A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.

ATP6V1B2 pathogenic variants are linked with variable phenotypes, such as dominant deafness-onychodystrophy syndrome (DDOD), autosomal dominant Zimmermann-Laband syndrome type 2 (ZLS2), and some cases of DOORS (deafness, onychodystrophy, osteodystrophy, intellectual disability [ID], and seizures). Epilepsy was first linked to ATP6V1B2, when the p.(Glu374Gln) missense variant was detected in a patient with ID and seizures, but without characteristic features of DDOD or ZLS2 syndromes. We herein report a novel pathogenic ATP6V1B2:p.Glu374Gly variant detected in an adult patient with ID and myoclonic-atonic seizures. The (re)occurrence of different variants affecting the same highly conserved hydrophilic glutamic acid on position 374 of the V-proton ATPase subunit B, indicates a potential novel pathogenic hotspot and a critical role for the specific residue in the development of epilepsy. ATP6V1B2 gene defects should be considered when analyzing patients with epilepsy, even in the absence of most cardinal features of DDOD, DOORS, or ZLS such as deafness, onychodystrophy, and osteodystrophy.

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

Duchenne muscular dystrophy (DMD) is an X-linked muscle disorder characterized by progressive, irreversible loss of cardiac and skeletal muscular function. Muscular enlargement in DMD is attributed to oedema, due to the increased cytoplasmic Na+ concentration. The aim of this review was to present the current experience and emphasize the role of cardiovascular magnetic resonance (CMR) in the diagnosis of this condition. DMD patients' survival depends on ventilatory assistance, as respiratory muscle dysfunction was the most common cause of death in the past. Currently, due to improved ventilatory assistance, cardiomyopathy has become the main cause of death, even though clinically overt heart failure may be absent. CMR is the technique of choice to assess the pathophysiologic phenomena taking place in DMD, such as myocardial oedema and subepicardial fibrosis. The classic index to assess oedema is the T2-weighted short-tau inversion recovery (T2w-STIR), as it suppresses the signal from flowing blood and resident fat and enhances sensitivity to tissue fluid. Furthermore, CMR is the most reliable technique to detect and quantify fibrosis in DMD. Recently, the new indices T2, T1 mapping (native and postcontrast) and the extracellular volume (ECV) allow a more accurate approach of myocardial oedema and fibrosis. To conclude, the assessment of cardiac oedema and subepicardial fibrosis in the inferolateral wall of the left heart ventricle are the most important early finding in DMD with preserved ventricular function, and CMR, using both the classic and the new indices, is the best technique to detect and monitor these lesions.

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

BACKGROUND: To evaluate cardiovascular function in boys with Duchenne (DMD) and Becker (BMD) muscular dystrophy, using cardiac magnetic resonance (CMR). METHODS: This 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. RESULTS: Group 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. CONCLUSION: Children 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.

Heart Failure Post-SARS-CoV-2 Infection in Children with Duchenne Muscular Dystrophy: The Additive Value of Cardiovascular Magnetic Resonance.

In this case series, we describe the diagnosis of post-COVID-19 myocarditis in asymptomatic patients with Duchenne Muscular Dystrophy (DMD) and a mild COVID-19 disease course. These patients were referred for CMR due to electrocardiographic and echocardiographic alterations, which did not exist before COVID-19 infection. CMR identified the presence of severe myocardial inflammation in all patients based on abnormally elevated myocardial T2 ratio, late gadolinium enhancement, native T1 mapping, T2 mapping, and extracellular volume fraction. This was paired with concurrent impairment of left ventricular function. Appropriate treatment was initiated in all cases. Two of the four patients developed episodes of ventricular tachycardia during the following 6 months, and a defibrillator was implanted. Despite the mild clinical presentation, this case series demonstrates the diagnostic strength of CMR in the diagnosis and evaluation of post-COVID-19 myocarditis and serves to increase awareness of this potential complication amongst treating physicians.

Cardiovascular Magnetic Resonance Demonstrates Myocardial Inflammation of Differing Etiologies and Acuities in Patients with Genetic and Inflammatory Myopathies.

