scholarly journals Is It Possible for Children in Duchenne Muscular Dystrophy to Preserve Cardiac Function with Medical Assistance?

Children ◽  
2020 ◽  
Vol 7 (11) ◽  
pp. 249
Author(s):  
Han Geul Kim ◽  
Lucy Youngmin Eun ◽  
Han Ki Park
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Ejection Fraction ◽  
Linear Mixed Model ◽  
Left Ventricular ◽  
Internal Diameter ◽  
Septal Thickness ◽  
Group 2 ◽  
Cardiac Medication ◽  
Group 1

In patients with Duchenne muscular dystrophy (DMD), death secondary to cardiac or respiratory failure typically occurs in the second or third decade without treatment. Although cardiac dysfunction is treated with standard heart-failure strategies, it remains insufficient in DMD children. The purpose of this study was to evaluate the efficiency of cardiac medication and noninvasive ventilator support in DMD cardiomyopathy children with analyzing echocardiographic data. Forty-eight DMD children patients were included and divided into 2 groups by left ventricular (LV) ejection fraction (EF) at the time of initial treatment. Group 1: LV EF ≥ 45% and Group 2: LV EF < 45%. p-values were calculated using a Linear mixed model to estimate the association between cardiac medications and echocardiographic measurements. Before and after cardiac medications, the change values were significantly different in interventricular septal thickness at end diastole (IVSd), interventricular septal thickness at end systole (IVSs), left ventricular internal diameter end systole (LVIDs), left ventricular posterior wall thickness end diastole (LVPWd), ejection fraction (EF), fractional shortening (FS), deceleration time (DT), DT slope, Lat A’ and Lat E/E’ (p < 0.05). Group 2 patients revealed to take more kinds of cardiac medications than Group 1 (p < 0.05) including ACEIs, beta-blocker, and inotropics, then LV EF was better preserved in Group 2 than Group 1. It is certainly helpful to take individualized medical combination therapy including inotropic agents for cardiomyopathy in DMD children patients with EF < 45%.

Abstract 18141: Is There Systolic Myocardial Mechanical Dysfunction in Patients With Different Degrees of Diastolic Dysfunction and Normal Ejection Fraction?

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Sergio Barros-Gomes ◽  
Patricia A Pellikka ◽  
Angela Dispenzieri ◽  
Hector R Villarraga
Keyword(s):  
Ejection Fraction ◽  
Diastolic Dysfunction ◽  
Systolic Dysfunction ◽  
Left Ventricular ◽  
Al Amyloidosis ◽  
Normal Ejection Fraction ◽  
Group 4 ◽  
Group 3 ◽  
Group 2 ◽  
Group 1

Introduction: Diastolic dysfunction has been characterized in relation to the relaxation and compliance properties of the left ventricle; limited information exists regarding its relationship to systolic function as assessed by deformation imaging. Objectives: To determine if there is left ventricular systolic dysfunction detected by global longitudinal strain (GLS) measured by two dimensional speckle tracking echocardiography in patients with immunoglobulin light chain (AL) amyloidosis with different degrees of diastolic dysfunction and normal ejection fraction (EF). Methods: Consecutive biopsy-proven AL patients with preserved EF (≥ 55%) who had a comprehensive echocardiogram performed and strain analysis were included. Cohort was divided into 5 groups according to the different grades of diastolic dysfunction: Group 0: normal filling pressures; Group 1: abnormal relaxation; Group 2: pseudo-normal pattern; Group 3: reversible restrictive; Group 4: fixed restrictive. Images were acquired and performed on a Vivid 9 from the 3 apical views, and analyzed on vendor-specific software (Echo-PAC, GE). GLS was averaged from the 16 segments, and their means compared by ANOVA and each pair with Student’s t test. Results: A total of 858 patients were included, mean age was 63.7 years ± 10.1, and 61.5% were male. From those, 205 (24%) were in group 0; 299 (35%) in group 1; 255 (30%) in group 2; 65 (7%) in group 3; and 34 in group 4 (4%). GLS means measurements were -18.95 ± 2.4, -16.86 ± 3.4, -15.60 ± 3.9, -12.31 ± 3.0, and -10.48 ± 3.3, respectively (P<0.0001). All individual GLS values were significantly different statistically when compared between each group (P<0.01 for all pairs; figure). Conclusions: Longitudinal systolic mechanical function is progressively impaired in AL amyloid patients as diastolic dysfunction progresses, despite normal EF. This systolic dysfunction provides insights into the intrinsic relationship between the components of the cardiac cycle.

