scholarly journals An Overview of Diagnosis and Management Strategies for Long QT Syndrome

2017 ◽  
Vol 8 (6) ◽  
pp. 2750-2757 ◽  
Author(s):  
Susan Etheridge ◽  
Mitchell Cohen
Keyword(s):  
Long Qt Syndrome ◽  
Management Strategies ◽  
Long Qt ◽  
Diagnosis And Management ◽  
Qt Syndrome

scholarly journals Erratum to: Prenatal Diagnosis and Management of Fetal Long QT Syndrome

2009 ◽  
Vol 30 (8) ◽  
pp. 1197-1197
Author(s):  
Viktor Tomek ◽  
Jan Skovranek ◽  
Roman A. Gebauer
Keyword(s):  
Prenatal Diagnosis ◽  
Long Qt Syndrome ◽  
Long Qt ◽  
Diagnosis And Management ◽  
Qt Syndrome

Prenatal Diagnosis and Management of Fetal Long QT Syndrome

2008 ◽  
Vol 30 (2) ◽  
pp. 194-196 ◽  
Author(s):  
Viktor Tomek ◽  
Jan Skovranek ◽  
Roman A. Gebauer
Keyword(s):  
Prenatal Diagnosis ◽  
Long Qt Syndrome ◽  
Long Qt ◽  
Diagnosis And Management ◽  
Qt Syndrome

scholarly journals The diagnosis and management of long QT syndrome based on fetal echocardiography

2017 ◽  
Vol 3 (9) ◽  
pp. 407-410 ◽  
Author(s):  
Benjamin A. Blais ◽  
Gary Satou ◽  
Mark S. Sklansky ◽  
Himani Madnawat ◽  
Jeremy P. Moore
Keyword(s):  
Long Qt Syndrome ◽  
Fetal Echocardiography ◽  
Long Qt ◽  
Diagnosis And Management ◽  
Qt Syndrome

scholarly journals The Role of the Epinephrine Test in the Diagnosis and Management of Children Suspected of Having Congenital Long QT Syndrome

2009 ◽  
Vol 31 (4) ◽  
pp. 462-468 ◽  
Author(s):  
Sally-Ann B. Clur ◽  
Priya Chockalingam ◽  
Luc H. Filippini ◽  
Ari P. Widyanti ◽  
Marc Van Cruijsen ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Long Qt ◽  
Diagnosis And Management ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

scholarly journals Update on the Diagnosis and Management of Familial Long QT Syndrome

2016 ◽  
Vol 25 (8) ◽  
pp. 769-776 ◽  
Author(s):  
Kathryn E Waddell-Smith ◽  
Jonathan R Skinner
Keyword(s):  
Long Qt Syndrome ◽  
Long Qt ◽  
Diagnosis And Management ◽  
Qt Syndrome

scholarly journals Clinical Implications and Gender Differences of KCNQ1 p.Gly168Arg Pathogenic Variant in Long QT Syndrome

2020 ◽  
Vol 9 (12) ◽  
pp. 3846
Author(s):  
Rebeca Lorca ◽  
Alejandro Junco-Vicente ◽  
Maria Martin-Fernandez ◽  
Isaac Pascual ◽  
Andrea Aparicio ◽  
...  
Keyword(s):  
Gender Differences ◽  
Long Qt Syndrome ◽  
Management Strategies ◽  
Pathogenic Variant ◽  
Long Qt ◽  
Pathogenic Variants ◽  
Life Threatening ◽  
Qt Syndrome ◽  
And Gender ◽  
Index Cases

Background: Long QT syndrome (LQTS) is an inheritable arrhythmogenic disorder associated with life-threatening arrhythmic events (LAEs). In general, patients with LQTS2 (KCNH2) and LQTS3 (SCN5A) are considered to be a greater risk of LAEs than LQTS1 (KCNQ1) patients. Gender differences are also important. Series analyzing families with the same pathogenic variants may help in the progress of elaborating strong specific genotype-phenotype management strategies. In this manuscript, we describe the phenotype of seven unrelated families, carriers of the KCNQ1 G168R pathogenic variant. Methods: we identified all consecutive index cases referred for genetic testing with LQTS diagnosis carriers of KCNQ1 G168R variant. Genetic and clinical screening for all available relatives was performed. Results: we evaluated seven unrelated families, with a total 34 KCNQ1 G168R carriers (two obligated carriers died without available EKGs to evaluate the phenotype). All index cases but one were women and three of them presented with aborted sudden cardiac death (SCD) or syncope. The presence of sudden death in these families is notable, with a total of nine unexplained sudden deaths and four aborted SCD. Phenotype penetrance was 100% in women and 37.5% in men. Conclusions: KCNQ1 G168R is a pathogenic variant, with a high penetrance among women and mild penetrance among men. Risk for LAEs in this variant seems not negligible, especially among woman, and risk stratification should always be carefully evaluated.

Sign in / Sign up

Export Citation Format

Share Document