CMR Detects Subclinical Cardiomyopathy in Mother-Carriers of Duchenne and Becker Muscular Dystrophy

Mavrogeni, Sophie; Bratis, Konstantinos; Papavasiliou, Antigoni; Skouteli, Eleni Anna T.; Karanasios, Evangelos; Georgakopoulos, Dimitrios G.; Kolovou, Genovefa; Papadopoulos, George

doi:10.1016/j.jcmg.2012.09.017

Cited by 25 publications

(29 citation statements)

References 4 publications

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“…The pathology of cardiomyopathy in dystrophinopathies includes the presence of subepicardial fibrosis in the inferolateral wall (136,37), similar to that observed in viral myocarditis. The application of CMR in MD, in addition to the standard monitoring by echocardiography and ECG, is of great value because early initiation of heart failure treatment may delay the progression of LV dysfunction and/or even reverse cardiac remodelling in X-linked dystrophinopathies (137); and because myocardial fibrosis, assessed by LGE, may be observed, even if echocardiographic evaluation is still normal (136,138) and CMR may serve as an early sensitive index to motivate the start of cardioprotective treatment.…”

Section: Why Cmr In Md?mentioning

confidence: 79%

“…Exercise may unmask LV systolic dysfunction in female carriers (36). In a study conducted by our group, CMR revealed myocardial fibrosis in the majority of DMD and BMD mother-carriers, although the clinical presentation and the usual noninvasive assessment were mildly abnormal (37). Therefore, detailed cardiac evaluation, at least once after the teenage years, should be recommended for all female carriers to enable an early start of cardiac treatment (38).…”

Section: Cardiac Involvement In Female Carriers Of Dystrophinopathiesmentioning

confidence: 99%

“…Not only the presence, but also the LGE amount plays an important role in patients' prognosis, because even a small area of LGE (<2% of LV mass) was associated with a >7-fold increase in risk for a major adverse cardiac event in patients with coronary artery disease (150). Many studies have documented the presence of myocardial scar in both MD and carriers, emphasizing its role as an early strong diagnostic sign of heart involvement and as a motivating factor for early start of cardiovascular treatment (37,136). A recent CMR evaluation of patients with nonischemic cardiomyopathy documented that LGE was a powerful and independent predictor of malignant arrhythmic prognosis, while its amount and distribution did not provide additional prognostic value; therefore, it may contribute to identify candidates for ICD therapy not fulfilling the current criteria based on LV ejection fraction (151).…”

Section: Why Cmr In Md?mentioning

confidence: 99%

See 2 more Smart Citations

Muscular dystrophies and the heart: The emerging role of cardiovascular magnetic resonance imaging

Mavrogeni¹,

Markousis‐Mavrogenis²,

Papavasiliou³

et al. 2015

Curr Res Cardiol

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Section: Why Cmr In Md?mentioning

confidence: 79%

Section: Cardiac Involvement In Female Carriers Of Dystrophinopathiesmentioning

confidence: 99%

Section: Why Cmr In Md?mentioning

confidence: 99%

See 1 more Smart Citation

Muscular dystrophies and the heart: The emerging role of cardiovascular magnetic resonance imaging

Mavrogeni¹,

Markousis‐Mavrogenis²,

Papavasiliou³

et al. 2015

Curr Res Cardiol

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“…After demise of cardiomyocytes, fibroblasts form a scar tissue leading in multifocal myocardial fibrosis (MF) [7, 8], starting from the epi- and progresses into the endocardium [9]. MF leads to ventricular wall thinning, loss of contractility and to dilated cardiomyopathy (DCM) [8], which has been described in both DMD patients [8] and carriers [10]. …”

Section: Introductionmentioning

confidence: 99%

Cardiac profile of asymptomatic children with Becker and Duchenne muscular dystrophy under treatment with steroids and with/without perindopril

