-
Je něco špatně v tomto záznamu ?
Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy
MA. Restrepo-Cordoba, K. Wahbi, AR. Florian, J. Jiménez-Jáimez, L. Politano, M. Arad, V. Climent-Paya, A. Garcia-Alvarez, RB. Hansen, JM. Larrañaga-Moreira, M. Kubanek, LR. Lopes, A. Ros, R. Jurcut, TB. Rasmussen, L. Ruiz-Guerrero, R....
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
Medical Research Council - United Kingdom
Odkazy
PubMed
34050592
DOI
10.1002/ejhf.2250
Knihovny.cz E-zdroje
- MeSH
- dilatační kardiomyopatie * epidemiologie genetika MeSH
- dospělí MeSH
- dystrofin genetika MeSH
- funkce levé komory srdeční MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nemoci svalů * MeSH
- prevalence MeSH
- retrospektivní studie MeSH
- srdeční selhání * epidemiologie MeSH
- tepový objem MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
AIMS: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy. METHODS AND RESULTS: At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years). A total of 112 individuals (52%) had DCM at first evaluation [n = 85; left ventricular ejection fraction (LVEF) 34 ± 11.2%] or developed DCM (n = 27; LVEF 41.3 ± 7.5%) after a median follow-up of 96 months (interquartile range 5-311 months). DCM penetrance was 45% in carriers older than 40 years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end-stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end-diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow-up. CONCLUSIONS: DMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.
Barts Heart Centre St Bartholomew's Hospital Barts Health NHS Trust London UK
Cardiology Department ASST Papa Giovanni XXIII Bergamo Italy
Cardiology Department Health in Code A Coruña Spain
Cardiology Department Hospital Universitario Virgen de las Nieves Granada Spain
Cardiomyology and Medical Genetics University of Campania Luigi Vanvitelli Naples Italy
Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares Madrid Spain
Centro Nacional de Investigaciones Cardiovasculares Madrid Spain
Department of Cardiology Aarhus University Hospital Aarhus Denmark
Department of Cardiology Hospital Universitario Marqués de Valdecilla IDIVAL Santander Spain
Department of Cardiology Institute for Clinical and Experimental Medicine Prague Czech Republic
Department of Cardiology Odense University Hospital Odense Denmark
Department of Paediatric Cardiology Meyer Children's Hospital Florence Italy
Heart Area Complejo Hospitalario de Navarra Pamplona Spain
Hospital Universitario Araba Txagorritxu Vitoria Spain
Institut Clinic Cardiovascular IDIBAPS Hospital Clínic University of Barcelona Barcelona Spain
Institute for Cardiomyopathies Heidelberg University Hospital Heidelberg Heidelberg Germany
Medical Science Department School of Medicine University of Girona Girona Spain
Referral Center of Neuromuscular Diseases Myology Institute Pitié Salpêtrière Hospital Paris France
Stanford University School of Medicine Department of Genetics Stanford CA USA
- 000
- 00000naa a2200000 a 4500
- 001
- bmc21025207
- 003
- CZ-PrNML
- 005
- 20211026134025.0
- 007
- ta
- 008
- 211013s2021 xxk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1002/ejhf.2250 $2 doi
- 035 __
- $a (PubMed)34050592
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxk
- 100 1_
- $a Restrepo-Cordoba, Maria A $u Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain $u Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Amsterdam, The Netherlands
- 245 10
- $a Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy / $c MA. Restrepo-Cordoba, K. Wahbi, AR. Florian, J. Jiménez-Jáimez, L. Politano, M. Arad, V. Climent-Paya, A. Garcia-Alvarez, RB. Hansen, JM. Larrañaga-Moreira, M. Kubanek, LR. Lopes, A. Ros, R. Jurcut, TB. Rasmussen, L. Ruiz-Guerrero, R. Pribe-Wolferts, J. Palomino-Doza, Z. Bilinska, JF. Rodríguez-Palomares, RLE. Van Loon, MT. Basurte Elorz, G. Quarta, M. Robledo Iñarritu, JAJ. Verdonschot, T. Stojkovic, Z. Shomanova, F. Bermudez-Jimenez, A. Palladino, D. Freimark, MI. García-Álvarez, P. Jorda, F. Dominguez, JP. Ochoa, F. Girolami, R. Brugada, B. Meder, R. Barriales-Villa, J. Mogensen, P. Laforêt, A. Yilmaz, P. Elliott, P. Garcia-Pavia, European Genetic Cardiomyopathies Initiative Investigators (see online supplementary Appendix S1)
- 520 9_
- $a AIMS: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy. METHODS AND RESULTS: At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years). A total of 112 individuals (52%) had DCM at first evaluation [n = 85; left ventricular ejection fraction (LVEF) 34 ± 11.2%] or developed DCM (n = 27; LVEF 41.3 ± 7.5%) after a median follow-up of 96 months (interquartile range 5-311 months). DCM penetrance was 45% in carriers older than 40 years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end-stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end-diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow-up. CONCLUSIONS: DMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.
