Assessment of PDK4 and TTN gene variants in 48 Doberman Pinschers with dilated cardiomyopathy

2020 ◽  
Vol 257 (10) ◽  
pp. 1041-1044 ◽  
Author(s):  
Kathryn M. Meurs ◽  
Joshua A. Stern ◽  
Darcy Adin ◽  
Bruce W. Keene ◽  
Theresa C. De Francesco ◽  
...  
2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A Chaloupka ◽  
J Krejci ◽  
H Poloczkova ◽  
P Hude ◽  
E Ozabalova ◽  
...  

Abstract Background The aetiology of recent-onset dilated cardiomyopathy (RODCM) includes inflammatory, genetic, toxic and metabolic causes. Delineating the role of inflammation on the genetic background could improve risk stratification. Purpose We aimed to ascertain the role of inflammation evaluated by serum CRP immunohistochemical and PCR analysis of endomyocardial biopsy (EMB) in conjunction with genetic testing in left ventricular reverse remodelling (LVRR) in 12-month follow-up. Methods 83 RODCM patients enrolled in this prospective observational study underwent 12-month echocardiographic follow up whole-exome sequencing, and EMB. Presence of cardiotropic viruses was determined by PCR analysis of the EMB samples. Inflammation was defined according to TIMIC immunohistochemical criteria as the presence of >7 CD3+ lymphocytes/mm2 and/or >14 infiltrating leukocytes (LCA+ cells/mm2). LVRR was defined as an absolute increase in LV ejection fraction > +10% and a relative decrease of LV end-diastolic diameter >−10% at 12 months. Results LVRR occurred in 28 (34%) of all cases. PCR analysis uncovered cardiotropic viruses in 55 (66%) patients, with highest prevalence of parvovirus B19 (47%). (Figure 1) EMB analysis detected inflammation in 28 (34%) cases and inflammation significantly positively predicted LVRR (P=0.019). Sequencing identified disease-related gene variants (ACMG class 3–5) in 45 (54%) patients. Carriers of non-titin gene variants showed a lowest probability of 12-month LVRR (19%) P=0.041. Combination of genetic findings and inflammation did not improve the prediction of LVRR in 12 months. (Table 1) Conclusion Both myocardial inflammation and disease-causing variants can be identified in a large proportion of RODCM cases. Prognostic value of CRP and virus detection is low. Non-titin disease-related variants carriers of are less likely to reach LVRR. In contrast, myocardial inflammation detected by EMB predicts favourable remodelling in 12 months. Figure 1 Funding Acknowledgement Type of funding source: None


PLoS ONE ◽  
2019 ◽  
Vol 14 (7) ◽  
pp. e0214263 ◽  
Author(s):  
Gerhard Wess ◽  
Gerd Wallukat ◽  
Anna Fritscher ◽  
Niels-Peter Becker ◽  
Katrin Wenzel ◽  
...  

2003 ◽  
Vol 5 (1) ◽  
pp. 23-27 ◽  
Author(s):  
Andrea Vollmar ◽  
Philip R. Fox ◽  
Kathryn M. Meurs ◽  
Si-Kwang Liu

2016 ◽  
Vol 30 (3) ◽  
pp. 722-732 ◽  
Author(s):  
L. Klüser ◽  
P.J. Holler ◽  
J. Simak ◽  
G. Tater ◽  
P. Smets ◽  
...  

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