Detection of long-term progression of myocardial fibrosis in Duchenne muscular dystrophy in an affected family: a cardiovascular magnetic resonance study.
ABSTRACT Detection of myocardial fibrosis and left ventricular dysfunction in Duchenne muscular dystrophy (DMD) is the corner stone for further therapeutic studies. Little is known about the ability of cardiac magnetic resonance imaging (CMR) to evaluate progression of myocardial fibrosis. Aim of our study was to provide CMR data in a previously genotyped DMD family and to evaluate whether progression of myocardial fibrosis could be visualized.
DMD genotypes were available in 14 family members. CMR was performed in 4/5 carrier females, in 2/2 affected males and in one healthy family member with normal genotype. Functional images and late gadolinium enhanced (LGE) images in contiguous short-axis orientation were acquired at baseline and follow-up of 1231 days CMR examination could be repeated in three carrier females, in one affected male and in the healthy subject previously scanned. Mean decrease of left ventricular ejection fraction during the follow-up period was 10.5±11.0%, mean progression of LGE volume 11.7±9.5%.
Myocardial fibrosis seems to occur prior to global left ventricular dysfunction in DMD diseased males and carrier females. CMR could be used to evaluate progression of myocardial fibrosis and left ventricular function and may thus serve as an important diagnostic tool in the evaluation of therapeutical options in DMD.
- SourceAvailable from: Zilda Maria Alves Meira[show abstract] [hide abstract]
ABSTRACT: This study sought to analyze whether cardiovascular magnetic resonance (CMR) can detect and quantify myocardial damage in the early stages of cardiomyopathy in muscular dystrophies (MD). Muscular dystrophy is a genetic disease that involves skeletal and cardiac tissues of humans. Cardiomyopathy is common, and death secondary to cardiac or respiratory diseases occurs early in life. Cardiovascular magnetic resonance is a reliable method for assessing global and regional cardiac function, allowing also for the detection of myocardial fibrosis (MF). Ten patients with Duchenne or Becker dystrophies were studied by CMR. Physical examination, Chagas disease serological tests, electrocardiogram, chest radiograph, total creatine kinase, and Doppler echocardiogram were also obtained in all patients. Patients with MF had a lower ejection fraction than those without. Myocardial fibrosis (midwall and/or subepicardial) was observed in 7 of the 10 patients, and the lateral wall was the most commonly involved segment. There was moderate correlation between segmental MF and dysfunction. Cardiovascular magnetic resonance can identify MF and may be useful for detecting the early stages of cardiomyopathy in MD. Future work will be needed to evaluate whether CMR can influence cardiomyopathy and outcomes.Journal of the American College of Cardiology 06/2007; 49(18):1874-9. · 14.09 Impact Factor
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ABSTRACT: A 42 year-old female carrier of Duchenne muscular dystrophy (DMD) was referred with suspected subacute myocarditis and non-sustained ventricular tachycardia. Echochardiography and cardiac catheterization revealed severely reduced left ventricular function (LVF). Coronary artery disease was excluded. Cardiac magnetic resonance imaging showed transmural, intramural and subepicardial late gadolinium enhancement. Myocardial biopsy excluded viral infection and showed severe myopathic changes with abnormal expression of dystrophin and utrophin. Moleculargenetic analysis of the DMD gene revealed frameshift duplication of exon 2. The patient received conventional heart failure therapy, implantable cardioverter/defibrillator-implantation and prednisolone to attenuate cardiac degradation. 6 months later she had improved clinically though LVF was still severely reduced.Internal Medicine 02/2000; 39(1):2-3. · 0.97 Impact Factor
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ABSTRACT: Cardiovascular magnetic resonance (MR) imaging can provide three-dimensional analysis of global and regional cardiac function with great accuracy and reproducibility. Quantitative assessment of regional function with cardiac MR imaging previously was limited by long acquisition times and time-consuming analysis. The use of steady-state free precession cine MR imaging substantially improves assessment of myocardial wall motion. Advances in gradient technology and reconstruction techniques have increased MR image acquisition speed and made real-time cine MR imaging possible. Myocardial deformation may be measured with cine MR tagging, and interpretation of the resultant tagged MR images by means of harmonic phase analysis enables prompt and precise strain measurements. Velocity-encoded and stimulated-echo techniques such as phase-contrast MR imaging and displacement encoding with stimulated echoes, or DENSE, provide high-resolution strain maps. Clinical validation of these strain imaging techniques will depend on future assessments of their effect on the management of cardiac disease.Radiographics 11/2003; 23 Spec No:S127-40. · 2.79 Impact Factor