Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy
Abstract Objective Mitochondrial DNA mutations are associated with an increased risk of heart disease. Whether an increased prevalence of cardiovascular disease is present in patients presenting with mitochondrial abnormalities on skeletal muscle biopsy remains unknown. This study was designed to de...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-04-01
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| Series: | Annals of Clinical and Translational Neurology |
| Online Access: | https://doi.org/10.1002/acn3.51327 |
| _version_ | 1818607618369781760 |
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| author | M. Scott Binder Ricardo H. Roda Andrea M. Corse Sunjeet Sidhu Sarah Stewart Andreas S. Barth |
| author_facet | M. Scott Binder Ricardo H. Roda Andrea M. Corse Sunjeet Sidhu Sarah Stewart Andreas S. Barth |
| author_sort | M. Scott Binder |
| collection | DOAJ |
| description | Abstract Objective Mitochondrial DNA mutations are associated with an increased risk of heart disease. Whether an increased prevalence of cardiovascular disease is present in patients presenting with mitochondrial abnormalities on skeletal muscle biopsy remains unknown. This study was designed to determine the prevalence of cardiac conduction disease and structural heart disease in patients presenting with mitochondrial abnormalities on skeletal muscle biopsy. Methods This is a retrospective cohort study of 103 patients with mitochondrial abnormalities on skeletal muscle biopsy who were referred for evaluation of muscle weakness at a single tertiary care referral center from 2012 to 2018. Of these patients, 59 (57.3%) had an electrocardiogram available and were evaluated for the presence of conduction disease. An echocardiogram was available in 43 patients (42%) who were evaluated for the presence of structural heart disease. The prevalence of cardiac disease was compared to control cohort populations (Framingham and the Atherosclerosis Risk in Communities, ARIC cohorts). Results Mitochondrial abnormalities associated with cardiac conduction disease (defined as QRS duration ≥ 120 msec) were present in 8.9%, versus 2.0% (p < 0.001) in the Framingham population and 2.6% (p = 0.003) in the ARIC cohort. LV systolic dysfunction (LVEF ≤ 50%) was present in 11.6%, versus 3.6% (p < 0.01) in the Framingham and 3% (p < 0.01) in the ARIC populations. Left ventricular hypertrophy was present in 28.6%, versus 13.6% (p < 0.02) in the Framingham and 10.4% (p < 0.001) in the ARIC populations. Interpretation Given the increased prevalence of cardiovascular disease, patients with mitochondrial abnormalities on skeletal muscle biopsy should undergo routine cardiac screening with physical exam, electrocardiography, and cardiac imaging. |
| first_indexed | 2024-12-16T14:29:37Z |
| format | Article |
| id | doaj.art-5689e1bb9b62442fb819a3992861aeae |
| institution | Directory Open Access Journal |
| issn | 2328-9503 |
| language | English |
| last_indexed | 2024-12-16T14:29:37Z |
| publishDate | 2021-04-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of Clinical and Translational Neurology |
| spelling | doaj.art-5689e1bb9b62442fb819a3992861aeae2022-12-21T22:28:16ZengWileyAnnals of Clinical and Translational Neurology2328-95032021-04-018482583010.1002/acn3.51327Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsyM. Scott Binder0Ricardo H. Roda1Andrea M. Corse2Sunjeet Sidhu3Sarah Stewart4Andreas S. Barth5Department of Medicine Johns Hopkins Bayview Medical Center Baltimore MarylandUSADepartment of Neurology Johns Hopkins University School of Medicine Baltimore MarylandUSADepartment of Neurology Johns Hopkins University School of Medicine Baltimore MarylandUSADepartment of Medicine, Division of Cardiology Johns Hopkins University School of Medicine Baltimore MarylandUSADepartment of Neurology Johns Hopkins University School of Medicine Baltimore MarylandUSADepartment of Medicine, Division of Cardiology Johns Hopkins University School of Medicine Baltimore MarylandUSAAbstract Objective Mitochondrial DNA mutations are associated with an increased risk of heart disease. Whether an increased prevalence of cardiovascular disease is present in patients presenting with mitochondrial abnormalities on skeletal muscle biopsy remains unknown. This study was designed to determine the prevalence of cardiac conduction disease and structural heart disease in patients presenting with mitochondrial abnormalities on skeletal muscle biopsy. Methods This is a retrospective cohort study of 103 patients with mitochondrial abnormalities on skeletal muscle biopsy who were referred for evaluation of muscle weakness at a single tertiary care referral center from 2012 to 2018. Of these patients, 59 (57.3%) had an electrocardiogram available and were evaluated for the presence of conduction disease. An echocardiogram was available in 43 patients (42%) who were evaluated for the presence of structural heart disease. The prevalence of cardiac disease was compared to control cohort populations (Framingham and the Atherosclerosis Risk in Communities, ARIC cohorts). Results Mitochondrial abnormalities associated with cardiac conduction disease (defined as QRS duration ≥ 120 msec) were present in 8.9%, versus 2.0% (p < 0.001) in the Framingham population and 2.6% (p = 0.003) in the ARIC cohort. LV systolic dysfunction (LVEF ≤ 50%) was present in 11.6%, versus 3.6% (p < 0.01) in the Framingham and 3% (p < 0.01) in the ARIC populations. Left ventricular hypertrophy was present in 28.6%, versus 13.6% (p < 0.02) in the Framingham and 10.4% (p < 0.001) in the ARIC populations. Interpretation Given the increased prevalence of cardiovascular disease, patients with mitochondrial abnormalities on skeletal muscle biopsy should undergo routine cardiac screening with physical exam, electrocardiography, and cardiac imaging.https://doi.org/10.1002/acn3.51327 |
| spellingShingle | M. Scott Binder Ricardo H. Roda Andrea M. Corse Sunjeet Sidhu Sarah Stewart Andreas S. Barth Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy Annals of Clinical and Translational Neurology |
| title | Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy |
| title_full | Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy |
| title_fullStr | Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy |
| title_full_unstemmed | Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy |
| title_short | Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy |
| title_sort | prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy |
| url | https://doi.org/10.1002/acn3.51327 |
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