Left ventricular dysfunction in Duchenne muscular dystrophy

2020 ◽  
Vol 30 (2) ◽  
pp. 171-176
Author(s):  
Katherine A. James ◽  
Jane Gralla ◽  
Leslie A. Ridall ◽  
ThuyQuynh N. Do ◽  
Angela S. Czaja ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Ejection Fraction ◽  
Left Ventricular Dysfunction ◽  
Positive Pressure Ventilation ◽  
Ventricular Dysfunction ◽  
Left Ventricular ◽  
Positive Pressure ◽  
Left Ventricle Function ◽  
Non Invasive

AbstractBackground:Duchenne muscular dystrophy is associated with progressive cardiorespiratory failure, including left ventricular dysfunction.Methods and Results:Males with probable or definite diagnosis of Duchenne muscular dystrophy, diagnosed between 1 January, 1982 and 31 December, 2011, were identified from the Muscular Dystrophy Surveillance Tracking and Research Network database. Two non-mutually exclusive groups were created: patients with ≥2 echocardiograms and non-invasive positive pressure ventilation-compliant patients with ≥1 recorded ejection fraction. Quantitative left ventricular dysfunction was defined as an ejection fraction <55%. Qualitative dysfunction was defined as mild, moderate, or severe. Progression of quantitative left ventricular dysfunction was modelled as a continuous time-varying outcome. Change in qualitative left ventricle function was assessed by the percentage of patients within each category at each age. Forty-one percent (n = 403) had ≥2 ejection fractions containing 998 qualitative assessments with a mean age at first echo of 10.8 ± 4.6 years, with an average first ejection fraction of 63.1 ± 12.6%. Mean age at first echo with an ejection fraction <55 was 15.2 ± 3.9 years. Thirty-five percent (140/403) were non-invasive positive pressure ventilation-compliant and had ejection fraction information. The estimated rate of decline in ejection fraction from first ejection fraction was 1.6% per year and initiation of non-invasive positive pressure ventilation did not change this rate.Conclusions:In our cohort, we observed that left ventricle function in patients with Duchenne muscular dystrophy declined over time, independent of non-invasive positive pressure ventilation use. Future studies are needed to examine the impact of respiratory support on cardiac function.

1409Use of phenomapping to determine response of treatment by sacubitril/valsartan in patients with heart failure with reduced ejection fraction

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
M Godet ◽  
O Raitiere ◽  
H Chopra ◽  
P Guignant ◽  
C Fauvel ◽  
...  
Keyword(s):  
Heart Failure ◽  
Pulmonary Hypertension ◽  
Ejection Fraction ◽  
Left Ventricular ◽  
Heat Map ◽  
Reduced Ejection Fraction ◽  
Patients With Heart Failure ◽  
Group 3 ◽  
Group 2 ◽  
Group 1

