Compound Heterozygous Mutations in the SCN5A-encoded Nav1.5 Cardiac Sodium Channel Resulting in Atrial Standstill and His-Purkinje System Disease
Overview
Affiliations
An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill. Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination.
Villarreal-Molina T, Garcia-Ordonez G, Reyes-Quintero A, Dominguez-Perez M, Jacobo-Albavera L, Nava S Genes (Basel). 2022; 13(1).
PMID: 35052356 PMC: 8774384. DOI: 10.3390/genes13010016.
Genetic Complexity of Sinoatrial Node Dysfunction.
Wallace M, El Refaey M, Mesirca P, Hund T, Mangoni M, Mohler P Front Genet. 2021; 12:654925.
PMID: 33868385 PMC: 8047474. DOI: 10.3389/fgene.2021.654925.
Compound Heterozygous Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report.
Nijak A, Labro A, De Wilde H, Dewals W, Peigneur S, Tytgat J Front Cardiovasc Med. 2020; 7:117.
PMID: 32850980 PMC: 7396896. DOI: 10.3389/fcvm.2020.00117.
Cheng L, Li X, Zhao L, Wang Z, Zhang J, Liang Z Int J Genomics. 2020; 2020:2415850.
PMID: 32211440 PMC: 7061116. DOI: 10.1155/2020/2415850.
Atrial standstill presenting as cerebral infarction in a 7-year-old girl.
Ahnfeldt A, de Knegt V, Reimers J, Borresen M SAGE Open Med Case Rep. 2019; 7:2050313X19827735.
PMID: 30783526 PMC: 6366293. DOI: 10.1177/2050313X19827735.