INTRODUCTION: Myopathies are heterogeneous neuromuscular diseases of genetic and/or inflammatory etiology that affect both cardiac and skeletal muscle. We investigated the prevalence of cardiac inflammation in patients with myopathies, cardiovascular symptoms, and normal echocardiography using cardiovascular magnetic resonance (CMR). METHODS: We prospectively evaluated 51 patients with various genetic (n = 23) and inflammatory (n = 28) myopathies (median age, IQR: 12 (11-15) years, 22% girls; 61 (55-65) years, 46% women, respectively) and compared their CMR findings to corresponding age- and sex-matched controls (n = 21 and 20, respectively) and to each other. RESULTS: Patients with genetic myopathy had similar biventricular morphology and function to healthy controls but showed higher late gadolinium enhancement (LGE), native T1 mapping, extracellular volume fraction (ECV), and T2 mapping values. Collectively, 22 (95.7%) patients with genetic myopathy had a positive T1-criterion and 3 (13.0%) had a positive T2-criterion according to the updated Lake Louise criteria. Compared with healthy controls, patients with inflammatory myopathy showed preserved left ventricular (LV) function and reduced LV mass, while all CMR-derived tissue characterization indices were significantly higher (p < 0.001 for all). All patients had a positive T1-criterion, and 27 (96.4%) had a positive T2-criterion. A positive T2-criterion or T2-mapping > 50 ms could discriminate between patients with genetic and inflammatory myopathies with a sensitivity of 96.4% and a specificity of 91.3% (AUC = 0.9557). CONCLUSIONS: The vast majority of symptomatic patients with inflammatory myopathies and normal echocardiography show evidence of acute myocardial inflammation. In contrast, acute inflammation is rare in patients with genetic myopathies, who show evidence of chronic low-grade inflammation.

Pathophysiology of cognitive dysfunction and the role of combined brain/heart magnetic resonance imaging (Review).

Normal cognitive function depends on a continuous and optimally regulated blood supply, and any pathology that further reduces cerebral blood perfusion in addition to that caused by aging could damage or destroy vulnerable neurons of the brain. Furthermore, glucose serves a crucial role as the primary fuel source for the mammalian brain and any disturbance in its circulating concentrations could directly affect brain function. The term cognitive dysfunction (CD), known also as 'brain fog', refers to deficits in attention, verbal and non-verbal learning, short-term and working memory, visual and auditory processing, mathematic problem solving, processing speed, focusing on a specific topic, and motor functioning. CD is the end-point of various cardiovascular, neural, metabolic and immune function impairments. Although CD has a serious impact on patient survival and quality of life, usually it is clinically underestimated. CD is currently assessed using cognitive tests (questionnaires), which have important limitations in their diagnostic capacity, specifically in the preclinical forms of CD. Cognitive tests may not identify subclinical cases of CD but diagnose CD only when symptoms are clinically overt. Furthermore, these tests do not provide information regarding the underlying pathophysiologic background of CD. The aim of the present review is to summarize the existing literature on CD and emphasize the role of combined brain-heart magnetic resonance imaging (MRI) in its early diagnosis, before CD questionnaires are abnormal. Combined brain/heart MRI has the potential to identify patients with CD at an early stage, facilitating risk stratification and early intervention. Furthermore, in parallel with brain assessment, it provides valuable information regarding the effect of the underlying disease on the myocardium. Equipment availability, physician familiarity and cost/effectiveness should be considered before wide clinical application of combined brain/heart MRI is recommended.

Cardiovascular Magnetic Resonance Imaging Patterns in Rare Cardiovascular Diseases.

