Prognostic impact of the findings of the genetic test in left dominant arrhythmogenic cardiomyopathy

• Published in: International journal of cardiology. Heart & vasculature Vol. 51; p. 101367
• Main Authors: García-Cano, Laura, Miguel Martín-Torres, José, García-Fernández, Amaya, Feliu-Rey, Eloísa, Gabriel Martínez-Martínez, Juan, Miguel Ruiz-Nodar, Juan
• Format: Journal Article
• Language: English
• Published: Ireland Elsevier B.V 01.04.2024; Elsevier
• Subjects: Cardiac Magnetic Resonance; Genetics; Left dominant arrhythmogenic cardiomyopathy; Left dominant arrhythmogenic cardiomyopathy; Cardiac Magnetic Resonance; Genetics
• ISSN: 2352-9067; 2352-9067
• DOI: 10.1016/j.ijcha.2024.101367

The diagnosis of left dominant arrhythmogenic cardiomyopathy (LDAC) is sometimes complex. The Padua group recently published a document with criteria to identify patients with LDAC, requiring a compatible genetic variant for diagnosis. Due to the gaps in the knowledge of the role of genetics in its pathogenesis, our objective is to describe the findings of the genetic test in patients with LDAC in our center and its prognostic impact. Single-center prospective cohort study, in which we recruited 77 patients diagnosed with LDAC or biventricular arrhythmogenic cardiomyopathy according to the criteria of Sen-Chowdhry et al. We obtained a positive result in the genetic test in 53.2 %. The desmoplakin gene was the most affected (16.9 %). The mean value of left ventricular (LV) ejection fraction was 45.6 ± 13.1 %, with no significant differences in the severity of the dysfunction according to genetics (p = 0.187). Among the patients with positive genetics there was a greater number of segments in the LV affected by fibrosis (p = 0.043). Regarding fatty infiltration in the LV and number of affected segments, there were no significant differences between groups (p = 0.144). MACE was recorded in 23 patients (29.9 %). The positive result in the genetic test was not significantly associated with the occurrence of MACE (p = 0.902). In our study, we did not find mutations responsible for the disease in practically half of the cases. Despite the existence of a high proportion of MACE during follow-up, there were no prognostic differences according to the result of the genetic test.