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| Pàgina inicial > Articles > Articles publicats > Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure |
(University College London) (University College London) (University College London) (Hospital Universitario Virgen de las Nieves (Granada)) (Newcastle Upon Tyne Hospitals NHS Trust (Newcastle, Regne Unit)) (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) (Hospital Universitari Vall d'Hebron) (Hospital Universitari Vall d'Hebron) (Complejo Hospitalario Universitario de A Coruña) (Hospital Universitario Virgen de las Nieves (Granada)) (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) (Hôpital Pitié-Salpêtrière (Paris, France)) (IRCCS Azienda Ospedaliero-Universitaria di Bologna) (University College London) (Hospital de la Pitié-Salpêtrière (París, França)) (University College London)
| Data: | 2023 |
| Resum: | Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants. Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidences in male and female variant-carriers were determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMD ) were compared with consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNA ). Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers [mean (SD) ages 33. 4 (13. 3) and 43. 3 (16. 8) years, respectively]. Nine (23. 7%) males developed MVA and five (13. 2%) developed ESHF during a median (inter-quartile range) follow-up of 65. 0 (24. 3-109. 5) months. No female EMD variant-carrier had MVA or ESHF, but nine (42. 8%) developed a cardiac phenotype at a median (inter-quartile range) age of 58. 6 (53. 2-60. 4) years. Incidence rates for MVA were similar for EMD and LMNA (4. 8 and 6. 6 per 100 person-years, respectively; log-rank P =. 49). Incidence rates for ESHF were 2. 4 and 5. 9 per 100 person-years for EMD and LMNA , respectively (log-rank P =. 09). Male EMD variant-carriers have a risk of progressive heart failure and ventricular arrhythmias similar to that of male LMNA variant-carriers. Early implantable cardioverter defibrillator implantation and heart failure drug therapy should be considered in male EMD variant-carriers with cardiac disease. |
| Ajuts: | British Heart Foundation FS/CRTF/20/24022 Italian Ministry of Health FS/CRTF/20/24022 National Institutes of Health R01HL69071 National Institutes of Health R01HL116906 National Institutes of Health R01HL147064 National Institutes of Health NIH/NCATS UL1 TR002535 National Institutes of Health UL1 TR001082 Rose Foundation UL1 TR001082 |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Matèria: | Emery-Dreifuss muscular dystrophy ; Emerin ; Cardiomyopathy ; Sudden death ; Ventricular arrhythmia ; Heart failure |
| Publicat a: | European heart journal, Vol. 44 (august 2023) , p. 5064-5073, ISSN 1522-9645 |