Rare cardiovascular diseases (RCDs) have low incidence but major clinical impact. RCDs' classification includes Class I-systemic circulation, Class II-pulmonary circulation, Class III-cardiomyopathies, Class IV-congenital cardiovascular diseases (CVD), Class V-cardiac tumors and CVD in malignancy, Class VI-cardiac arrhythmogenic disorders, Class VII-CVD in pregnancy, Class VIII-unclassified rare CVD. Cardiovascular Magnetic Resonance (CMR) is useful in the diagnosis/management of RCDs, as it performs angiography, function, perfusion, and tissue characterization in the same examination. Edema expressed as a high signal in STIRT2 or increased T2 mapping is common in acute/active inflammatory states. Diffuse subendocardial fibrosis, expressed as diffuse late gadolinium enhancement (LGE), is characteristic of microvascular disease as in systemic sclerosis, small vessel vasculitis, cardiac amyloidosis, and metabolic disorders. Replacement fibrosis, expressed as LGE, in the inferolateral wall of the left ventricle (LV) is typical of neuromuscular disorders. Patchy LGE with concurrent edema is typical of myocarditis, irrespective of the cause. Cardiac hypertrophy is characteristic in hypertrophic cardiomyopathy (HCM), cardiac amyloidosis (CA) and Anderson-Fabry Disease (AFD), but LGE is located in the IVS, subendocardium and lateral wall in HCM, CA and AFD, respectively. Native T1 mapping is increased in HCM and CA and reduced in AFD. Magnetic resonance angiography provides information on aortopathies, such as Marfan, Turner syndrome and Takayasu vasculitis. LGE in the right ventricle is the typical finding of ARVC, but it may involve LV, leading to the diagnosis of arrhythmogenic cardiomyopathy. Tissue changes in RCDs may be detected only through parametric imaging indices.

The Emerging Role of Combined Brain/Heart Magnetic Resonance Imaging for the Evaluation of Brain/Heart Interaction in Heart Failure.

Heart failure (HF) patients frequently develop brain deficits that lead to cognitive dysfunction (CD), which may ultimately also affect survival. There is an important interaction between brain and heart that becomes crucial for survival in patients with HF. Our aim was to review the brain/heart interactions in HF and discuss the emerging role of combined brain/heart magnetic resonance imaging (MRI) evaluation. A scoping review of published literature was conducted in the PubMed EMBASE (OVID), Web of Science, Scopus and PsycInfo databases. Keywords for searches included heart failure, brain lesion, brain, cognitive, cognitive dysfunction, magnetic resonance imaging cardiovascular magnetic resonance imaging electroencephalogram, positron emission tomography and echocardiography. CD testing, the most commonly used diagnostic approach, can identify neither subclinical cases nor the pathophysiologic background of CD. A combined brain/heart MRI has the capability of diagnosing brain/heart lesions at an early stage and potentially facilitates treatment. Additionally, valuable information about edema, fibrosis and cardiac remodeling, provided with the use of cardiovascular magnetic resonance, can improve HF risk stratification and treatment modification. However, availability, familiarity with this modality and cost should be taken under consideration before final conclusions can be drawn. Abnormal CD testing in HF patients is a strong motivating factor for applying a combined brain/heart MRI to identify early brain/heart lesions and modify risk stratification accordingly.

Myocardial inflammation in Duchenne Muscular Dystrophy as a precipitating factor for heart failure: a prospective study.

BACKGROUND: In patients with Duchenne Muscular Dystrophy (DMD), the absent or diminished dystrophin leads to progressive skeletal muscle and heart failure. We evaluated the role of myocardial inflammation as a precipitating factor in the development of heart failure in DMD. METHODS: 20 DMD patients (aged 15-18 yrs) and 20 age-matched healthy volunteers were studied and followed-up for 2 years. Evaluation of myocarditis with cardiovascular magnetic resonance imaging (CMR) was performed using STIR T2-weighted (T2W), T1-weighted (T1W) before and after contrast media and late enhanced images (LGE). Left ventricular volumes and ejection fraction were also calculated. Myocardial biopsy was performed in patients with positive CMR and immunohistologic and polymerase chain reaction (PCR) analysis was employed. RESULTS: In DMD patients, left ventricular end-diastolic volume (LVEDV) was not different compared to controls. Left ventricular end-systolic volume (LVESV) was higher (45.1 +/- 6.6 vs. 37.3 +/- 3.8 ml, p < 0.001) and left ventricular ejection fraction (LVEF) was lower (53.9 +/- 2.1 vs. 63 +/- 2.4%, p < 0.001). T2 heart/skeletal muscle ratio and early T1 ratio values in DMD patients presented no difference compared to controls. LGE areas were identified in six DMD patients. In four of them with CMR evidence of myocarditis, myocardial biopsy was performed. Active myocarditis was identified in one and healing myocarditis in three using immunohistology. All six patients with CMR evidence of myocarditis had a rapid deterioration of left ventricular function during the next year. CONCLUSIONS: DMD patients with myocardial inflammation documented by CMR had a rigorous progression to heart failure.