Abstract Background Treatment by sacubitril/valsartan decreases mortality, improves KCCQ score and ejection fraction in patients with heart failure with reduced ejection fraction (HF REF), but there is currently no data to predict response to treatment. Purpose The purpose of our work was to assess whether unbiased clustering analysis, using dense phenotypic data, could identify phenotypically distinct HF-REF subtypes with good or no response after 6 months of sacubitril/valsartan administration. Methods A total of 78 patients in NYHA functional class 2–3 and treated by ACE inhibitor or AAR2, were prospectively assigned to equimolar sacubitril/valsartan replacement. We collected demographic, clinical, biological and imaging continuous variables. Phenotypic domains were imputed with 5 eigenvectors for missing value, then filtered if the Pearson correlation coefficient was >0.6 and standardized to mean±SD of 0±1. Thereafter, we used agglomerative hierarchical clustering for grouping phenotypic variables and patients, then generate a heat map (figure 1). Subsequently, participants were categorized using Penalized Model-Based Clustering. P<0,05 was considered significant. Results Mean age was 60.4±13.4 yo and 79.0% patients were males. Mean ejection fraction was 29.3±7.0%. Overall, 16 phenotypic domains were isolated (figure 1) and 3 phenogroups were identified (Table 1). Phenogroup 1 was remarkable by isolated left ventricular involvement (LVTDD 64.3±5.9mm vs 73.9±8.7 in group 2 and 63.8±5.7 in group3, p<0.001) with moderate diastolic dysfunction (DD), no mitral regurgitation (MR) and no pulmonary hypertension (PH). Phenogroups 2 and 3 corresponded to patients with severe PH (TRMV: 2.93±0.47m/s in group 2 and 3.15±0.61m/s in groupe 3 vs 2.16±0.32m/s in group 1), related to severe DD (phenogroup 2) or MR (phenogroup 3). In both phenogroups, the left atrium was significantly enlarged and the right ventricle was remodeled, compared with phenogroup 1. Despite more severe remodeling and more compromised hemodynamic in phenogroups 2 and 3, the echocardiographic response to sacubitril/valsartan was comparable in all groups with similar improvement of EF and reduction of cardiac chambers dimensions (response of treatment, defined by improvement of FE +15% and/or decreased of indexed left ventricule diastolic volume −15% = group 2: 22 (76%); group 3: 18 (60%); group 1: 9 (50%); p=0.17; OR group 2 vs 1: OR=3.14; IC95% [0.9–11.03]; p=0.074; OR group 3 vs 1: OR=1.5; IC95% [0.46–4.87]; p=0.5)). The clinical response was even better in phenogroups 2 and 3 (Group 2: 19 (66%); group 3: 21 (78%) vs group 1: 9 (50%); p=0.05). Heat map Conclusion HF-REF patients with severe diastolic dysfunction, significant mitral regurgitation and elevated pulmonary hypertension by echocardiographic had similar reverse remodeling but better clinical improvement than patients with isolated left ventricular systolic dysfunction.

scholarly journals High level of growth differentiation factor 15 and lower left ventricular ejection fraction as predictors of left atrial thrombosis in patients with nonvalvular atrial fibrillation

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
A.V Belokurova ◽  
T.P Gizatulina ◽  
N.Y.U Khorkova ◽  
L.U Martyanova ◽  
T.I Petelina ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Ejection Fraction ◽  
Left Atrial ◽  
Roc Analysis ◽  
Left Ventricular ◽  
Growth Differentiation Factor 15 ◽  
Differentiation Factor ◽  
Group 2 ◽  
High Level ◽  
Group 1