Mavrogeni

Giannakopoulou

Papavasiliou

et al. 2017

BMC Cardiovasc Disord

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BackgroundTo evaluate cardiovascular function in boys with Duchenne (DMD) and Becker (BMD) muscular dystrophy, using cardiac magnetic resonance (CMR).MethodsThis is a single point cross sectional study of twenty-four boys with genetically ascertained DMD, and 10 with BMD, aged 10.5 ± 1.5 years (range 9–13), were prospectively evaluated by a 1.5 T system and compared with those of age-sex matched controls. The DMD patients were divided in 2 groups. Group A (N = 12) were under treatment with both deflazacort and perindopril, while Group B (n = 12) were under treatment with deflazacort, only. BMD patients did not take any medication. Biventricular function was assessed using a standard SSFP sequence. Late gadolinium enhancement (LGE) was assessed from T1 images taken 15 min after injection of 0.2 mg/Kg gadolinium DTPA using a 3D–T1-TFE sequence.ResultsGroup A and BMDs were asymptomatic with normal ECG, 24 h ECG recording and echocardiogram. Group B were asymptomatic but 6/12 had abnormal ECG and mildly impaired LVEF. Their 24 h ECG recording revealed supraventricular and ventricular extrasystoles (all at 12–13 yrs). LV indices in Group A and BMD did not differ from those of controls. However, LV indices in Group B were significantly impaired compared with controls, Group A and BMDs (p < 0.001). An epicardial LGE area = 3 ± 0.5% of LV mass was identified in the posterolateral wall of LV only in 6/12 patients of Group B, but in not in any BMD or Group A.ConclusionChildren with either BMD or DMD under treatment with both deflazacort and perindopril present preserved LV function and lack of LGE. However, further large scale multicenter studies are warranted to confirm these data, including further CMR mapping approaches.

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“…Female relatives require genetic testing and genetic counseling to avoid the birth of affected children without enough knowledge of the disease to make informed decisions [2]. In addition, manifestations of dystrophinopathies are present in a range of 8%–40% of heterozygous females, and this affects their life quality [3,4]. About 8% of them manifest clinically relevant features of the disease such as abnormal gait, calf hypertrophy, cardiomyopathy, cramps, exercise intolerance, and intellectual and learning disabilities, among other signs and symptoms [5].…”

Section: Introductionmentioning

confidence: 99%

Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy

Anaya-Segura¹,

Rangel-Villalobos

Martínez-Cortés

et al. 2016

IJMS

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Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder in which the detection of female carriers is of the utmost importance for genetic counseling. Haplotyping with polymorphic markers and quantitation of creatine kinase levels (CK) allow tracking of the at-risk haplotype and evidence muscle damage, respectively. Such approaches are useful for carrier detection in cases of unknown mutations. The lack of informative markers and the inaccuracy of CK affect carrier detection. Therefore, herein we designed novel mini-STR (Short Tandem Repeats) assays to amplify 10 loci within the DMD gene and estimated allele frequencies and the polymorphism information content among other parameters in 337 unrelated individuals from three Mexican populations. In addition, we tested the utility of the assays for carrier detection in three families. Moreover, given that serum levels of miR-206 discern between DMD patients and controls with a high area under the curve (AUC), the potential applicability for carrier detection was assessed. The serum levels of miR-206 of non-carriers (n = 24) and carriers (n = 23) were compared by relative quantitation using real-time PCR (p < 0.05), which resulted in an AUC = 0.80 in the Receiver Operating Characteristic curve analysis. In conclusion, miR-206 has potential as a “liquid biopsy” for carrier detection and genetic counseling in DMD.

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CMR Detects Subclinical Cardiomyopathy in Mother-Carriers of Duchenne and Becker Muscular Dystrophy

Cited by 25 publications

References 4 publications

Muscular dystrophies and the heart: The emerging role of cardiovascular magnetic resonance imaging

Muscular dystrophies and the heart: The emerging role of cardiovascular magnetic resonance imaging

Cardiac profile of asymptomatic children with Becker and Duchenne muscular dystrophy under treatment with steroids and with/without perindopril

Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy

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