RYR2 p.R169L mutation and left ventricular hypertrophy in a child with emotion-triggered sudden death.
Utkarsh KohliLisa KuntzHemal M NayakPublished in: Cardiology in the young (2020)
Catecholaminergic 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.
Keyphrases
- left ventricular
- autism spectrum disorder
- depressive symptoms
- heart failure
- hypertrophic cardiomyopathy
- cardiac resynchronization therapy
- acute myocardial infarction
- mental health
- borderline personality disorder
- mitral valve
- left atrial
- aortic stenosis
- nitric oxide
- risk factors
- congenital heart disease
- acute coronary syndrome
- transcatheter aortic valve replacement
- case control
- percutaneous coronary intervention