scholarly journals Energy Metabolites as Biomarkers in Ischemic and Dilated Cardiomyopathy

2021 ◽  
Vol 22 (4) ◽  
pp. 1999
Author(s):  
Jan Haas ◽  
Karen S. Frese ◽  
Farbod Sedaghat-Hamedani ◽  
Elham Kayvanpour ◽  
Rewati Tappu ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Energy Production ◽  
Citric Acid Cycle ◽  
Left Ventricular ◽  
Epigenetic Changes ◽  
Second Stage ◽  
Biopsy Specimens ◽  
Genes Encoding ◽  
Global Threat ◽  
Rate Limiting

With more than 25 million people affected, heart failure (HF) is a global threat. As energy production pathways are known to play a pivotal role in HF, we sought here to identify key metabolic changes in ischemic- and non-ischemic HF by using a multi-OMICS approach. Serum metabolites and mRNAseq and epigenetic DNA methylation profiles were analyzed from blood and left ventricular heart biopsy specimens of the same individuals. In total we collected serum from n = 82 patients with Dilated Cardiomyopathy (DCM) and n = 51 controls in the screening stage. We identified several metabolites involved in glycolysis and citric acid cycle to be elevated up to 5.7-fold in DCM (p = 1.7 × 10−6). Interestingly, cardiac mRNA and epigenetic changes of genes encoding rate-limiting enzymes of these pathways could also be found and validated in our second stage of metabolite assessment in n = 52 DCM, n = 39 ischemic HF and n = 57 controls. In conclusion, we identified a new set of metabolomic biomarkers for HF. We were able to identify underlying biological cascades that potentially represent suitable intervention targets.

scholarly journals Neopterin and Beta-2 Microglobulin Relations to Immunity and Inflammatory Status in Nonischemic Dilated Cardiomyopathy Patients

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Celina Wojciechowska ◽  
Jan Wodniecki ◽  
Romuald Wojnicz ◽  
Ewa Romuk ◽  
Wojciech Jacheć ◽  
...  
Keyword(s):  
Heart Failure ◽  
Dilated Cardiomyopathy ◽  
Acute Phase ◽  
Endomyocardial Biopsy ◽  
Acute Phase Proteins ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Biopsy Specimens ◽  
Hla Dr ◽  
Group A

Background. The aim of the study was to assess the relationships among serum neopterin (NPT),β2-microglobulin (β2-M) levels, clinical status, and endomyocardial biopsy results of dilated cardiomyopathy patients (DCM).Methods. Serum NPT andβ-2 M were determined in 172 nonischaemic DCM patients who underwent right ventricular endomyocardial biopsy and 30 healthy subjects (ELISA test). The cryostat biopsy specimens were assessed using histology, immunohistology, and immunochemistry methods (HLA ABC, HLA DR expression, CD3 + lymphocytes, and macrophages counts).Results. The strong increase of HLA ABC or HLA DR expression was detected in 27.2% patients—group A—being low in 72.8% patients—group B. Neopterin level was increased in patients in group A compared to healthy controls 8.11 (4.50–12.57) versus 4.99 (2.66–8.28) nmol/L (P<0.05).β-2 microglobulin level was higher in DCM groups A (2.60 (1.71–3.58)) and B (2.52 (1.51–3.72)) than in the control group 1.75 (1.28–1.96) mg/L,P<0.001. Neopterin correlated positively with the number of macrophages in biopsy specimens (P<0.05) acute phase proteins: C-reactive proteins (P<0.05); fibrinogen (P<0.01); and NYHA functional class (P<0.05) and negatively with left ventricular ejection fraction (P<0.05).Conclusions. Neopterin but notβ-2 microglobulin concentration reflected immune response in biopsy specimens. Neopterin correlated with acute phase proteins and stage of heart failure and may indicate a general immune and inflammatory activation in heart failure.

Relationships between left ventricular geometry and remodeling in dilated cardiomyopathy

2019 ◽  
Vol 67 (4) ◽  
Author(s):  
Ewa Dziewięcka ◽  
Sylwia Wiśniowska-Śmiałek ◽  
Lusine Khachatryan ◽  
Aleksandra Karabinowska ◽  
Maria Szymonowicz ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Left Ventricular ◽  
Left Ventricular Geometry ◽  
Ventricular Geometry

A STUDY ON THE CORRELATION BETWEEN MORPHOLOGIC ANORMALIES AND LEFT VENTRICULAR DIASTOLIC FUNCTION IN DILATED CARDIO-MYOPATHY

2011 ◽  
pp. 137-144
Author(s):  
Thi Ngoc Ha Hoang ◽  
Anh Vu Nguyen ◽  
Minh Loi Hoang ◽  
Cuu Long Nguyen ◽  
Thi Thuy Hang Nguyen
Keyword(s):  
Pulmonary Artery ◽  
Dilated Cardiomyopathy ◽  
Diastolic Dysfunction ◽  
Diastolic Function ◽  
Pulmonary Arteries ◽  
Left Ventricular ◽  
University Hospital ◽  
Cross Sectional ◽  
X Ray ◽  
Key Words Dilated Cardiomyopathy

