scholarly journals Prevalence and Clinical Outcomes of Dystrophin associated Dilated Cardiomyopathy without severe skeletal myopathy

2021 ◽  
Author(s):  
Maria Alejandra Restrepo‐Cordoba ◽  
Karim Wahbi ◽  
Anca R. Florian ◽  
Juan Jiménez‐Jáimez ◽  
Luisa Politano ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Clinical Outcomes ◽  
Skeletal Myopathy

Association of diet with clinical outcomes in dogs with dilated cardiomyopathy and congestive heart failure

2021 ◽  
Author(s):  
Ashley L. Walker ◽  
Teresa C. DeFrancesco ◽  
John D. Bonagura ◽  
Bruce W. Keene ◽  
Kathryn M. Meurs ◽  
...  
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Dilated Cardiomyopathy ◽  
Clinical Outcomes

scholarly journals A case of atypical systemic primary carnitine deficiency in Saudi Arabia

2018 ◽  
Vol 10 (2) ◽  
Author(s):  
Abdulrahman Alghamdi ◽  
Hani Almalki ◽  
Aiman Shawli ◽  
Rahaf Waggass ◽  
Fahad Hakami
Keyword(s):  
Dilated Cardiomyopathy ◽  
Autosomal Recessive ◽  
Acid Metabolism ◽  
Age Of Onset ◽  
Carnitine Deficiency ◽  
Proximal Muscle ◽  
Skeletal Myopathy ◽  
Primary Carnitine Deficiency ◽  
Elevated Transaminases ◽  
Work Up

Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on the age of onset and organs involved. During infancy, patients might show episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia. Skeletal myopathy, elevated creatine kinase, and cardiomyopathy are the main manifestations in children with SPCD, while in adults, the disorder is usually manifested as cardiomyopathy, arrhythmias, or fatigability. Here, we report a 5-year-old boy with SPCD that presented as dilated cardiomyopathy with atypical features, such as anemia, respiratory distress, and proximal muscle weakness. This report supports considering carnitine deficiency treatment in the work-up of unexplained pediatric dilated cardiomyopathy.

scholarly journals Inflammation-Related Biomarkers Are Associated with Heart Failure Severity and Poor Clinical Outcomes in Patients with Non-Ischemic Dilated Cardiomyopathy

Life ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 1006
Author(s):  
Ieva Kažukauskienė ◽  
Vaida Baltrūnienė ◽  
Ieva Rinkūnaitė ◽  
Edvardas Žurauskas ◽  
Dalius Vitkus ◽  
...  
Keyword(s):  
Heart Failure ◽  
Dilated Cardiomyopathy ◽  
Clinical Outcomes ◽  
Interleukin 6 ◽  
Cardiac Event ◽  
Tnf Α ◽  
Failure Severity ◽  
Non Ischemic Dilated Cardiomyopathy ◽  
Hs Crp ◽  
Heart Failure Severity

Inflammation-related biomarkers are associated with clinical outcomes in mixed-etiology chronic heart failure populations. Inflammation-related markers tend to be higher in ischemic than in non-ischemic dilated cardiomyopathy (NI-DCM) patients, which might impact their prognostic performance in NI-DCM patients. Therefore, we aimed to assess the association of inflammation-related biomarkers with heart failure severity parameters and adverse cardiac events in a pure NI-DCM patient cohort. Fifty-seven patients with NI-DCM underwent endomyocardial biopsy. Biopsies were evaluated by immunohistochemistry for CD3+, CD45ro+, CD68+, CD4+, CD54+, and HLA-DR+ cells. Blood samples were tested for high-sensitivity C-reactive protein (hs-CRP), interleukin-6, tumor necrosis factor-α (TNF-α), soluble urokinase-type plasminogen activator receptor and adiponectin. During a five-year follow-up, twenty-seven patients experienced at least one composite adverse cardiac event: left ventricle assist device implantation, heart transplantation or death. Interleukin-6, TNF-α and adiponectin correlated with heart failure severity parameters. Patients with higher levels of interleukin-6, TNF-α, adiponectin or hs-CRP, or a higher number of CD3+ or CD45ro+ cells, had lower survival rates. Interleukin-6, adiponectin, and CD45ro+ cells were independently associated with poor clinical outcomes. All patients who had interleukin-6, TNF-α and adiponectin concentrations above the threshold experienced an adverse cardiac event. Therefore, a combination of these cytokines can identify high-risk NI-DCM patients.

scholarly journals An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish

eLife ◽  
2015 ◽  
Vol 4 ◽  
Author(s):  
Jun Zou ◽  
Diana Tran ◽  
Mai Baalbaki ◽  
Ling Fung Tang ◽  
Annie Poon ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Disease Severity ◽  
Protein Product ◽  
Dominant Negative ◽  
Precise Position ◽  
Internal Promoter ◽  
Sarcomeric Protein ◽  
Skeletal Myopathy ◽  
The Difference ◽  
Shed Light

Truncating mutations in the giant sarcomeric protein Titin result in dilated cardiomyopathy and skeletal myopathy. The most severely affected dilated cardiomyopathy patients harbor Titin truncations in the C-terminal two-thirds of the protein, suggesting that mutation position might influence disease mechanism. Using CRISPR/Cas9 technology, we generated six zebrafish lines with Titin truncations in the N-terminal and C-terminal regions. Although all exons were constitutive, C-terminal mutations caused severe myopathy whereas N-terminal mutations demonstrated mild phenotypes. Surprisingly, neither mutation type acted as a dominant negative. Instead, we found a conserved internal promoter at the precise position where divergence in disease severity occurs, with the resulting protein product partially rescuing N-terminal truncations. In addition to its clinical implications, our work may shed light on a long-standing mystery regarding the architecture of the sarcomere.

Novel Mutation in Splicing Donor of Dystrophin Gene First Exon in a Patient With Dilated Cardiomyopathy but No Clinical Signs of Skeletal Myopathy

2007 ◽  
Vol 22 (7) ◽  
pp. 901-906 ◽  
Author(s):  
Shigemi Kimura ◽  
Makoto Ikezawa ◽  
Shiro Ozasa ◽  
Kaori Ito ◽  
Hiroe Ueno ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Novel Mutation ◽  
Clinical Signs ◽  
Dystrophin Gene ◽  
Skeletal Myopathy

scholarly journals Comparison of clinical outcomes in peripartum cardiomyopathy and age-matched dilated cardiomyopathy

Medicine ◽  
2017 ◽  
Vol 96 (19) ◽  
pp. e6898 ◽  
Author(s):  
Cheng-Hui Lu ◽  
Wen-Chen Lee ◽  
Michael Wu ◽  
Shao-Wei Chen ◽  
Jih-Kai Yeh ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Clinical Outcomes ◽  
Peripartum Cardiomyopathy

Association between toll-like receptor 8 expression and adverse clinical outcomes in patients with enterovirus-associated dilated cardiomyopathy

2007 ◽  
Vol 154 (3) ◽  
pp. 581-588 ◽  
Author(s):  
Mamoru Satoh ◽  
Tomonari Akatsu ◽  
Yuh Ishikawa ◽  
Yoshitaka Minami ◽  
Yuji Takahashi ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Clinical Outcomes ◽  
Toll Like Receptor
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