- 650 _2
- $a mladiství $7 D000293
- 650 _2
- $a dospělí $7 D000328
- 650 12
- $a dilatační kardiomyopatie $x epidemiologie $x genetika $7 D002311
- 650 _2
- $a dystrofin $x genetika $7 D016189
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 12
- $a srdeční selhání $x epidemiologie $7 D006333
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a lidé středního věku $7 D008875
- 650 12
- $a nemoci svalů $7 D009135
- 650 _2
- $a prevalence $7 D015995
- 650 _2
- $a retrospektivní studie $7 D012189
- 650 _2
- $a tepový objem $7 D013318
- 650 _2
- $a funkce levé komory srdeční $7 D016277
- 650 _2
- $a mladý dospělý $7 D055815
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Wahbi, Karim $u APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France
- 700 1_
- $a Florian, Anca R $u Division of Cardiovascular Imaging, Department of Cardiology I, University Hospital Muenster, Muenster, Germany
- 700 1_
- $a Jiménez-Jáimez, Juan $u Cardiology Department, Hospital Universitario Virgen de las Nieves, Granada, Spain
- 700 1_
- $a Politano, Luisa $u Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy
- 700 1_
- $a Arad, Michael $u Leviev Heart Center, Sheba Medical Center and The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
- 700 1_
- $a Climent-Paya, Vicente $u Cardiology Department, University General Hospital of Alicante, Alicante, Spain. Institute of Health and Biomedical Research (ISABIAL), Alicante, Spain
- 700 1_
- $a Garcia-Alvarez, Ana $u Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain $u Institut Clinic Cardiovascular, IDIBAPS, Hospital Clínic, University of Barcelona, Barcelona, Spain
- 700 1_
- $a Hansen, Rasmus B $u Department of Cardiology, Odense University Hospital, Odense, Denmark
- 700 1_
- $a Larrañaga-Moreira, José M $u Inherited Cardiovascular Diseases Unit, Cardiology Service, Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Biomédica de A Coruña (INIBIC), Universidade da Coruña, A Coruña, Spain
- 700 1_
- $a Kubanek, Milos $u Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic
- 700 1_
- $a Lopes, Luis R $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Amsterdam, The Netherlands $u Barts Heart Centre, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK $u Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK
- 700 1_
- $a Ros, Andrea $u Cardiogenetics Unit, Clinical Genetics Department, University Hospital Germans Trias i Pujol, Badalona, Spain
- 700 1_
- $a Jurcut, Ruxandra $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Amsterdam, The Netherlands $u Expert Center for Rare Cardiovascular Genetic Diseases, 3rd Cardiology Department, Emergency Institute for Cardiovascular Diseases "Prof. Dr. C.C. Iliescu", Bucharest, Romania
- 700 1_
- $a Rasmussen, Torsten B $u Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark
- 700 1_
- $a Ruiz-Guerrero, Luis $u Department of Cardiology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain
- 700 1_
- $a Pribe-Wolferts, Regina $u Institute for Cardiomyopathies Heidelberg, University Hospital Heidelberg, Heidelberg, Germany
- 700 1_
- $a Palomino-Doza, Julian $u Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain $u Inherited cardiac diseases unit, Cardiology Department, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, Madrid, Spain
- 700 1_
- $a Bilinska, Zofia $u Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, Warsaw, Poland
- 700 1_
- $a Rodríguez-Palomares, José F $u Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain $u Hospital Universitari Vall d'Hebron, Department of Cardiology, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain
- 700 1_
- $a Van Loon, Rosa L E $u Department of Genetics, University Medical Center Utrecht, University of Utrecht, Utrecht, The Netherlands
- 700 1_
- $a Basurte Elorz, María Teresa $u Heart Area, Complejo Hospitalario de Navarra, Pamplona, Spain
- 700 1_
- $a Quarta, Giovanni $u Cardiology Department, ASST Papa Giovanni XXIII, Bergamo, Italy
- 700 1_
- $a Robledo Iñarritu, Maria $u Hospital Universitario Araba - Txagorritxu, Vitoria, Spain
