Article Impact Level: HIGH Data Quality: STRONG Summary of European Heart Journal, ehac485. https://doi.org/10.1093/eurheartj/ehac485 Dr. Marit Kristine Smedsrud et al
Points
- The genetically based and persistent heart muscle disease is known as arrhythmogenic right ventricular cardiomyopathy (ARVC). It is characterized by a significant rise in ventricle tachycardia, simultaneous cardiovascular death, and the abnormal appearance of cells and tissues.
- Variations in the genes encoding cardiac desmosomal proteins are responsible for the disease’s autosomal dominant inheritance and its varying penetrance and expressiveness.
- Since its start is often noted in the third and fourth decennary of life, ARVC is thought to be the most pertinent disease to the young adult population. Although teenagers have been characterized as having ARVC disease, it is currently believed that children under ten do not typically have the condition.
Summary
According to the consensus-based updated 2010 Task Force Criteria, ARVC recognition is done by incorporating many pieces of information.
This trial aimed to investigate the prevalence of serious cardiovascular issues in children with arrhythmogenic right ventricular cardiomyopathy (ARVC) and the severity of ARVC in relatives of children. In addition, the phenotype of ARVC with childhood onset was characterized.
By Task Force Criteria 2010, electrocardiographic, structural, and arrhythmic parameters of consecutive pediatric ARVC sufferers and relatives with positive genotype and below age eighteen were monitored. A serious cardiac event is characterized as mortality, a heart transplant, or intense heart arrhythmias. Penetrance of ARVC disorder was defined as fulfilling specific ARVC criteria. Meeting specific ARVC criteria before age 12 is defined as a disease with a childhood beginning.
A pediatric ARVC sample found a significant prevalence of serious cardiovascular problems, with children under the age of 12 accounting for half of them. In pediatric relatives with genetic positivity, the ARVC penetrance was eighteen percent. These discoveries of a high-malignant phenotype in childhood-onset ARVC point to the need for the family screening of ARVC at a very young age rather than the currently recommended one.
It is postulated that existing screening recommendations lead to an underdiagnosis of childhood-onset disease and that the prevalence of ARVC in children is underrated. This could impact the timing of therapies focused on mitigating serious consequences.
Moreover, it has been demonstrated that ARVC is connected to ten to twenty-five percent of unexpected fatalities in infants. Children with ARVC are, nevertheless, neglected in research reports. Data on the occurrence of ARVC in children, the severity of the disease, and prevalence in pediatric relatives with positive genotypes is limited. The information available on clinical features of ARVC among children is also limited, so it can’t be the one to rely upon.
Link to the article: https://academic.oup.com/eurheartj/advance-article/doi/10.1093/eurheartj/ehac485/6676380
References Smedsrud, M. K., Chivulescu, M., Forså, M. I., Castrini, I., Aabel, E. W., Rootwelt-Norberg, C., Bogsrud, M. P., Edvardsen, T., Hasselberg, N. E., Früh, A., & Haugaa, K. H. (2022). Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy. European Heart Journal, ehac485. https://doi.org/10.1093/eurheartj/ehac485
