Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy

HomeCirculationVol. 147, No. 22Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy No AccessLetterRequest AccessFull TextAboutView Full TextView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toNo AccessLetterRequest AccessFull TextTitin Missense Variants as a Cause of Familial Dilated Cardiomyopathy Fernando Domínguez, Laura Lalaguna, Inés Martínez-Martín, Jesús Piqueras-Flores, Torsten Bloch Rasmussen, Esther Zorio, Giovanna Giovinazzo, Belen Prados, Juan Pablo Ochoa, Belen Bornstein, Esther González-López, Diana Velázquez-Carreras, Maria Rosaria Pricolo, Francisco Gutiérrez-Agüera, Juan Antonio Bernal, Elías Herrero-Galán, Jorge Alegre-Cebollada, Enrique Lara-Pezzi and Pablo García-Pavía Fernando DomínguezFernando Domínguez Correspondence to: Fernando Domínguez, MD, PhD, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla, 2, Majadahonda, Madrid, 28222, Spain, Email E-mail Address: [email protected] https://orcid.org/0000-0001-8408-363X Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain (F.D., B.B., E.G.-L., P.G.-P.). Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). CIBER Cardiovascular Diseases (CIBERCV), Madrid, Spain (F.D., E.Z., E.G.-L., E.L.-P., P.G.-P.). Search for more papers by this author , Laura LalagunaLaura Lalaguna https://orcid.org/0000-0002-4737-358X Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). Search for more papers by this author , Inés Martínez-MartínInés Martínez-Martín https://orcid.org/0000-0001-5818-9545 Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). Search for more papers by this author , Jesús Piqueras-FloresJesús Piqueras-Flores https://orcid.org/0000-0002-2215-740X Unidad de Cardiopatías Familiares. Servicio de Cardiología. Hospital Universitario de Ciudad Real, Spain (J.P.-F.). Facultad de Medicina de Ciudad Real. Universidad de Castilla La Mancha, Spain (J.P.-F.). Search for more papers by this author , Torsten Bloch RasmussenTorsten Bloch Rasmussen Department of Cardiology, Aarhus University Hospital, Denmark (T.B.R.). Search for more papers by this author , Esther ZorioEsther Zorio https://orcid.org/0000-0003-3608-4210 CIBER Cardiovascular Diseases (CIBERCV), Madrid, Spain (F.D., E.Z., E.G.-L., E.L.-P., P.G.-P.). Unidad de Cardiopatías Familiares, Muerte Súbita y Mecanismos de Enfermedad (CaFaMuSMe), Instituto de Investigación Sanitaria La Fe, Servicio de Cardiología, Hospital Universitario y Politécnico La Fe, Valencia, Spain (E.Z.). Search for more papers by this author , Giovanna GiovinazzoGiovanna Giovinazzo https://orcid.org/0000-0002-5391-0441 Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). Search for more papers by this author , Belen PradosBelen Prados Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). Search for more papers by this author , Juan Pablo OchoaJuan Pablo Ochoa Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). Search for more papers by this author , Belen BornsteinBelen Bornstein https://orcid.org/0000-0003-1791-1567 Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain (F.D., B.B., E.G.-L., P.G.-P.). Search for more papers by this author , Esther González-LópezEsther González-López Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain (F.D., B.B., E.G.-L., P.G.-P.). CIBER Cardiovascular Diseases (CIBERCV), Madrid, Spain (F.D., E.Z., E.G.-L., E.L.-P., P.G.-P.). Search for more papers by this author , Diana Velázquez-CarrerasDiana Velázquez-Carreras Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). Search for more papers by this author , Maria Rosaria PricoloMaria Rosaria Pricolo https://orcid.org/0000-0002-6362-780X Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). Search for more papers by this author , Francisco Gutiérrez-AgüeraFrancisco Gutiérrez-Agüera Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). Search for more papers by this author , Juan Antonio BernalJuan Antonio Bernal https://orcid.org/0000-0002-9933-5550 Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). Search for more papers by this author , Elías Herrero-GalánElías Herrero-Galán https://orcid.org/0000-0003-1916-6185 Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). Search for more papers by this author , Jorge Alegre-CebolladaJorge Alegre-Cebollada https://orcid.org/0000-0003-0542-0170 Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). Search for more papers by this author , Enrique Lara-PezziEnrique Lara-Pezzi https://orcid.org/0000-0002-2743-1033 Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). CIBER Cardiovascular Diseases (CIBERCV), Madrid, Spain (F.D., E.Z., E.G.