Abstract Background The presence of left atrial/left atrial appendage (LA/LAA) thrombus is used as a surrogate marker of potential stroke in patients (pts) with atrial fibrillation (AF). Purpose To assess the role of growth differentiation factor 15 (GDF-15) level, clinical and echocardiographic (EchoCG) data as predictors of LA/LAA thrombus in pts with nonvalvular AF. Methods Out of 158 pts with nonvalvular AF admitted to Cardiology Center for radiofrequency ablation or elective cardioversion in 2019–2020 2 groups were formed according to transesophageal EchoCG results: group 1 included pts without LA/LAA thrombus (n=102, mean age 59.5±6.0 years) and group 2 (n=42, mean age 60.9±8.8 years) – pts with LA/LAA thrombus. Arterial hypertension was found in 93 pts of group 1 (91%) and in 40 pts of group 2 (95%, p=0.42), coronary artery disease - in 53 pts (52%) and 29 pts (69%), respectively (p=0.06). Both groups did not differ in frequency and spectrum of oral anticoagulants administration. General clinical assessment, EchoCG, and laboratory tests were performed, including GDF-15 (pg/ml) levels using Human GDF-15/MIC-1 ELISA kit and NT-proBNP (pg/ml) in blood. Results Pts with LA/LAA thrombus more often had persistent AF, while paroxysmal AF was more common in pts without thrombus. There was a tendency to more significant congestive heart failure in group 2. Mean CHA2DS2-VASc score was higher in pts with LA/LAA thrombus, also there was a tendency to a larger proportion of pts with scores ≥3. According to EchoCG data, sizes and volumes of both atria, right ventricle, end-systolic volume, left ventricular (LV) size, pulmonary artery systolic pressure and LV mass index were higher in group 2; LV ejection fraction (LVEF) was normal in both groups, but it was significantly lower in pts with LA/LAA thrombus: 59.1±5.1 and 64.0±7.3, respectively (p&lt;0.001). GDF-15 and NT-proBNP levels were significantly higher in group 2 compared to group 1: p=0.00025 and p=0.ehab724.048801 respectively. According to ROC analysis cut-off were set at level &gt;935.0 pg/ml for GDF-15 (AUC=0.705, 95% CI 0.609–0.800, p&lt;0.001) and &gt;143 pg/ml for NT-proBNP (AUC=0.759, 95% CI 0.670–0.849, p&lt;0.001). Multivariate logistic regression revealed the following variables as independent predictors of LAAT: GDF-15 &gt;935.0 pg/ml (OR=4.132, 95% CI 1.305–13.084) and LVEF (OR=0.859, 95% CI 0.776–0.951). According to ROC analysis, the model had a good quality: AUC=0.776 (p&lt;0.001), sensitivity was 78.3%., specificity - 78.3%. Conclusion High level of GDF-15 (&gt;935.0 pg/ml) along with lower LVEF are independent predictors of LA/LAA thrombus in pts with nonvalvular AF. FUNDunding Acknowledgement Type of funding sources: None.

scholarly journals The prognostic value of the NT-proBNP biomarkers and Fas ligand in assessing the risk of cardiotoxicity of anthracycline chemotherapy

2019 ◽  
Vol 18 (1) ◽  
pp. 127-133
Author(s):  
A. T. Teplyakov ◽  
S. N. Shilov ◽  
A. A. Popova ◽  
E. N. Berezikova ◽  
M. N. Neupokoeva ◽  
...  
Keyword(s):  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Fas Ligand ◽  
Left Ventricular ◽  
Ventricular Ejection ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Group 2 ◽  
Anthracycline Chemotherapy ◽  
Group 1

Aim. To study the mechanisms, features of clinical manifestations and predicting of cardiotoxicity resulting from anthracycline chemotherapy.Material and methods. We examined 176 women with breast cancer who received anthracycline antibiotics as part of polychemotherapeutic (PCT) treatment. Patients were divided into 2 groups: with the development of cardiotoxic remodeling — group 1 (n=52) and with preserved heart function — group 2 (n=124). We conducted echocardiographic (EchoCG) tests before the start, during and after anthracycline chemotherapy. In the serum after the termination of PCT treatment, the concentrations of N-terminal prohormone of brain natriuretic peptide (NT-proBNP) and soluble Fas ligand (sFas-L) were determined.Results. Analysis of EchoCG parameters in patients after 12 months of PCT finish, showed a significant difference in the final systolic and end diastolic sizes, as well as a significant decrease in the left ventricular ejection fraction in group 1 compared with those before the start of treatment. A direct correlation was found between the end-systolic and end-diastolic volumes and inverse correlation between left ventricular ejection fraction and the resulting summary dose of doxorubicin. EchoCG changes in women of group 1 after the first course of PCT treatment were recorded in 49% of cases and 11% of cases — in group 2. The concentrations of sFas-L and NT-proBNP after PCT therapy finish in group 1 were significantly higher compared with group 2. Patients with significantly elevated NT-proBNP levels were had a high risk of heart disease developing during 12 months follow-up. A high concentration of NT-proBNP is a predictor of cardiovascular complications, which is more sensitive than EchoCG.Conclusion. Fas-associated apoptosis plays an important role in the pathogenesis of anthracycline cardiotoxicity. NT-proBNP may be an important biomarker for cardiotoxicity development, which already effective when EchoCG or clinical signs is absent.

