Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure

Author:

Akhtar Mohammed Majid12,Lorenzini Massimiliano1,Pavlou Menelaos3,Ochoa Juan Pablo4,O’Mahony Constantinos12,Restrepo-Cordoba Maria Alejandra5678,Segura-Rodriguez Diego9,Bermúdez-Jiménez Francisco9,Molina Pilar10,Cuenca Sofia1112,Ader Flavie1314,Larrañaga-Moreira Jose M.15161718,Sabater-Molina Maria1920,Garcia-Alvarez Maria I.2122,Arantzamendi Larraitz Gaztañaga23,Truszkowska Grazyna24,Ortiz-Genga Martin4,Ruiz Itziar Solla25,Nielsen Søren Kristian26,Rasmussen Torsten Bloch27,Robles Mezcua Ainhoa28,Alvarez-Rubio Jorge29,Eiskjaer Hans27,Gautel Mathias30,Garcia-Pinilla José M.28,Ripoll-Vera Tomas29,Mogensen Jens26,Limeres Freire Javier31,Rodríguez-Palomares Jose F.31,Peña-Peña Maria Luisa32,Rangel-Sousa Diego32,Palomino-Doza Julian33734,Arana Achaga Xabier25,Bilinska Zofia35,Zamarreño Golvano Estibaliz23,Climent Vincent2122,Peñalver Marina Navarro19,Barriales-Villa Roberto15161718,Charron Philippe1436,Yotti Raquel71112,Zorio Esther737,Jiménez-Jáimez Juan9,Garcia-Pavia Pablo5678,Elliott Perry M.12,

Affiliation:

1. Department of Inherited Cardiovascular Diseases, Bart’s Heart Centre St Bartholomew’s Hospital, London, United Kingdom

2. Institute of Cardiovascular Science, University College London, London, United Kingdom

3. Department of Statistical Science, University College London, London, United Kingdom

4. Health in Code SL, Scientific Department, A Coruña, Spain

5. Department of Cardiology, Universidad Francisco de Vitoria, Pozuelo de Alarcón, Spain

6. Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain

7. Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain

8. European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARDHEART)

9. Cardiology Department, Hospital Universitario Virgen de las Nieves, Granada, Spain

10. Pathology Department, Institute of Legal Medicine and Forensic Sciences of Valencia and Faculty of Medicine of the Universitat de València, CAFAMUSME Research Group, IIS La Fe, Valencia, Spain

11. Hospital General Universitario Gregorio Marañon, Madrid, Spain

12. Instituto de Investigación Sanitarias Gregorio Marañón, Spain

13. APHP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Hôpitaux Universitaires de la Pitié- Salpêtrière- Charles Foix, 47-83 Bd de l’Hôpital, Paris, France

14. Sorbonne Universités, UPMC Univ. Paris 06, INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition, Paris, France

15. Unidad de Cardiopatías Familiares, Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain

16. Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS), A Coruña, Spain

17. Department of Cardiology, Universidade da Coruña, A Coruña, Spain

18. Centro de Investigación Biomédica en Red (CIBERCV), Madrid, Spain

19. Inherited Cardiac Disease Unit, Hospital Universitario Virgen Arrixaca, Murcia, Spain

20. Universidad de Murcia, Murcia, Spain

21. Cardiology Department, University General Hospital of Alicante, Alicante, Spain

22. Institute of Health and Biomedical Research (ISABIAL), Alicante, Spain

23. Hospital Universitario de Basurto, Bilbao, Spain

24. Molecular Biology Laboratory, Department of Medical Biology, The Cardinal Stefan Wyszynski Institute of Cardiology, Warsaw, Poland

25. Cardiology Specialist in Heart Failure and Inherited Cardiac Diseases, Department of Cardiology, Hospital Universitario Donostia, Spain

26. Department of Cardiology, Odense University Hospital, Odense, Denmark

27. Department of Cardiology, Aarhus University Hospital, Hjertesygdomme, Aarhus, Denmark

28. Heart Failure and Familial Heart Diseases Unit, Cardiology Department, Hospital Universitario Virgen de la Victoria, CIBER-CV, IBIMA, Malaga, Spain

29. Inherited Cardiovascular Diseases Unit, Son Llatzer University Hospital & IdISBa, Palma de Mallorca, Spain

30. Randall Institute, King’s College London, London, United Kingdom

31. Department of Cardiology, Vall d’ Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d’ Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain

32. Heart Failure and Heart Transplantation Unit, Virgen del Rocio University Hospital, Sevilla, Spain

33. Hereditary Cardiopathies Unit, Hospital Universitario 12 de Octubre, Madrid, Spain

34. Instituto de Investigación 12 de Octubre i+12, Madrid, Spain

35. Unit for Screening Studies in Inherited Cardiovascular Diseases, The Cardinal Stefan Wyszynski Institute of Cardiology, Warsaw, Poland

36. APHP, Centre de Référence pour les Maladies Cardiaques Héréditaires, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France

37. Cardiology Department at Hospital Universitario y Politécnico La Fe and Research Group on Inherited Heart Diseases, Sudden Death and Mechanisms of Disease (CaFaMuSMe) from the Instituto de Investigación Sanitaria La Fe, Valencia, Spain

Publisher

American Medical Association (AMA)

Subject

Cardiology and Cardiovascular Medicine

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2. Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy;JACC: Clinical Electrophysiology;2024-06

3. Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias;Journal of the American Heart Association;2024-05-21

4. Variable clinical expression of a novel FLNC truncating variant in a large family;International Journal of Cardiology;2024-04

5. Imagenetics for Precision Medicine in Dilated Cardiomyopathy;Circulation: Genomic and Precision Medicine;2024-04

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