy of some disease markers in predicting the diagnosis of AC. After looking at 59 patients with suspected AC, it was shown that the absence of certain disease markers may hint at a lower risk of progression of AC.