ABCC9 gene
In our study, the clinical diagnosis of patient R44 with mutation
c.3589C>T in ABCC9 gene is Brugada (BrS) syndrome
and short QT syndrome (SQTS). The variation, c.3589C>T, has
been reported in Hu et al. (Hu et al., 2014 ), which is the first
to identify ABCC9 as a susceptibility gene for early
repolarization syndrome (ERS) and BrS. BrS is an inherited cardiac
disease leading to ventricular fibrillation and an increased risk of
sudden cardiac death (SCD) in structurally normal hearts
(Sarquella-Brugada et al., 2016 ; Sieira et al., 2016 ).
Genetic characterization of the Brs syndrome might not only be able to
better establish the diagnostic ECG pattern (ST elevation, sinus node
dysfunction, or conduction abnormalities) but also to clarify the
overlap syndromes (Sieira et al., 2017 ). SQTS is a rare,
life-threatening, inherited heart disease characterized by ventricular
tachyarrhythmias leading to syncope and sudden cardiac death
(Bjerregaard et al., 2018 ; El-Battrawy et al., 2018 ;Campuzano et al., 2018 ). Genetic testing is essential in
diagnosing the disease (Bjerregaard et al., 2018 ). Clinical
manifestations associated with SQTS may range from asymptomatic,
palpitations, syncope, dizziness, atrial fibrillation, ventricular
arrhythmias, and SCD (El-Battrawy et al., 2018 ; Campuzano
et al., 2018 ). In a published study (Bienengraeber et al.,
2004 ), researchers identified two mutations in ABCC9 , encoding
the regulatory SUR2A subunit of the cardiac KATPchannel, by scanning of genomic DNA from individuals with heart failure
and rhythm disturbances due to idiopathic dilated cardiomyopathy.