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Article

A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data

by
Maria Bueno Marinas
†,
Marco Cason
†,
Riccardo Bariani
,
Rudy Celeghin
,
Monica De Gaspari
,
Serena Pinci
,
Alberto Cipriani
,
Ilaria Rigato
,
Alessandro Zorzi
,
Stefania Rizzo
,
Gaetano Thiene
,
Martina Perazzolo Marra
,
Domenico Corrado
,
Cristina Basso
*,
Barbara Bauce
and
Kalliopi Pilichou
Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Int. J. Mol. Sci. 2024, 25(11), 6267; https://doi.org/10.3390/ijms25116267
Submission received: 10 May 2024 / Revised: 31 May 2024 / Accepted: 2 June 2024 / Published: 6 June 2024
(This article belongs to the Special Issue Novel Biomarkers for Cardiovascular Diseases)
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Abstract

Arrhythmogenic cardiomyopathy (ACM) is an inherited myocardial disease at risk of sudden death. Genetic testing impacts greatly in ACM diagnosis, but gene-disease associations have yet to be determined for the increasing number of genes included in clinical panels. Genetic variants evaluation was undertaken for the most relevant non-desmosomal disease genes. We retrospectively studied 320 unrelated Italian ACM patients, including 243 cases with predominant right-ventricular (ARVC) and 77 cases with predominant left-ventricular (ALVC) involvement, who did not carry pathogenic/likely pathogenic (P/LP) variants in desmosome-coding genes. The aim was to assess rare genetic variants in transmembrane protein 43 (TMEM43), desmin (DES), phospholamban (PLN), filamin c (FLNC), cadherin 2 (CDH2), and tight junction protein 1 (TJP1), based on current adjudication guidelines and reappraisal on reported literature data. Thirty-five rare genetic variants, including 23 (64%) P/LP, were identified in 39 patients (16/243 ARVC; 23/77 ALVC): 22 FLNC, 9 DES, 2 TMEM43, and 2 CDH2. No P/LP variants were found in PLN and TJP1 genes. Gene-based burden analysis, including P/LP variants reported in literature, showed significant enrichment for TMEM43 (3.79-fold), DES (10.31-fold), PLN (117.8-fold) and FLNC (107-fold). A non-desmosomal rare genetic variant is found in a minority of ARVC patients but in about one third of ALVC patients; as such, clinical decision-making should be driven by genes with robust evidence. More than two thirds of non-desmosomal P/LP variants occur in FLNC.
Keywords: arrhythmogenic cardiomyopathy; dilated cardiomyopathy; “non-desmosomal” genes; FLNC; TMEM43; DES arrhythmogenic cardiomyopathy; dilated cardiomyopathy; “non-desmosomal” genes; FLNC; TMEM43; DES

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MDPI and ACS Style

Bueno Marinas, M.; Cason, M.; Bariani, R.; Celeghin, R.; De Gaspari, M.; Pinci, S.; Cipriani, A.; Rigato, I.; Zorzi, A.; Rizzo, S.; et al. A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data. Int. J. Mol. Sci. 2024, 25, 6267. https://doi.org/10.3390/ijms25116267

AMA Style

Bueno Marinas M, Cason M, Bariani R, Celeghin R, De Gaspari M, Pinci S, Cipriani A, Rigato I, Zorzi A, Rizzo S, et al. A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data. International Journal of Molecular Sciences. 2024; 25(11):6267. https://doi.org/10.3390/ijms25116267

Chicago/Turabian Style

Bueno Marinas, Maria, Marco Cason, Riccardo Bariani, Rudy Celeghin, Monica De Gaspari, Serena Pinci, Alberto Cipriani, Ilaria Rigato, Alessandro Zorzi, Stefania Rizzo, and et al. 2024. "A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data" International Journal of Molecular Sciences 25, no. 11: 6267. https://doi.org/10.3390/ijms25116267

APA Style

Bueno Marinas, M., Cason, M., Bariani, R., Celeghin, R., De Gaspari, M., Pinci, S., Cipriani, A., Rigato, I., Zorzi, A., Rizzo, S., Thiene, G., Perazzolo Marra, M., Corrado, D., Basso, C., Bauce, B., & Pilichou, K. (2024). A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data. International Journal of Molecular Sciences, 25(11), 6267. https://doi.org/10.3390/ijms25116267

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