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Interventional Cardiology Journal
ISSN: 2471-8157
2 n d E d i t i o n o f E u r o S c i C o n C o n g r e s s o n
Heart Disease and
Interventional Cardiology
F e b r u a r y 2 5 - 2 6 , 2 0 1 9
P a r i s , F r a n c e
Heart and World Cardiology 2019
Introduction:The common life threatening cardiac arrhythmias, Long QT (LQTS
type 1-13) and Brugada (BrS type 1-12) present with syncope/palpitations/
seizures/aborted cardiac arrest. They have incomplete penetrance and
variable expressivity. The three common genes (KCNQ1, KCNH2 and SCN5A)
account for 75% of all LQTS cases and SCN5A gene in BrS accounts for 25%
of all cases.
Aim:To identify the causative variation in the associated genes responsible for
causing cardiac channelopathies in Indian patients.
Materials & Methods: Hundred patients who fulfilled the inclusion criteria of
the study were enrolled. Mutation analysis was performed in most probable
candidate gene by direct sequencing using primers flanking exon-intron
boundaries. If a mutation was not identified, NGS was performed to identify
mutations in other cardiac genes in patients. Parents and siblings were
screened if a mutation was identified in the proband. Novel mutations were
evaluated for pathogenicity using ACMG guidelines, bioinformatics and
molecular modelling softwares.
Results: Mutations was identified in 23 of 100 (23%) patients by Sanger
sequencing, 20 had LQTS and 3 had BrS. Among the LQT syndromes, mutations
were identified in 17 in KCNQ1 (LQTS1), one in KCNH2 (LQTS2) and two in
SCN5A (LQTS3). Among the LQTS1 patients, ten were identified with biallelic
mutations. The three BrS patients had mutations in SCN5A (BrS1). Ten of
23 mutations were novel. NGS identified mutation in 22 (49%) of 45 patients
negative for mutations by Sanger and with significant family history and/or
strong clinical indication. Of which, 20 had LQTS and two had BrS. Out of these
46 mutations, 18 were novel. Cascade screening identified mutations in two
symptomatic and forty asymptomatic family members. Genetic counseling
was provided to the proband and family members.
Conclusion: Genotyping is important for confirming type of LQTS/BrS, which
has implications for management, cascade screening and risk assessment.
Biography
Bijal Vyas Bhatia has completed her MS in Medical Genetics
from Virginia Commonwealth University, US and her PhD in
Cardiac Genetics from Indraprastha University affiliated to
Institute of Medical Genetics and Genomics, Sir Ganga Ram
Hospital. She has been working in the field of Cardiac Genetics
with specialization in Long QT and Brugada syndromes for last
five years. She has written original research articles and review
papers based on these syndromes. Her study was the first
cohort study on cardiac arrhythmias in Indian patients that lead
to establishment of genetic testing for arrhythmias in India.
The utility of genetic testing in cardiac arrhythmias
Bijal Vyas Bhatia, Ratna D Puri and Ishwar C Verma
Sir Ganga Ram Hospital, India
Bijal Vyas Bhatia et al., Interv Cardiol J 2019, Volume: 5
DOI: 10.21767/2471-8157-C1-005