- 700 1_
- $a Verdonschot, Job A J $u Department of Cardiology and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
- 700 1_
- $a Stojkovic, Tanya $u Referral Center of Neuromuscular Diseases, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France
- 700 1_
- $a Shomanova, Zornitsa $u Division of Cardiovascular Imaging, Department of Cardiology I, University Hospital Muenster, Muenster, Germany
- 700 1_
- $a Bermudez-Jimenez, Francisco $u Cardiology Department, Hospital Universitario Virgen de las Nieves, Granada, Spain
- 700 1_
- $a Palladino, Alberto $u Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy
- 700 1_
- $a Freimark, Dov $u Leviev Heart Center, Sheba Medical Center and The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
- 700 1_
- $a García-Álvarez, Maria I $u Cardiology Department, University General Hospital of Alicante, Alicante, Spain. Institute of Health and Biomedical Research (ISABIAL), Alicante, Spain
- 700 1_
- $a Jorda, Paloma $u Institut Clinic Cardiovascular, IDIBAPS, Hospital Clínic, University of Barcelona, Barcelona, Spain
- 700 1_
- $a Dominguez, Fernando $u Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain $u Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Amsterdam, The Netherlands
- 700 1_
- $a Ochoa, Juan Pablo $u Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain $u Cardiology Department, Health in Code, A Coruña, Spain
- 700 1_
- $a Girolami, Francesca $u Department of Paediatric Cardiology, Meyer Children's Hospital, Florence, Italy
- 700 1_
- $a Brugada, Ramon $u Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain $u Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitari Dr Josep Trueta, Girona, Spain $u Medical Science Department, School of Medicine, University of Girona, Girona, Spain
- 700 1_
- $a Meder, Benjamin $u Institute for Cardiomyopathies Heidelberg, University Hospital Heidelberg, Heidelberg, Germany $u Stanford University School of Medicine, Department of Genetics, Stanford, CA, USA
- 700 1_
- $a Barriales-Villa, Roberto $u Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain $u Inherited Cardiovascular Diseases Unit, Cardiology Service, Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Biomédica de A Coruña (INIBIC), Universidade da Coruña, A Coruña, Spain
- 700 1_
- $a Mogensen, Jens $u Department of Cardiology, Odense University Hospital, Odense, Denmark
- 700 1_
- $a Laforêt, Pascal $u APHP, Hôpital Raymond Poincaré, Centre de Référence des Maladies Neuromusculaires Nord-Est-Île de France, Garches, France
- 700 1_
- $a Yilmaz, Ali $u Division of Cardiovascular Imaging, Department of Cardiology I, University Hospital Muenster, Muenster, Germany
- 700 1_
- $a Elliott, Perry $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Amsterdam, The Netherlands $u Barts Heart Centre, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK $u Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK
- 700 1_
- $a Garcia-Pavia, Pablo $u Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain $u Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain $u European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Amsterdam, The Netherlands $u Universidad Francisco de Vitoria (UFV), Pozuelo de Alarcon, Spain $u Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain
- 710 2_
- $a European Genetic Cardiomyopathies Initiative Investigators (see online supplementary Appendix S1)
- 773 0_
- $w MED00006634 $t European journal of heart failure $x 1879-0844 $g Roč. 23, č. 8 (2021), s. 1276-1286
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/34050592 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20211013 $b ABA008
- 991 __
- $a 20211026134030 $b ABA008
- 999 __
- $a ok $b bmc $g 1714315 $s 1145714
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2021 $b 23 $c 8 $d 1276-1286 $e 20210609 $i 1879-0844 $m European journal of heart failure $n Eur J Heart Fail $x MED00006634
- GRA __
- $p Medical Research Council $2 United Kingdom
- LZP __
- $a Pubmed-20211013