scholarly journals Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
Tetsushi Yamamoto ◽  
Hiroyuki Awano ◽  
Zhujun Zhang ◽  
Mio Sakuma ◽  
Shoko Kitaaki ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Left Ventricular Ejection Fraction ◽  
Muscular Dystrophy ◽  
Ejection Fraction ◽  
Cardiac Dysfunction ◽  
Cardiac Involvement ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Coding Region ◽  
Ventricular Ejection Fraction

Background Duchenne muscular dystrophy (DMD), the most common inherited muscular disease in childhood, is caused by dystrophin deficiency because of mutations in the DMD gene. Although DMD is characterized by fatal progressive muscle wasting, cardiomyopathy is the most important nonmuscle symptom threatening the life of patients with DMD. The relationship between cardiac involvement and dystrophin isoforms has not been analyzed. Methods and Results The results of 1109 echocardiograms obtained from 181 Japanese DMD patients with confirmed mutations in the DMD gene were retrospectively analyzed. Patients showed an age-related decline in left ventricular ejection fraction. Patients were divided by patterns of dystrophin isoform deficiency into 5 groups. The cardiac dysfunction-free survival was significantly higher in the group with mutations in the Dp116 coding region than the others, whereas no significant differences in the other 3 groups. At age 25 years, the cardiac dysfunction-free rate was 0.6 in the Dp116 group, but only 0.1 in others. PCR amplification of Dp116 transcript in human cardiac muscle indicated promoter activation. Conclusions Left ventricular ejection fraction in DMD declined stepwise with age. Cardiac dysfunction was less frequent in Dp116-deficient than other patients with DMD. Dp116 transcript was identified in human cardiac muscle for the first time. These results indicate that Dp116 is associated with cardiac involvement in DMD.

scholarly journals Lingguizhugan decoction attenuates doxorubicin-induced heart failure in rats by improving TT-SR microstructural remodeling

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Xueping Li ◽  
Guangmin Xu ◽  
Shujun Wei ◽  
Baocheng Zhang ◽  
Huan Yao ◽  
...  
Keyword(s):  
Heart Failure ◽  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Cardiac Dysfunction ◽  
Left Ventricular ◽  
The Body ◽  
Ventricular Ejection ◽  
Left Ventricular Ejection ◽  
Heart Weight ◽  
Ventricular Ejection Fraction

Abstract Background Lingguizhugan decoction (LGZG), an ancient Chinese herbal formula, has been used to treat cardiovascular diseases in eastern Asia. We investigated whether LGZG has protective activity and the mechanism underlying its effect in an animal model of heart failure (HF). Methods A rat model of HF was established by administering eight intraperitoneal injections of doxorubicin (DOX) (cumulative dose of 16 mg/kg) over a 4-week period. Subsequently, LGZG at 5, 10, and 15 mL/kg/d was administered to the rats intragastrically once daily for 4 weeks. The body weight, heart weight index (HWI), heart weight/tibia length ratio (HW/TL), and serum BNP level were investigated to assess the effect of LGZG on HF. Echocardiography was performed to investigate cardiac function, and H&E staining to visualize myocardial morphology. Myocardial ultrastructure and T-tubule-sarcoplasmic reticulum (TT-SR) junctions were observed by transmission electron microscopy. The JP-2 protein level was determined by Western blotting. The mRNA level of CACNA1S and RyR2 and the microRNA-24 (miR-24) level were assayed by quantitative RT-PCR. Results Four weeks after DOX treatment, rats developed cardiac damage and exhibited a significantly increased BNP level compared with the control rats (169.6 ± 29.6 pg/mL versus 80.1 ± 9.8 pg/mL, P < 0.001). Conversely, LGZG, especially at the highest dose, markedly reduced the BNP level (93.8 ± 17.9 pg/mL, P < 0.001). Rats treated with DOX developed cardiac dysfunction, characterized by a strong decrease in left ventricular ejection fraction compared with the control (58.5 ± 8.7% versus 88.7 ± 4.0%; P < 0.001). Digoxin and LGZG improved cardiac dysfunction (79.6 ± 6.1%, 69.2 ± 2.5%, respectively) and preserved the left ventricular ejection fraction (77.9 ± 5.1, and 80.5 ± 4.9, respectively, P < 0.01). LGZG also improved the LVEDD, LVESD, and FS and eliminated ventricular hypertrophy, as indicated by decreased HWI and HW/TL ratio. LGZG attenuated morphological abnormalities and mitochondrial damage in the myocardium. In addition, a high dose of LGZG significantly downregulated the expression of miR-24 compared with that in DOX-treated rats (fold change 1.4 versus 3.4, P < 0.001), but upregulated the expression of JP-2 and antagonized DOX-induced T-tubule TT-SR microstructural remodeling. These activities improved periodic Ca2+ transients and cell contraction, which may underly the beneficial effect of LGZG on HF. Conclusions LGZG exerted beneficial effects on DOX-induced HF in rats, which were mediated in part by improved TT-SR microstructural remodeling.

scholarly journals Myocardial involvement and deformation abnormalities in idiopathic inflammatory myopathy assessed by CMR feature tracking

2020 ◽  
Author(s):  
Johannes Kersten ◽  
Ahmet Muhammed Güleroglu ◽  
Angela Rosenbohm ◽  
Dominik Buckert ◽  
Albert Christian Ludolph ◽  
...  
Keyword(s):  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Longitudinal Strain ◽  
Cardiac Involvement ◽  
Left Ventricular ◽  
Ventricular Ejection ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Deformation Parameters

