Abstract :
Cardiomyopathy, a disease of the heart muscle, is associated with cardiac dysfunction and results to severe heart
failure, arrhythmias, and death. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial
cardiomyopathy that is characterized by localized movement disorder in the wall of the right ventricle. Long QT
syndrome (LQTS) is typical cardiac arrhythmia that causes hereditary or acquired cardiac arrest in patients with long
QT interval and can be identified by electrocardiogram. It has been elucidated that R1193Q Polymorphism (R1193Q
GGG> CAG, rs41261344)) is a functional substitution in sodium voltage-gated channel alpha subunit 5 (SCN5A) gene,
and correlates with cardiac arrhythmia syndromes such as ARVC and LQTS. This case-control study was conducted to
consider the correlation between SCN5A rs41261344 and cardiac arrhythmia syndromes in Iranian population. In the
present study, 40 patients with LQTS, and 40 patients with ARVC, and 80 healthy subjects as controls were analyzed for
SCN5A rs41261344 by polymerase chain reaction- restriction fragment length polymorphism (RFLP-PCR) and 10
samples from each group were sequenced. The SCN5A rs41261344 C allele with a frequency of 100% was present in all
the patients and the healthy subjects. However, we did not observe SCN5A rs41261344 T allele in our enrolled subjects.
In fact, the frequency of T allele was calculated zero. Regard to very low frequency of the R1193Q polymorphism minor
allele, SCN5A rs41261344 T allele, in our cohort, it can be suggested that other mutations may be associated with
cardiac arrhythmia syndromes such as ARVC and LQTS in Iranian population.
Key Words: Cardiomyopathy, RFLP PCR, R1193Q polymorphism, SCN5A, ARVC, Long QT.
Keyword :
Cardiomyopathy, RFLP PCR, R1193Q polymorphism, SCN5A, ARVC, Long QT.