scholarly journals Myocardial Metabolism in Endurance Exercise-Induced Left Ventricular Hypertrophy

2018 ◽  
Vol 11 (6) ◽  
pp. 928-930
Author(s):  
Meagan M. Wasfy ◽  
Courtney Foster Bibbo ◽  
Marcel Brown ◽  
James R. DeLuca ◽  
Francis Wang ◽  
...  
2020 ◽  
Vol 30 (7) ◽  
pp. 1039-1042
Author(s):  
Utkarsh Kohli ◽  
Lisa Kuntz ◽  
Hemal M. Nayak

AbstractCatecholaminergic polymorphic ventricular tachycardia is a rare (prevalence: 1/10,000) channelopathy characterised by exercise-induced or emotion-triggered ventricular arrhythmias. There is an overall paucity of genotype-phenotype correlation studies in patients with catecholaminergic polymorphic ventricular tachycardia, and in vitro and in vivo effects of individual mutations have not been well characterised. We report an 8-year-old child who carried a mutation in the coding exon 8 of RYR2 (p.R169L) and presented with emotion-triggered sudden cardiac death. He was also found to have left ventricular hypertrophy, a combination which has not been reported before. We discuss the association between genetic variation in RYR2, particularly mutations causing replacement of arginine at position 169 of RYR2 and structural cardiac abnormalities.


2016 ◽  
Vol 67 (13) ◽  
pp. 1639
Author(s):  
Meagan Murphy Wasfy ◽  
James R. DeLuca ◽  
Courtney Foster ◽  
Rory Weiner ◽  
Gregory Lewis ◽  
...  

1990 ◽  
Vol 66 (2) ◽  
pp. 329-343 ◽  
Author(s):  
L Hittinger ◽  
R P Shannon ◽  
S Kohin ◽  
W T Manders ◽  
P Kelly ◽  
...  

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