Friedreich's Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance.

BackgroundFriedreich's ataxia (FA) is an autosomal-recessive neurodegenerative disease characterised by neurologic, cardiac and endocrine abnormalities. Currently, Friedreich cardiomyopathy (FA-CM) staging is based on early ECG findings, high sensitivity troponin (hsTNT) ≥14 ng/ml and echocardiographic left ventricular (LV) morphologic and functional evaluation. However, further parameters, accessible only by cardiovascular magnetic resonance (CMR), such as myocardial oedema, perfusion defects, replacement and/or diffuse myocardial fibrosis, may have a place in the staging of FA-CA. Our aim was to elucidate the additive value of CMR in FA-CM.MethodsThree FA cases were assessed using ECG, 24 h Holter recording, hsTNT, routine ECHO including wall dimension, valvular and ventricular function evaluation and CMR using 1.5T Ingenia system. Ventricular volumes-function, wall dimensions and fibrosis imaging using late gadolinium enhancement (LGE) was performed.ResultsAll FA patients had non-specific ECG changes, almost normal 24 h Holter recording, mild hypertrophy with normal function assessed by echocardiography and increased hsTNT. However, the CMR evaluation revealed the presence of LGE >5% of LV mass, indicative of severe fibrosis. Therefore, the FA patients were re-categorized as having severe FA-CA, although their LVEF remained normal.ConclusionThe combination of classical diagnostic indices and CMR may reveal early asymptomatic FA-CM and motivate the early initiation of cardiac treatment. Furthermore, these indices can be also used to validate specific treatment targets in FA, potentially useful in the prevention of FA-CM.

Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.

BACKGROUND: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these conditions and approved therapeutic approaches have recently become available to patients. OBJECTIVE: Analysis of genetic and clinical data from SMA patients referred to the single public-sector provider of genetic services for the disease throughout Greece followed by a retrospective assessment in the context of epidemiology and genotype-phenotype associations. METHODS: Molecular genetic analysis and retrospective evaluation of findings for 361 patients tested positive for SMA- and 862 apparently healthy subjects from the general population. Spearman rank test and generalized linear models were applied to evaluate secondary modifying factors with respect to their impact on clinical severity and age of onset. RESULTS: Causative variations- including 5 novel variants- were detected indicating a minimal incidence of about 1/12,000, and a prevalence of at least 1.5/100,000. For prognosis a minimal model pertaining disease onset before 18 months was proposed to include copy numbers of NAIP (OR = 9.9;95% CI, 4.7 to 21) and SMN2 (OR = 6.2;95% CI, 2.5-15.2) genes as well as gender (OR = 2.2;95% CI, 1.04 to 4.6). CONCLUSIONS: This long-term survey shares valuable information on the current status and practices for SMA diagnosis on a population basis and provides an important reference point for the future assessment of strategic advances towards disease prevention and health care planning.

Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies.

Dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XLCM), and facioscapulohumeral muscular dystrophy (FSHD). DMD/BMD are X-linked recessive disorders, related to the synthesis of dystrophin. Most of DMD after the third decade of their age develop cardiomyopathy that remains silent, due to relative physical inactivity. Cardiac disease in female carriers presents with hypertrophy, arrhythmias or dilated cardiomyopathy, clinically overt by increasing age.In ECG, DMD presents increased R/S ratio in the right precordial leads, deep Q waves in the lateral leads, conduction abnormalities, and arrhythmias. Echocardiography, although widely available and inexpensive, is highly depended on the acoustic window and operator's experience. Tissue Doppler can be used to identify early changes of cardiomyopathy and detect progressive cardiac damage. CMR, a noninvasive, nonradiating technique, by evaluation of cardiac volumes, mass, ejection fraction, inflammation, and fibrosis, is ideal for early diagnosis. Subepicardial fibrosis in the inferolateral wall is the typical CMR lesion in DMD/BMD.Early initiation of angiotensin converting enzyme inhibitors (ACEI) treatment, such as perindopril, was associated with lower mortality in DMD with normal LV ejection fraction at study entry. Other studies documented that a beta-blocker (BB), in addition to ACEI, improves LV systolic function in MD. These encouraging results recommend initiation of ACEI and/or BB early after diagnosis of the muscular dystrophy, especially in DMD.

