ArticleCirculation. Genomic and precision medicine2026
Variant Site-Specific Natural History of Titin-Induced Cardiomyopathy: An International Multicenter Registry.
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Article in Circulation. Genomic and precision medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
51 authors.
Maria Perotto *Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Italy (M.P., C.R., A.P., M.G., G.S., M.M., M.D.F.).ORCID 0000-0001-8252-2934
Cinzia Radesich *Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Italy (M.P., C.R., A.P., M.G., G.S., M.M., M.D.F.).ORCID 0000-0003-2345-2758
Alessia PaldinoCardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Italy (M.P., C.R., A.P., M.G., G.S., M.M., M.D.F.).ORCID 0000-0002-5823-3777
Ilaria GandinBiostatistics Unit, University of Trieste, Italy (I.G.).ORCID 0000-0003-3196-2491
Job A J VerdonschotMember of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart (ERN GUARD-Heart) (M.P., C.R., A.P., J.A.J.V., M.G., E. Biagini, R.D., S.H., G.S., M.M., M.D.F.).ORCID 0000-0001-5549-1298
Yuri KimDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (Y.K., I.D.B., B.C., C.Y.H., N.K.L.).ORCID 0000-0001-5978-5779
Iswaree Devi BalakrishnanDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (Y.K., I.D.B., B.C., C.Y.H., N.K.L.).ORCID 0000-0002-1339-434X
Sophie StroekesDepartment of Cardiology, Cardiovascular Research Institute (CARIM), Maastricht University Medical Centre, the Netherlands (J.A.J.V., S. Stroekes, S.H.).ORCID 0000-0003-0965-6359
Kristen MedoCardiovascular Institute & Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (K.M., L.M., M.R.G.T.).ORCID 0009-0007-9785-4668
Marta GigliCardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Italy (M.P., C.R., A.P., M.G., G.S., M.M., M.D.F.).ORCID 0000-0002-3856-937X
Stefania LenarduzziInstitute for Maternal & Child Health-IRCCS (S.L., G.G.).ORCID 0000-0001-8450-1694
Giorgia GirottoInstitute for Maternal & Child Health-IRCCS (S.L., G.G.).ORCID 0000-0003-4507-6589
Brian ClaggettDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (Y.K., I.D.B., B.C., C.Y.H., N.K.L.).ORCID 0009-0009-1748-4340
Enrico AmmiratiDe Gasperis Cardio Center & Transplant Center, Niguarda Hospital, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy (E.A., P.G.).ORCID 0000-0002-1676-5257
Andrea BarisonCardiology Division, Fondazione Toscana Gabriele Monasterio, Pisa, Italy (A.B.).ORCID 0000-0001-9042-340X
Edoardo BerteroCardiovascular Unit, Department of Internal Medicine, University of Genova, Italy (E. Bertero, M.C.).ORCID 0000-0002-3175-8151
Elena BiaginiMember of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart (ERN GUARD-Heart) (M.P., C.R., A.P., J.A.J.V., M.G., E. Biagini, R.D., S.H., G.S., M.M., M.D.F.).ORCID 0000-0003-0295-0440
Marco CanepaCardiovascular Unit, Department of Internal Medicine, University of Genova, Italy (E. Bertero, M.C.).ORCID 0000-0001-9063-5576
Stefano CarugoDepartment of Cardio-Thoracic-Vascular Diseases, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (S.C., A. Faggiano).ORCID 0000-0002-5166-0899
Sharlene DayDivision of Cardiovascular Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.D., A.O.).ORCID 0000-0001-9802-7188
Raffaello DitarantoMember of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart (ERN GUARD-Heart) (M.P., C.R., A.P., J.A.J.V., M.G., E. Biagini, R.D., S.H., G.S., M.M., M.D.F.).ORCID 0000-0001-7025-0679
Andrea FaggianoDepartment of Cardio-Thoracic-Vascular Diseases, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (S.C., A. Faggiano).ORCID 0000-0002-3247-3203
Alessandra FornaroCardiomyopathy Unit, Careggi University Hospital, Florence, Italy (A. Fornaro, I.O.).ORCID 0009-0005-2294-0831
Cinzia ForleoInterdisciplinary Department of Medicine (DIM), School of Medicine, University of Bari Aldo Moro, Italy (C.F., A.I.G.).ORCID 0000-0002-9452-4037
Piero GentileDe Gasperis Cardio Center & Transplant Center, Niguarda Hospital, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy (E.A., P.G.).ORCID 0000-0003-3360-3548
Andrea Igoren GuaricciInterdisciplinary Department of Medicine (DIM), School of Medicine, University of Bari Aldo Moro, Italy (C.F., A.I.G.).ORCID 0000-0001-7133-4401
Adam S HelmsDepartment of Internal Medicine, University of Michigan, Ann Arbor (A.S.H., S. Shore).ORCID 0000-0002-0234-6430
Carolyn Y HoDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (Y.K., I.D.B., B.C., C.Y.H., N.K.L.).ORCID 0000-0002-7334-7924
Maria IasconeCardiology Department, Papa Giovanni XXIII Hospital, Bergamo, Italy (M.I., A.I.).ORCID 0000-0002-4707-212X
Annamaria IorioCardiology Department, Papa Giovanni XXIII Hospital, Bergamo, Italy (M.I., A.I.).
