879 STUDY OF ATRIOVENTRICULAR CONDUCTION DEFECTS AND ARRHYTHMIAS IN PATIENTS WITH DILATATIVE CARDIOMIOPATHY CLINICAL PROGNOSTIC VALUE OF THE GENETIC ANALYSIS USING NEXT GENERATION SEQUENCING AT THREE YEARS

نویسندگان

چکیده

Abstract Background Dilated cardiomyopathy is one of the most common cardiomyopathies that at onset shows a with dysfunction, commonly expressed by reduced ejection fraction (EF) and which can lead to heart transplantation. Cardiac "laminopathies" are part complex set CMD. In many cases they show defect in myocardial electrical conduction. Mutations Lamina A / C genes have been associated high arrhythmic risk sudden cardiac death. addition these, there others concerning MYH7, TTN, MYBPC3 genes, related CMD phenotype whose meaning being defined. Objectives The project has goal evaluating association disorders possible phenotypes genetic mutations described above. Materials Methods We studied 33 out 100 patients screened for on voluntary availability, suffering from different forms without significant coronary lesions. All them underwent diagnostic-instrumental checks (ECG, Holter Ecg, echocardiogram enzymatic profile) followed minimum period 18 months. At same time ordinary check -up, analyses were carried through NGS study panel collaboration between AOU G. Martino di Messina Bambino Gesu’ Hospital Rome. Results On undergoing study, variants uncertain significance (VUS) identified: variant c.2359 C> T (p.Arg787Cys) MYH7 gene reported VarSome as probably pathogenetic symptomatic patient endomyocardial biopsy +; c.54016G> heterozygosity TTN gene, another case, protein level determines introduction premature stop codon not scientific literature classified according ACMG guidelines pathogenic variant; finally c.949G> LMNA family history death manifest some members arrhythmias follow up (ICD). presence second mutation; c.836G> other better clinical course. Conclusions Our VUS Within lamina seem be more closely incidence arrhythmias. Therefore, further studies necessary definition all also carry differential diagnosis broad spectrum cardiomyopathies.

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ژورنال

عنوان ژورنال: European Heart Journal Supplements

سال: 2022

ISSN: ['1520-765X', '1554-2815']

DOI: https://doi.org/10.1093/eurheartjsupp/suac121.407