Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
Por:
Moore, U, Fernandez-Torron, R, Jacobs, M, Gordish-Dressman, H, Diaz-Manera, J, James, MK, Mayhew, AG, Harris, E, Guglieri, M, Rufibach, LE, Feng, J, Blamire, AM, Carlier, PG, Spuler, S, Day, JW, Jones, KJ, Bharucha-Goebel, DX, Salort-Campana, E, Pestronk, A, Walter, MC, Paradas, C, Stojkovic, T, Mori-Yoshimura, M, Bravver, E, Pegoraro, E, Lowes, LP, Mendell, JR, Bushby, K, Bourke, J, Straub, V, Jain COS Consortium
Publicada:
1 may 2022
Ahead of Print:
1 mar 2022
Resumen:
Introduction/Aims There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype. Methods As part of the Jain Foundation's International Clinical Outcome Study (COS) for dysferlinopathy, objective measures of respiratory and cardiac function were collected twice, with a 3-y interval between tests, in 188 genetically confirmed patients aged 11-86 y (53% female). Measures included forced vital capacity (FVC), electrocardiogram (ECG), and echocardiogram (echo). Results Mean FVC was 90% predicted at baseline, decreasing to 88% at year 3. FVC was less than 80% predicted in 44 patients (24%) at baseline and 48 patients (30%) by year 3, including ambulant participants. ECGs showed P-wave abnormalities indicative of delayed trans-atrial conduction in 58% of patients at baseline, representing a risk for developing atrial flutter or fibrillation. The prevalence of impaired left ventricular function or hypertrophy was comparable to that in the general population. Discussion These results demonstrate clinically significant respiratory impairment and abnormal atrial conduction in some patients with dysferlinopathy. Therefore, we recommend that annual or biannual follow-up should include FVC measurement, enquiry about arrhythmia symptoms and peripheral pulse palpation to assess cardiac rhythm. However, periodic specialist cardiac review is probably not warranted unless prompted by symptoms or abnormal pulse findings.
Filiaciones:
Moore, U:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England
Fernandez-Torron, R:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England
Hosp Donostia, Biodonostia Hlth Res Inst, Neurol Dept, Basque Hlth Serv,Neuromuscular Area, Donostia San Sebastian, Spain
Jacobs, M:
Childrens Natl Hlth Syst, Div Biostat & Study Methodol, Ctr Translat Sci, Washington, DC USA
George Washington Univ, Pediat Epidemiol & Biostat, Washington, DC USA
Gordish-Dressman, H:
Childrens Natl Hlth Syst, Div Biostat & Study Methodol, Ctr Translat Sci, Washington, DC USA
George Washington Univ, Pediat Epidemiol & Biostat, Washington, DC USA
Diaz-Manera, J:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain
Hosp Santa Creu & Sant Pau, Neuromuscular Disorders Unit, Neurol Dept, Barcelona, Spain
James, MK:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England
Mayhew, AG:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England
Harris, E:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England
Guglieri, M:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England
Rufibach, LE:
Jain Fdn, Seattle, WA USA
Feng, J:
Childrens Natl Hlth Syst, Div Biostat & Study Methodol, Ctr Translat Sci, Washington, DC USA
Blamire, AM:
Newcastle Univ, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England
Carlier, PG:
Univ Paris Saclay, Serv Hosp Freder Joliot, DRF, CEA, Orsay, France
Spuler, S:
Expt & Clin Res Ctr, Charite Muscle Res Unit, Berlin, Germany
Day, JW:
Stanford Univ, Sch Med, Dept Neurol & Neurol Sci, Stanford, CA 94305 USA
Jones, KJ:
Childrens Hosp Westmead, Westmead, NSW, Australia
Univ Sydney, Westmead, NSW, Australia
Bharucha-Goebel, DX:
Childrens Natl Hlth Syst, Dept Neurol, Washington, DC USA
NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA
Salort-Campana, E:
Hop La Timone, Serv Malad Neuromusculaire & SLA, Marseille, France
Pestronk, A:
Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA
Walter, MC:
Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Dept Neurol, Munich, Germany
Paradas, C:
Hosp U Virgen del Rocio, Inst Biomed Sevilla, Dept Neurol, Neuromuscular Unit, Seville, Spain
Stojkovic, T:
Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Myol,Ctr Reference Malad Neuromusculaires, Paris, France
Mori-Yoshimura, M:
Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Dept Neurol, Tokyo, Japan
Bravver, E:
Carolinas HealthCare Syst, Carolinas Neuromuscular ALS MDA Ctr, Neurosci Inst, Charlotte, NC USA
Pegoraro, E:
Univ Padua, Dept Neurosci, Padua, Italy
Lowes, LP:
Nationwide Childrens Hosp, Abigail Wexner Res Inst, Columbus, OH USA
Mendell, JR:
Nationwide Childrens Hosp, Abigail Wexner Res Inst, Columbus, OH USA
Bushby, K:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England
Bourke, J:
NUTH NHS Hosp Fdn Trust, Freeman Hosp, Dept Cardiol, Newcastle Upon Tyne, Tyne & Wear, England
Straub, V:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England
hybrid, All Open Access; Green
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