Abstract Background Cardiac involvement has been described in idiopathic inflammatory myopathies (IIM), including non-specific ECG and echocardiographic findings. Aim of our study was to evaluate myocardial deformation parameters in IIM and to correlate them with late gadolinium enhancement (LGE) findings using cardiac magnetic resonance imaging (CMR). Methods Forty-seven consecutive patients with histologically proven IIM were included into our study. Twenty-five healthy volunteers were used as a control group. All patients and controls underwent CMR examination using a 1.5 T scanner including functional cine and LGE imaging. After a mean follow-up of 234.7 ± 79.5 days a second CMR examination was performed in IIM patients. Results In comparison to healthy volunteers, IIM patients had lower left ventricular mass and left ventricular global radial, circumferential and longitudinal strain. There was no significant difference in left ventricular ejection fraction. Patients with LGE (N = 28) had lower left ventricular ejection fraction (p = 0.016), global right and left ventricular longitudinal strain (p = 0.014 and p = 0.005) and global left ventricular diastolic longitudinal strain rate (p = 0.001) compared to patients without LGE (N = 19). In IIM patients, a significant decrease of left ventricular ejection fraction, left ventricular mass and all measured deformation parameters was observed between baseline and follow-up CMR. Conclusion Cardiac involvement in IIM is frequent. Impairment of systolic and diastolic deformation parameters and a worsening over time can be observed. CMR is a useful tool for cardiac diagnostic work-up of these patients.

scholarly journals Cardiac sarcoidosis: frequency, diagnostic approach and follow-up in a tertiary center

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
N Van Der Velde ◽  
A Poleij ◽  
H.C Hassing ◽  
M.J Lenzen ◽  
R.P.J Budde ◽  
...  
Keyword(s):  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Cardiac Involvement ◽  
Cardiac Sarcoidosis ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Cardiac Symptoms ◽  
Tertiary Center

Abstract Background Cardiac sarcoidosis (CS) is associated with poor prognosis, making early diagnosis and treatment important. The aim of this study is to evaluate our diagnostic results and follow-up for the diagnosis of CS in a tertiary center. Methods We studied 188 patients with proven extra-cardiac sarcoidosis referred to our outpatient clinic for evaluation of cardiac involvement. Eight patients were excluded because electrocardiogram (ECG) and/or transthoracic echocardiography (TTE) was missing. Cardiac magnetic resonance (CMR) and/or positron emission tomography (PET) was performed in 66% and 37% of the patients, respectively. Median follow-up duration was 2.9 [1.2–5.3] years. The diagnosis of CS was based on the Heart Rhythm Society criteria. Results Cardiac symptoms defined as palpitations, angina, dyspnea and (near)-syncope were present in 156 of 180 (87%) patients. Any abnormality on ECG (bundle branch blocks, atrioventricular blocks, sinus tachycardia or atrial fibrillation) and/or TTE (left ventricular ejection fraction &lt;55%, presence of regional wall abnormalities or myocardial hypertrophy) was found in 92/180 (51%) patients. CS was diagnosed in 42 of 180 (23%) patients, of whom 31 (74%) had any ECG and/or TTE abnormalities. However, ECG and/or TTE abnormalities were also present in 44% of the patients without cardiac involvement. Patients with CS showed a second type II or third degree AV-blocks in 3/42 (7%), a left ventricular ejection fraction &lt;35% on TTE in 9/42 (21%), late gadolinium enhancement by CMR consistent with CS in 28/34 (82%), and myocardial FDG uptake by PET in 19/31 (61%). In 84 of the 138 patients without cardiac involvement, CMR was performed. In 15 patients an alternative diagnosis was found (i.e. myocardial infarction or other non-ischemic cardiomyopathy). The estimated 8-year cumulative event rate composite endpoint of sustained ventricular tachycardia, ventricular fibrillation, aborted sudden cardiac death, heart transplantation and all-cause mortality was 41% in the CS patients and 12% in the patients without CS (Figure 1, p&lt;0.001). Conclusions In our study, 23% of the patients with proven extra-cardiac sarcoidosis was diagnosed with CS. Cardiac symptoms, ECG and TTE were of limited diagnostic value for screening for CS. CMR provided a good diagnostic yield and identified other cardiac diseases in a substantial number of patients. Figure 1. KMCurve_CompositeEndpoint Funding Acknowledgement Type of funding source: None

scholarly journals Transient Cardiomyopathy in a Patient With Coronavirus Disease-2019

2020 ◽  
Vol 8 ◽  
pp. 232470962094757 ◽  
Author(s):  
B. K. Anupama ◽  
Simant S. Thapa ◽  
Ioana Amzuta
Keyword(s):  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Cardiac Dysfunction ◽  
Inflammatory Markers ◽  
Left Ventricular ◽  
Inotropic Support ◽  
Left Ventricular Ejection ◽  
Plasma Therapy ◽  
Ventricular Ejection Fraction ◽  
Echocardiographic Evidence

A 66-year-old male patient with coronavirus disease-19 (COVID-19) developed cardiogenic shock with echocardiographic evidence of decreased left ventricular ejection fraction and global hypokinesia concomitant with a robust systemic inflammatory response. Following the administration of convalescent plasma therapy and inotropic support, left ventricular function recovered fully in accordance with the decrease in the concentration of the inflammatory markers. Thus, we demonstrate the presence of transient reversible cardiomyopathy in a patient with severe COVID-19 and illustrate the association of acute cardiac dysfunction with profound systemic inflammation among COVID-19 patients.

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