scholarly journals Duchenne muscular dystrophy patients lacking the dystrophin isoforms Dp140 and Dp71 and mouse models lacking Dp140 have a more severe motor phenotype

2021 ◽  
Author(s):  
Mary Chesshyre ◽  
Deborah Ridout ◽  
Yasumasa Hashimoto ◽  
Yoko Ookubo ◽  
Silvia Torelli ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Grip Strength ◽  
Mouse Models ◽  
Motor Function ◽  
Wild Type ◽  
Group 3 ◽  
Group 2 ◽  
Group 1

Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full length Dp427 is the primary dystrophin isoform expressed in skeletal muscle and is also expressed in the central nervous system (CNS). Two shorter isoforms, Dp140 and Dp71, are highly expressed in the CNS. While a role for Dp140 and Dp71 on DMD CNS co-morbidities is well known, relationships between lack of Dp140 and Dp71 and DMD motor outcomes are not. We have conducted a series of investigations addressing this. Methods Functional outcome data from 387 DMD boys aged 4.0-15.4 years was subdivided by DMD mutation expected effect on isoform expression; Group 1 (Dp427 absent, Dp140/Dp71 present, n=201); group 2 (Dp427/Dp140 absent, Dp71 present, n=152); and group 3 (Dp427/Dp140/Dp71 absent, n=34). Relationships between isoform group and North Star ambulatory assessment (NSAA) scores, 10m walk/run and rise times were explored using regression analysis. We used Capillary Western immunoassay (Wes) analysis to study Dp427, Dp140 and Dp71 production in wild-type and DMD skeletal muscle and myogenic cultures. Grip strength was studied in wild-type, mdx (Dp427 absent, Dp140/Dp71 present), mdx52 (Dp427/Dp140 absent, Dp71 present) and DMD-null (lacking all isoforms) mice. Results In DMD boys, we found a strong association between isoform group and motor function. In DMD boys, mean NSAA scores at 5 years of age were 6.1 points lower in group 3 than group 1 (p<0.01) and 4.9 points lower in group 3 than group 2 (p=0.05). Mean peak NSAA scores were 4.0 points lower in group 3 than group 1 (p<0.01), 2.4 points lower in group 3 than group 2 (p=0.09) and 1.6 points lower in group 2 than group 1 (p=0.04). Average grip strength in peak force at 3 months of age was higher in mdx than mdx52 mice (p=0.01). Dp427, but not Dp71, was produced in normal skeletal muscle; low levels of Dp71 were detected in DMD skeletal muscle. High Dp71 levels were present in wild-type and DMD myogenic cultures. Conclusions DMD boys lacking Dp140 and Dp140/Dp71 displayed worse motor function with a cumulative effect of isoform loss. DMD mouse models lacking Dp427 and Dp140 had lower grip strength than those lacking Dp427 but not Dp140. Our results highlight the importance of considering the effects of dystrophin isoform loss on DMD motor impairment, with important implications for understanding the complex relationship between brain and muscle function in DMD and patient stratification for clinical trials.

scholarly journals Left Ventricular Magnetic Resonance Imaging Strain Predicts the Onset of Duchenne Muscular Dystrophy–Associated Cardiomyopathy

2020 ◽  
Vol 13 (11) ◽  
Author(s):  
Saira Siddiqui ◽  
Tarek Alsaied ◽  
Sarah E. Henson ◽  
Janvi Gandhi ◽  
Priyal Patel ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Duchenne Muscular Dystrophy ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Ejection Fraction ◽  
Radial Strain ◽  
Left Ventricular ◽  
3 Dimensional ◽  
Lv Dysfunction ◽  
Lv Ejection Fraction