Sadiya S KhanDepartment of Medicine-Cardiology, Feinberg School of Medicine, Northwestern University, Chicago, IL (S.S.K., L.W.).ORCID 0000-0003-0643-1859
Kimberly LinDepartment of Pediatrics, The Cardiac Centre, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (K.L., J.R.).ORCID 0000-0003-1582-9797
Luisa MestroniCardiovascular Institute & Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (K.M., L.M., M.R.G.T.).ORCID 0000-0003-1116-2286
Iacopo OlivottoCardiomyopathy Unit, Careggi University Hospital, Florence, Italy (A. Fornaro, I.O.).ORCID 0000-0003-1751-9266
Anjali OwensDivision of Cardiovascular Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.D., A.O.).ORCID 0000-0002-9669-8495
Flavio Luciano RibichiniMolecular Genetics, Cardiovascular Institute & Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora. Division of Cardiology, Department of Medicine, University of Verona, Italy (F.L.R., M.S.).ORCID 0000-0002-6662-0304
Joseph RossanoDepartment of Pediatrics, The Cardiac Centre, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (K.L., J.R.).ORCID 0000-0002-8284-0673
Supriya ShoreDepartment of Internal Medicine, University of Michigan, Ann Arbor (A.S.H., S. Shore).ORCID 0000-0002-5436-6097
Martina SettiMolecular Genetics, Cardiovascular Institute & Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora. Division of Cardiology, Department of Medicine, University of Verona, Italy (F.L.R., M.S.).ORCID 0000-0002-3618-2833
Matthew WheelerStanford Center for Inherited Cardiovascular Disease, CA (M.W., V.N.P.).ORCID 0000-0001-8721-3022
Matthew R G TaylorCardiovascular Institute & Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (K.M., L.M., M.R.G.T.).ORCID 0000-0001-9043-0810
Lisa WilsbacherDepartment of Medicine-Cardiology, Feinberg School of Medicine, Northwestern University, Chicago, IL (S.S.K., L.W.).ORCID 0000-0002-3676-0680
Upasana TayalRoyal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom (U.T., S.P.).ORCID 0000-0003-2262-4626
Victoria N ParikhStanford Center for Inherited Cardiovascular Disease, CA (M.W., V.N.P.).ORCID 0000-0002-5138-5559
Stephane HeymansMember of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart (ERN GUARD-Heart) (M.P., C.R., A.P., J.A.J.V., M.G., E. Biagini, R.D., S.H., G.S., M.M., M.D.F.).ORCID 0000-0001-9477-7803
Sanjay PrasadRoyal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom (U.T., S.P.).ORCID 0000-0002-5637-0727
Italian TTN Consortium and DCM/AC SHaRe Consortium
Gianfranco SinagraCardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Italy (M.P., C.R., A.P., M.G., G.S., M.M., M.D.F.).ORCID 0000-0003-2700-8478
Marco MerloCardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Italy (M.P., C.R., A.P., M.G., G.S., M.M., M.D.F.).ORCID 0000-0002-1022-3131
Neal K Lakdawala *Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (Y.K., I.D.B., B.C., C.Y.H., N.K.L.).ORCID 0000-0001-6458-5421
Matteo Dal Ferro *Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Italy (M.P., C.R., A.P., M.G., G.S., M.M., M.D.F.).ORCID 0000-0002-2310-0448
Funding
Engineering Cardiac spheroids to study LaminopathiesR01HL164634 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI Luisa Mestroni, Matthew R Taylor · 2023 to 2026
$2.8MMissense Variants in Myosin Binding Protein C that Cause Hypertrophic CardiomyopathyR01HL167524 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI Sharlene M Day · 2023 to 2026
$2.8MRisk Alleles in Protein Quality Control Genes as Modifiers of Hypertrophic CardiomyopathyR01HL168841 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI Sharlene M Day · 2024 to 2026
$2.2MCis regulatory variants of haploinsufficiency genes as cardiomyopathy modifiersR01HL171074 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ADAM S HELMS · 2024 to 2026
$2.1MCardiomyocyte phenotype and mechanotransduction in Filamin C gene variants causing arrhythmogenic cardiomyopathyR01HL147064 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI MESTRONI, LUISA, TAYLOR, MATTHEW R · 2020 to 2023
$2.1MSGLT-inhibitors in patients with hypertrophic cardiomyopathyR33HL164376 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI Sharlene M Day · 2024 to 2026
$2.0MSGLT-inhibitors in patients with hypertrophic cardiomyopathyR61HL164376 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI DAY, SHARLENE M · 2023 to 2023
$371kNHLBI NIH HHS R01 HL147064NHLBI NIH HHS R01 HL164634NHLBI NIH HHS R01 HL167524NHLBI NIH HHS R01 HL168841NHLBI NIH HHS R01 HL171074NHLBI NIH HHS R33 HL164376NHLBI NIH HHS R61 HL164376
Abstract
backgroundTitin truncating variants (
methodsWe established an international multicenter registry of phenotypically affected carriers of pathogenic or likely pathogenic
resultsThe study included 467 patients (81% probands, 73% male, median age 47 years, 81% dilated cardiomyopathy phenotype). Most carried
conclusions
Indexed as
automobilesgenotypeheart failuremiddle agedprognosis
Identifiers
What Socratic holds
Textmetadata
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Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.