Upper Limb Function, Kinematic Analysis, and Dystonia Assessment in Children With Spastic Diplegic Cerebral Palsy and Periventricular Leukomalacia.

Assessment of upper limb function, kinematic analysis, and dystonia in patients with spastic diplegia cerebral palsy and periventricular leukomalacia. Seven children with spastic diplegia cerebral palsy and 8 controls underwent upper limb kinematics. Movement duration, average and maximum linear velocity, index of curvature, index of dystonia, and target accuracy and stability were analyzed. In the patients with spastic diplegia, Gross Motor Function and Manual Ability Classification Systems were determined, and spasticity and dystonia were rated using the Modified Ashworth and the Burke-Fahn-Marsden Dystonia scales respectively. Children with spastic diplegia demonstrated a tendency toward higher index of dystonia reflecting overflow, higher index of curvature, lower velocities, and poor target accuracy and stability. All patients showed clinical evidence of dystonia in the upper limbs. Dystonia scores correlated with the Manual Ability Classification System (r = 0.86, P = .01) and with the index of dystonia (r = 0.82, P = .02). Children with spastic diplegia cerebral palsy present dystonia in the upper limbs. This is functionally relevant and can be measured with kinematic analysis.

Cardiac and sternocleidomastoid muscle involvement in Duchenne muscular dystrophy: an MRI study.

OBJECTIVE: To examine the extent of cardiac muscle and sternocleidomastoid muscle (SCM) involvement detected by MRI measurement of T2 relaxation time in patients with Duchenne muscular dystrophy (DMD) and no cardiorespiratory symptoms. DESIGN: Prospective controlled study. SETTING: Teaching referral hospital and university hospital. SUBJECTS: Seventeen patients with DMD (age range, 7 to 25 years) and 17 age-matched control subjects. All patients were free of cardiac or respiratory complaints and had normal ECG, echocardiograph, and Holter monitor examination findings. METHODS: We assessed respiratory function by means of standard pulmonary function testing. MRI measurements included the T2 relaxation time of the myocardium and the SCM in patients and control subjects. RESULTS: The FVC and FEV1 values were lower in patients with DMD than in age-matched control subjects, whereas the FEV1/FVC ratio was normal in all subjects. Patients with DMD had lower T2 relaxation time of the heart (37.8 +/- 6.1 ms vs 58.1 +/- 7.1 ms, p < 0.001) and lower T2 relaxation time of the right SCM (24.5 +/- 2.6 ms vs 42.2 +/- 1.3 ms, p < 0.001) and left SCM (23.2 +/- 3.2 ms vs 42.2 +/- 1.6 ms, p < 0.001), compared to control subjects (+/- SD). In children (< 12 years of age), the T2 of the SCM was lower than that of the control subjects, but T2 of the heart did not differ between the two groups. In the patient group, T2 relaxation time of the heart decreased with age (r = - 0.80, p < 0.001). In patients with FVC < 80% of predicted, the T2 values of the heart were lower than the T2 values of patients with FVC > or = 80% of predicted (35.6 +/- 5.8 ms vs 41.8 +/- 4.6 ms, p < 0.05). CONCLUSIONS: MRI measurements of the T2 relaxation time in the myocardium and SCM of patients with DMD and no cardiorespiratory symptoms are abnormal, indicating altered tissue composition. These measurements may prove a clinically useful test for monitoring cardiac and respiratory muscle involvement in these patients.