Background: Early detection of left ventricular (LV) dysfunction before the onset of overt Duchenne muscular dystrophy–associated cardiomyopathy (DMDAC) may direct clinical management to slow onset of dysfunction. We aimed to assess whether LV strain will predict those who develop DMDAC. Methods: We performed a single center retrospective case control study of patients with Duchenne muscular dystrophy who underwent serial cardiac magnetic resonance between 2006 and 2019. Patients with Duchenne muscular dystrophy with an LV ejection fraction ≥55% on ≥1 cardiac magnetic resonance were identified and grouped into age-matched +DMDAC and –DMDAC. Within 3 years, +DMDAC had a subsequent cardiac magnetic resonance with a decline in LV ejection fraction ≥10% and absolute LV ejection fraction ≤50%. −DMDAC maintained an LV ejection fraction ≥55% on serial cardiac magnetic resonances. Two-dimensional and 3-dimensional global radial strain, global circumferential strain (GCS), and global longitudinal strain were measured using tissue tracking software and their ability to predict DMDAC onset was assessed. Multivariable analysis adjusted for late gadolinium enhancement. Results: Thirty +DMDAC and 30 age-matched −DMDAC patients were included with a total of 164 studies analyzed. Before DMDAC onset, 2-dimensional global radial strain and GCS were significantly worse in +DMDAC compared with −DMDAC (25.1±6.0 versus 29.0±6.3, P =0.011; −15.4%±2.4 versus −17.3%±2.6, P =0.003). Three-dimensional GCS and global radial strain had similar findings. Among strain measures, 3-dimensional GCS had the highest area under the curve to predict DMDAC in our cohort. These findings persisted after adjusting for the presence of late gadolinium enhancement. Conclusions: Reduced global radial strain and GCS may predict those at risk for developing DMDAC before onset of LV dysfunction and its clinical utility warrants further exploration.

Implication of regular pulmonary function evaluation in Duchenne muscular dystrophy

2020 ◽  
Author(s):  
Jang Woo Lee ◽  
Seong-Woong Kang ◽  
Eun Young Kim ◽  
Won Ah Choi
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Pulmonary Function ◽  
Outpatient Clinic ◽  
Function Evaluation ◽  
Medical Surveillance ◽  
Arterial Blood ◽  
Group 2 ◽  
Group 1

Abstract Background Various factors are considered when determining the need to initiate noninvasive ventilation (NIV), for example hypoventilatory symptoms, forced vital capacity (FVC), maximal inspiratory pressure (MIP), and end-tidal carbon dioxide. We aim to reveal the clinical importance of regular pulmonary function evaluation before the initiation of NIV by comparing Duchenne muscular dystrophy (DMD) patients with and without regular medical surveillance. Methods This retrospective study analyzes successful applications of NIV in our pulmonary rehabilitation center. We assigned 200 DMD patients, hospitalized between June 2006 and August 2019, to one of two groups, according to their follow-up status before NIV initiation. Group 1 (n = 102) had been followed-up regularly via the outpatient clinic at least twice a year. Group 2 (n = 98) was hypercapnic, either at the first visit, or re-visit after having missed the outpatient clinic appointment for more than one year. Results Significantly more patients were admitted via emergency room in group 2 (2.0% in group 1 and 28.6% in group 2). The patients’ age was higher in group 2 (18.3 ± 3.7 years in group and 21.2 ± 4.8 years in group 2). Ventilatory status evaluated by arterial blood gas analysis and transcutaneous continuous monitoring was better in group 1 than that of group 2. And all measures of pulmonary function, including FVC, peak cough flow, MIP, maximal expiratory pressure, and ventilatory status, were superior in group 1, too. Conclusions Regular follow-up before the onset of ventilatory insufficiency is crucial for the timely application of NIV, and appropriate NIV can exert a preventive effect on respiratory function deterioration.

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