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

Abstract

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.

Oedema‐fibrosis in Duchenne Muscular Dystrophy: Role of cardiovascular magnetic resonance imaging

“…Echocardiography represents the cornerstone technique in cardiology. However, it is the operator and acoustic window depending and cannot perform tissue characterization for subclinical disease detection . Specifically, in DMD, the comparison of CMR vs echocardiography documented that three‐quarter of echocardiography studies had suboptimal windows and 26% of measurements significantly over‐ or underestimated the left ventricular function compared to CMR .…”

“…However, it is the operator and acoustic window depending and cannot perform tissue characterization for subclinical disease detection. 37 Specifically, in DMD, the comparison of CMR vs echocardiography documented that three-quarter of echocardiography studies had suboptimal windows and 26% of measurements significantly overor underestimated the left ventricular function compared to CMR. 38,39 According to our opinion, although echocardiography remains a first line, cost-effective, widely available technique, CMR is absolutely necessary for subclinical disease detection, risk stratification and treatment assessment.…”

“…43 Fibrosis is seriously involved in the pathophysiology of cardiac involvement of DMD, presenting both a replacement and a diffuse pattern, as it was documented by various published studies. 37,42,44 A recent CMR assessment of patients with nonischaemic cardiomyopathy documented that LGE was a powerful and independent predictor of malignant arrhythmia prognosis. 45…”

Non-traumatic and non-drug-induced rhabdomyolysis

“…Dystrophinopathies are sex-linked disorders. The lack of dystrophin destabilizes the muscle membrane, leading to clinical features of delayed motor development, calf hypertrophy, joint contractures, and progressive muscle weakness leading to scoliosis, cardiomyopathy, respiratory insufficiency, severe physical disability and reduced life expectancy, with death occurring before the third or fourth decade of life [52,[54][55][56][57][58][59]. DMD affects 1/3,500-5,000 live-born males; it is the most common type of muscular dystrophy in childhood [57,58].…”

The Added Value of Cardiac Magnetic Resonance in Muscular Dystrophies

“…Randomized controlled trials have assessed ACEi in patients with DMD and showed slower progression of disease and lower mortality rate when treatment started early, while LVEF still normal [5,24,[38][39][40]. A prospective study using this time CMR assessment of LGE and LVEF in patients with DMD or BMD under steroids treatment showed preserved LVEF and lack of LGE when treatment was associated with perindopril [41]. Another study compared lisinopril versus losartan (an angiotensin receptor blocker -ARB) in patients with DMD and recent diagnosis of heart involvement.…”