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Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort

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Genetica Molecular, HUCA, 33011 Oviedo, Spain
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Instituto de Investigación Sanitaria del Principado de Asturias—ISPA, 33011 Oviedo, Spain
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Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORs), 28029 Madrid, Spain
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Cardiología, HUCA, 33011 Oviedo, Spain
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CSUR Cardiopatías Familiares HUCA, 33011 Oviedo, Spain
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CIBER-Enfermedades Respiratorias, 28029 Madrid, Spain
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Author to whom correspondence should be addressed.
Academic Editor: Matteo Vatta
Cardiogenetics 2022, 12(2), 198-205; https://doi.org/10.3390/cardiogenetics12020018
Received: 30 December 2021 / Revised: 25 March 2022 / Accepted: 18 April 2022 / Published: 9 May 2022
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2021)
In this study we performed a next generation sequencing of 210 genes in 140 patients with cardiac failure requiring a heart transplantation. We identified a total of 48 candidate variants in 47 patients. Forty-three patients (90%) presented a single variant, and fourpatients (10%) were carriers of two variants. After refining the classification, we identified a pathogenic or likely pathogenic variant in 13 patients (10% of our cohort). In 34 additional cases (25%) the variants were classified as of unknown significance (VUS). In reference to the cause of cardiac failure in the 13 carriers of pathogenic variants, 5 were of dilated non-ischemic cause, 4 hypertrophic and 1 restrictive cardiomyopathy. In the ischemic cases (n = 3) no family history of cardiac disease was recorded, while nineof the non-ischemic had other relatives who were also diagnosed. In conclusion, the NGS of a cardiac transplanted cohort identified a definite or very likely genetic cause in 10% of the cases. Most of them had a family history of cardiac disease, and were thus previously studied as part of a routine screening by a genetic counselor. Pathogenic variants in cases without a family history of cardiac disease were mainly of ischemic origin. View Full-Text
Keywords: heart failure; heart transplant; familial cardiomyopathy; genetic screening heart failure; heart transplant; familial cardiomyopathy; genetic screening
MDPI and ACS Style

Cuesta-Llavona, E.; Lorca, R.; Díaz-Molina, B.; Lambert-Rodríguez, J.L.; Reguero, J.R.; Iglesias, S.; Alonso, B.; Junco-Vicente, A.; Alonso, V.; Coto, E.; Gómez, J. Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort. Cardiogenetics 2022, 12, 198-205. https://doi.org/10.3390/cardiogenetics12020018

AMA Style

Cuesta-Llavona E, Lorca R, Díaz-Molina B, Lambert-Rodríguez JL, Reguero JR, Iglesias S, Alonso B, Junco-Vicente A, Alonso V, Coto E, Gómez J. Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort. Cardiogenetics. 2022; 12(2):198-205. https://doi.org/10.3390/cardiogenetics12020018

Chicago/Turabian Style

Cuesta-Llavona, Elías, Rebeca Lorca, Beatriz Díaz-Molina, José L. Lambert-Rodríguez, Julián R. Reguero, Sara Iglesias, Belén Alonso, Alejandro Junco-Vicente, Vanesa Alonso, Eliecer Coto, and Juan Gómez. 2022. "Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort" Cardiogenetics 12, no. 2: 198-205. https://doi.org/10.3390/cardiogenetics12020018

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