Cardiac involvement in Duchenne and Becker muscular dystrophy.

Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscular diseases responsible for over 80% of all muscular dystrophies. Cardiac disease is a common manifestation, not necessarily related to the degree of skeletal myopathy; it may be the predominant manifestation with or without any other evidence of muscular disease. Death is usually due to ventricular dysfunction, heart block or malignant arrhythmias. Not only DMD/BMD patients, but also female carriers may present cardiac involvement. Clinically overt heart failure in dystrophinopathies may be delayed or absent, due to relative physical inactivity. The commonest electrocardiographic findings include conduction defects, arrhythmias (supraventricular or ventricular), hypertrophy and evidence of myocardial necrosis. Echocardiography can assess a marked variability of left ventricular dysfunction, independently of age of onset or mutation groups. Cardiovascular magnetic resonance (CMR) has documented a pattern of epicardial fibrosis in both dystrophinopathies' patients and carriers that can be observed even if overt muscular disease is absent. Recently, new CMR techniques, such as postcontrast myocardial T1 mapping, have been used in Duchenne muscular dystrophy to detect diffuse myocardial fibrosis. A combined approach using clinical assessment and CMR evaluation may motivate early cardioprotective treatment in both patients and asymptomatic carriers and delay the development of serious cardiac complications.

Cardiovascular magnetic resonance imaging evaluation of two families with Becker muscular dystrophy.

In this study we evaluated two families with Becker muscular dystrophy and although the patients were completely asymptomatic and with normal ECG and echocardiogram, their left ventricular function was abnormal and the presence of subepicardial scar tissue was identified in the majority of them. The latter was also documented in one of the mothers, who had normal systolic function and was free of symptoms. Cardiac evaluation with cardiovascular magnetic resonance is sensitive enough to detect abnormal findings in BMD patients, missed by conventional echocardiography. Due to its ability to perform tissue characterization non-invasively, cardiovascular magnetic resonance can detect silent myocardial lesions in patients with Becker muscular dystrophy.

Effect of deflazacort on cardiac and sternocleidomastoid muscles in Duchenne muscular dystrophy: a magnetic resonance imaging study.

OBJECTIVE: To evaluate the involvement of cardiac and sternocleidomastoid muscles by magnetic resonance imaging (MRI) measurement of T2 relaxation time and the left ventricular systolic function in patients with Duchenne muscular dystrophy (DMD) on treatment with deflazacort and compare them with DMD patients without treatment. SUBJECTS: Seventeen patients with DMD (aged 17-22 years) on treatment with deflazacort for at least 7 years and 17 boys with DMD of younger age (12-15 years) without steroid treatment. All patients were free of cardiac or respiratory symptoms and had normal ECG and Holter monitor examination. METHODS: T2 relaxation time of the myocardium (H), left (SCM-L) and right sternocleidomastoid (SCM-R) muscles and left ventricular systolic function were evaluated by magnetic resonance imaging (MRI) in two groups of DMD patients. Myocardial and sternocleidomastoid muscles T2 relaxation time was calculated using 16 TEs (10-85 msec) and TR at least 2000 ms and T2 maps were created. RESULTS: DMD on deflazacort had higher T2 relaxation time values of the heart and of both sternocleidomastoid muscles (T2H median (range): 47 (41-48) vs. 33 (31-37)ms, p<0.001, T2 SCM-L median (range): 35 (30-37) vs. 23 (20-26)ms, p<0.001, T2 SCM-R median (range): 35 (32-37) vs. 23 (20-27)ms, p<0.001) and left ventricular systolic function (LVEDV median (range): 95 (75-120) vs. 90 (80-105)ml, p=0.03, LVESV median (range): 45 (38-55) vs. 47 (41-51)ml, p=0.81(NS), LVEF median (range): 53% (51-57) vs. 48% (42-51), p<0.001) compared to DMD without treatment. CONCLUSIONS: DMD patients on deflazacort are characterized by better preservation of the T2 relaxation time of myocardium and sternocleidomastoid muscles and better LV systolic function. The duration of this beneficial effect needs to be studied prospectively.