Purposes: Describe the morphological and diastolic function of left ventricular changes in the patients with dilated cardiomyopathy (DCM) on US, X-ray findings, and Evaluate the correlation between morphology and diastolic function of left ventricular. Materials and method: Cross sectional study from Dec 2009 to Aug 2010, on 39 patients with dilated cardiomyopathy were evaluated at the University Hospital of Hue College of Medical and Pharmaceutical. Results: 1. X-ray and US findings characteristics of DCM is significantly increased in diameter of L, H and mG; LVM, LVMI, LVDd and LAD. 2. The pression of pulmonary artery has been significantly increased with redistribution pulmonary arteries in 61.5% cases and 23.1% have reversed pulmonary artery distribution. 3. DCM have diastolic dysfunction in 100% patients, including severe disorders to 61.5%; the restrictive dysfunction has ratio E/A>2 and E/Em average was 23.89± 17.23. 4.The correlation between the morphology and function in DCM: the diameter of H and L on the X-ray, LAD and ratio LA/AO on US correlated with the level of diastolic dysfunction (p< 0.05). All three radiographic parameters on the radio standard (H, L, the index Cardio/Thoracic) and LVDd on US have negative correlated with EF and FS with p <0.05. Key words: dilated cardiomyopathy, diastolic dysfunction, cardiac tissue Doppler, reversed pulmonary artery distribution

scholarly journals Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report

2021 ◽  
Vol 73 (1) ◽  
Author(s):  
Soumi Das ◽  
Sandeep Seth
Keyword(s):  
Ejection Fraction ◽  
Dilated Cardiomyopathy ◽  
Age Of Onset ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Early Age ◽  
Indian Patient ◽  
Ventricular Ejection Fraction ◽  
First Case

Abstract Background Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilation and a left ventricular ejection fraction of less than 40%. Unlike hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC), DCM-causing mutations are present in a large number of genes. In the present study, we report a case of the early age of onset of DCM associated with a pathogenic variant in the RBM20 gene in a patient from India. Case presentation A 19-year-old Indian male diagnosed with DCM was suggested for heart transplantation. His ECG showed LBBB and echocardiography showed an ejection fraction of 14%. He had a sudden cardiac death. A detailed family history revealed it to be a case of familial DCM. Genetic screening identified the c.1900C>T variant in the RBM20 gene which led to a missense variant of amino acid 634 (p.Arg634Trp). Conclusion To the best of our knowledge, the variant p.Arg634Trp has been earlier reported in the Western population, but this is the first case of p.Arg634Trp in an Indian patient. The variant has been reported to be pathogenic at an early age of onset; therefore, close clinical follow-up should be done for the family members caring for the variant.

scholarly journals Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins

2021 ◽  
Vol 22 (8) ◽  
pp. 4256
Author(s):  
Lorenzo Maggi ◽  
Manolis Mavroidis ◽  
Stelios Psarras ◽  
Yassemi Capetanaki ◽  
Giovanna Lattanzi
Keyword(s):  
Muscular Dystrophy ◽  
Cardiac Muscle ◽  
Intermediate Filament ◽  
Striated Muscle ◽  
Congenital Muscular Dystrophy ◽  
Left Ventricular ◽  
Intermediate Filament Proteins ◽  
Muscle Disorders ◽  
Genes Encoding ◽  
Molecular Aspects

Intermediate filaments are major components of the cytoskeleton. Desmin and synemin, cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament proteins, play key roles in skeletal and cardiac muscle. Desmin, encoded by the DES gene (OMIM *125660) and A-type lamins by the LMNA gene (OMIM *150330), have been involved in striated muscle disorders. Diseases include desmin-related myopathy and cardiomyopathy (desminopathy), which can be manifested with dilated, restrictive, hypertrophic, arrhythmogenic, or even left ventricular non-compaction cardiomyopathy, Emery–Dreifuss Muscular Dystrophy (EDMD2 and EDMD3, due to LMNA mutations), LMNA-related congenital Muscular Dystrophy (L-CMD) and LMNA-linked dilated cardiomyopathy with conduction system defects (CMD1A). Recently, mutations in synemin (SYNM gene, OMIM *606087) have been linked to cardiomyopathy. This review will summarize clinical and molecular aspects of desmin-, lamin- and synemin-related striated muscle disorders with focus on LMNA and DES-associated clinical entities and will suggest pathogenetic hypotheses based on the interplay of desmin and lamin A/C. In healthy muscle, such interplay is responsible for the involvement of this network in mechanosignaling, nuclear positioning and mitochondrial homeostasis, while in disease it is disturbed, leading to myocyte death and activation of inflammation and the associated secretome alterations.

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