-L., E.L.-P., P.G.-P.). Search for more papers by this author and Pablo García-PavíaPablo García-Pavía Pablo Gracía-Pavía, MD, PhD, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla, 2, Majadahonda, Madrid, 28222, Spain, Email E-mail Address: [email protected] https://orcid.org/0000-0002-5470-2257 Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain (F.D., B.B., E.G.-L., P.G.-P.). Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain (F.D., L.L., I.M.-M., G.G., B.P., J.P.O., D.V.-C., M.R.P., F.G.-A., J.A.B., E.H.-G., J.A.-C., E.L.-P., P.G.-P.). CIBER Cardiovascular Diseases (CIBERCV), Madrid, Spain (F.D., E.Z., E.G.-L., E.L.-P., P.G.-P.). Universidad Francisco de Vitoria (UFV), Pozuelo de Alarcón, Spain (P.G.-P.). Search for more papers by this author Originally published30 May 2023https://doi.org/10.1161/CIRCULATIONAHA.122.062833Circulation. 2023;147:1711–1713FootnotesFor Sources of Funding and Disclosures, see page 1713.Circulation is available at www.ahajournals.org/journal/circCorrespondence to: Fernando Domínguez, MD, PhD, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla, 2, Majadahonda, Madrid, 28222, Spain, Email fdominguezrodriguez@gmail.comPablo Gracía-Pavía, MD, PhD, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla, 2, Majadahonda, Madrid, 28222, Spain, Email pablogpavia@yahoo.esReferences1. Escobar-Lopez L, Ochoa JP, Mirelis JG, Espinosa MA, Navarro M, Gallego-Delgado M, Barriales-Villa R, Robles-Mezcua A, Basurte-Elorz MT, Gutiérrez García-Moreno L, et al. Association of genetic variants with outcomes in patients with nonischemic dilated cardiomyopathy.J Am Coll Cardiol. 2021; 78:1682–1699. doi: 10.1016/j.jacc.2021.08.039CrossrefMedlineGoogle Scholar2. Morales A, Kinnamon DD, Jordan E, Platt J, Vatta M, Dorschner MO, Starkey CA, Mead JO, Ai T, Burke W, et al; DCM Precision Medicine study of the DCM Consortium. Variant interpretation for dilated cardiomyopathy: refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.Circ Genom Precis Med. 2020; 13:e002480. doi: 10.1161/CIRCGEN.119.002480LinkGoogle Scholar3. Hinson JT, Chopra A, Nafissi N, Polacheck WJ, Benson CC, Swist S, Gorham J, Yang L, Schafer S, Sheng CC, et al. HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.Science. 2015; 349:982–986. doi: 10.1126/science.aaa5458CrossrefMedlineGoogle Scholar4. Gerull B, Gramlich M, Atherton J, McNabb M, Trombitás K, Sasse-Klaassen S, Seidman JG, Seidman C, Granzier H, Labeit S, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.Nat Genet. 2002; 30:201–204. doi: 10.1038/ng815CrossrefMedlineGoogle Scholar5. Akinrinade O, Heliö T, Lekanne Deprez RH, Jongbloed JDH, Boven LG, van den Berg MP, Pinto YM, Alastalo TP, Myllykangas S, Spaendonck-Zwarts KV, et al. Relevance of titin missense and non-frameshifting insertions/deletions variants in dilated cardiomyopathy.Sci Rep. 2019; 9:4093. doi: 10.1038/s41598-019-39911-xCrossrefMedlineGoogle Scholar eLetters(0)eLetters should relate to an article recently published in the journal and are not a forum for providing unpublished data. Comments are reviewed for appropriate use of tone and language. Comments are not peer-reviewed. Acceptable comments are posted to the journal website only. Comments are not published in an issue and are not indexed in PubMed. Comments should be no longer than 500 words and will only be posted online. References are limited to 10. Authors of the article cited in the comment will be invited to reply, as appropriate.Comments and feedback on AHA/ASA Scientific Statements and Guidelines should be directed to the AHA/ASA Manuscript Oversight Committee via its Correspondence page.Sign In to Submit a Response to This Article Previous Back to top Next FiguresReferencesRelatedDetails May 30, 2023Vol 147, Issue 22 Advertisement Article InformationMetrics © 2023 American Heart Association, Inc.https://doi.org/10.1161/CIRCULATIONAHA.122.062833PMID: 37253077 Originally publishedMay 30, 2023 KeywordsTTN protein, humaninduced pluripotent stem cellscardiomyopathy, dilatedPDF download Advertisement SubjectsGenetic, Association Studies