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Association between specific dystrophin gene mutations and myocardial fibrosis by cardiovascular magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy

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Duchenne (DMD) and Becker (BMD) muscular dystrophies (MD) are allelic X-linked recessive disorders, caused by mutation of the dystrophin gene located at locus Xp21 that consists of 79 exons, characterized by progressive skeletal muscle degeneration and replacement by fibro fatty tissue... Dystrophin is a sarcolemal protein that links the cytoskeleton to the basal lamina and is essential for maintenance of the muscular membrane integrity during muscular contraction... Cardiac involvement is frequent, 70 - 80% of patients, and often develops clinically silent, without any evident early clinical signs... CMR can identify myocardial fibrosis (MF) and may be useful for detecting the early stages of cardiomyopathy in MD... In a previous study, DNA analyses in 47 pts with DMD revealed significant association between dilated cardiomyopathy (DCM) and specific exons and possible protection against DCM by other exons... The association between specific exons mutation of the dystrophin gene and myocardial fibrosis is until unknown... We enrolled 76 pts, 70 pts DMD and 6 BMD with confirmed muscular dystrophy... Mean age was 13.1 ± 4.4 years... MLPA tests were performed on all these patients. 40 pts showed DNA mutation... All patients underwent CMR study in a 1.5-T Siemens Avanto (Erlangen, Germany), using cine resonance for function evaluation and myocardial delayed enhancement (MDE) technique for myocardial fibrosis detection, 10 min after intravenous bolus of 0.2 mmol/kg of gadolinium-based contrast... Mann Whitney was used for comparison of myocardial fibrosis between the group with mutation in exons < 45 and mutation in exons ≥45... Of the 40 pts with DNA mutation, 16 pts showed mutation below exon 45 and 25 pts in exons on or above 45... There was a significant correlation between the site of mutation in the dystrophin gene and myocardial fibrosis... Mutations in exon ≥ 45 appear to protect against cardiac involvement.

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Myocardial fibrosis quantification in DMD and BMD patients with mutation in exons ≥ 45 and < 45. Fib% - myocardial fibrosis as percent of LV mass Fib g - myocardial fibrosis in grams Fib ml - myocardial fibrosis volume in milliliters No. seg. fib - number of AHA segments with fibrosis.
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Figure 1: Myocardial fibrosis quantification in DMD and BMD patients with mutation in exons ≥ 45 and < 45. Fib% - myocardial fibrosis as percent of LV mass Fib g - myocardial fibrosis in grams Fib ml - myocardial fibrosis volume in milliliters No. seg. fib - number of AHA segments with fibrosis.


Association between specific dystrophin gene mutations and myocardial fibrosis by cardiovascular magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy
Myocardial fibrosis quantification in DMD and BMD patients with mutation in exons ≥ 45 and < 45. Fib% - myocardial fibrosis as percent of LV mass Fib g - myocardial fibrosis in grams Fib ml - myocardial fibrosis volume in milliliters No. seg. fib - number of AHA segments with fibrosis.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4043769&req=5

Figure 1: Myocardial fibrosis quantification in DMD and BMD patients with mutation in exons ≥ 45 and < 45. Fib% - myocardial fibrosis as percent of LV mass Fib g - myocardial fibrosis in grams Fib ml - myocardial fibrosis volume in milliliters No. seg. fib - number of AHA segments with fibrosis.

View Article: PubMed Central - HTML

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Duchenne (DMD) and Becker (BMD) muscular dystrophies (MD) are allelic X-linked recessive disorders, caused by mutation of the dystrophin gene located at locus Xp21 that consists of 79 exons, characterized by progressive skeletal muscle degeneration and replacement by fibro fatty tissue... Dystrophin is a sarcolemal protein that links the cytoskeleton to the basal lamina and is essential for maintenance of the muscular membrane integrity during muscular contraction... Cardiac involvement is frequent, 70 - 80% of patients, and often develops clinically silent, without any evident early clinical signs... CMR can identify myocardial fibrosis (MF) and may be useful for detecting the early stages of cardiomyopathy in MD... In a previous study, DNA analyses in 47 pts with DMD revealed significant association between dilated cardiomyopathy (DCM) and specific exons and possible protection against DCM by other exons... The association between specific exons mutation of the dystrophin gene and myocardial fibrosis is until unknown... We enrolled 76 pts, 70 pts DMD and 6 BMD with confirmed muscular dystrophy... Mean age was 13.1 ± 4.4 years... MLPA tests were performed on all these patients. 40 pts showed DNA mutation... All patients underwent CMR study in a 1.5-T Siemens Avanto (Erlangen, Germany), using cine resonance for function evaluation and myocardial delayed enhancement (MDE) technique for myocardial fibrosis detection, 10 min after intravenous bolus of 0.2 mmol/kg of gadolinium-based contrast... Mann Whitney was used for comparison of myocardial fibrosis between the group with mutation in exons < 45 and mutation in exons ≥45... Of the 40 pts with DNA mutation, 16 pts showed mutation below exon 45 and 25 pts in exons on or above 45... There was a significant correlation between the site of mutation in the dystrophin gene and myocardial fibrosis... Mutations in exon ≥ 45 appear to protect against cardiac involvement.

No MeSH data available.


Related in: MedlinePlus