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| Name | Class |
|---|---|
| Oesterreichische Muskelforschung | UNKNOWN |
Carriers of Duchenne muscular dystrophy (DMD) often have no severe symptoms of the scelet muscles, but they may develop a poor heart function due to the involvement of the heart muscle. Ultrasound of the heart is recommended, but it can detect a cardiac affection only after the heart has already become weaker. Cardiac magnetic resonance tomography can detect myocardial fibrosis already at preserved heart function and may facilitate early therapy. In our study, diagnosed carriers of DMD will undergo examinations of the heart by blood tests, EKG, heart ultrasound and magnetic resonance at enrollment and after one year in order to assess the extent of cardiac affection and its association with the clinical development.
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| Measure | Description | Time Frame |
|---|---|---|
| T1 mapping | T1 mapping by MOLLI sequences will be performed and compared between study entry and one year follow-up | 1 year |
| Measure | Description | Time Frame |
|---|---|---|
| left ventricular function | left ventricular function on MRI will be compared between study entry and one year follow-up | 1 year |
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Inclusion Criteria:
genetic and/or histological identification as a carrier of DMD age above 18 years able and willing to conform to the requirements of the study provided written informed consent exclusion of pregnancy in women of childbearing potential
Exclusion Criteria:
Claustrophobia Excessive obesity to an extent where CMR cannot be performed Chronic renal failure with a GFR <30 ml/min/1,73m² Implanted pacemakers/defibrillators Severe arrhythmia Inability to cooperate during the CMR Known intolerance to gadolinium Positive pregnancy test Unable or unwilling to conform to the study protocol
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data base of carriers of Duchenne muscular dystrophy
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| Name | Affiliation | Role |
|---|---|---|
| Paul Wexberg, MD | Hospital Rudolfstiftung | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| 2nd Medical Dept., Rudolfstiftung | Vienna | A-1030 | Austria |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 27660108 | Derived | Wexberg P, Avanzini M, Mascherbauer J, Pfaffenberger S, Freudenthaler B, Bittner R, Bernert G, Weidinger F. Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular dystrophy carriers. J Cardiovasc Magn Reson. 2016 Sep 22;18(1):61. doi: 10.1186/s12968-016-0281-y. |
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| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |