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Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.

ABSTRACT: OBJECTIVE:To determine the extent to which genetic variation in the potassium channel gene KCNQ1 causes atrial fibrillation (AF). DESIGN:Case-control study. SETTING:National University Hospital, Singapore. PATIENTS:Han Chinese patients (n=111) with lone AF (onset <60?years and lacking risk factors) and 265 Han Chinese controls. INTERVENTIONS:Blood draw, 12-lead electrocardiogram and transthoracic echocardiogram were performed on patients with AF at enrolment. MAIN OUTCOME MEASURES:DNA sequence variants in the coding region and exon-intron boundaries of KCNQ1 as detected by direct sequencing. RESULTS:Four previously reported coding variants were identified: I145I, S546S, P448R and G643S. An additional 19 non-coding variants were identified, nine of which are newly reported. None were predicted to create a cryptic splicing site. The allele frequencies of the two non-synonymous variants did not differ significantly in the AF cases compared with 265 Han Chinese controls (P448R: 10.8% in cases vs 8.6% in controls, p=0.41; G643S: 1.4% in cases vs 0.8% in controls, p=0.43). CONCLUSIONS:Comprehensive mutation scanning of KCNQ1 did not identify novel pathogenic mutations or risk-conferring polymorphisms. As in Caucasians, genetic variation in KCNQ1 is not a common cause of AF in Han Chinese. Routine genetic testing of KCNQ1 for AF is, therefore, not warranted.

SUBMITTER: Chen LY

PROVIDER: S-EPMC4898533 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.

Chen Lin Y LY Goh June M JM Wong Raymond C RC Hsu Li-Fern LF Foo David D Benditt David G DG Ling Lieng H LH Heng Chew K CK

Heart Asia 20101108 1

<h4>Objective</h4>To determine the extent to which genetic variation in the potassium channel gene KCNQ1 causes atrial fibrillation (AF).<h4>Design</h4>Case-control study.<h4>Setting</h4>National University Hospital, Singapore.<h4>Patients</h4>Han Chinese patients (n=111) with lone AF (onset <60 years and lacking risk factors) and 265 Han Chinese controls.<h4>Interventions</h4>Blood draw, 12-lead electrocardiogram and transthoracic echocardiogram were performed on patients with AF at enrolment.< ...[more]

PMID: 27325960

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Project description:RationaleAtrial fibrillation (AF) is encountered rarely in pregnancy. Management of maternal AF is challenging as it poses a threat to both maternal and fetal well-being.Patient concernsWe report a case of a 35 weeks pregnant woman who presented in emergency with sudden-onset palpitations and mild shortness of breath with no personal/family history of cardiac diseases.DiagnosesPatient's pulse was irregularly irregular with an average rate of 179 beats per minute. The obstetric examination was normal.DiagnosisHigh-sensitive cardiac troponin T (hs-cTnT) was elevated. The 12 lead electrocardiogram (ECG) confirmed AF. The obstetric ultrasound, electronic fetal heart rate (EFHR) trace, and maternal echocardiography were normal.InterventionsThe patient was admitted under joint cardiology and obstetric care and monitored with continuous telemetry. She was commenced on a therapeutic dose of low-molecular weight heparin (LMWH) and intravenous fluid. She received a single 200 Joule synchronized direct current (DC) shock under general anesthesia in operation theater, which reverted the rhythm back to normal. EFHR monitoring was normal pre- and post-DC cardioversion. We acknowledge the unwise use of therapeutic dose of LMWH before DC cardioversion (DCCV) because of a potential need for emergency cesarean delivery for maternal and/or fetal compromise.OutcomeThe patient remained well and in sinus rhythm after cardioversion. She was discharged home the following day on Flecainide (anti-arrhythmic) and therapeutic dose of low molecular weight heparin (LMWH) and followed up in outpatient clinics frequently. She had a baby at term and received prophylactic LMWH for 10 days post-cesarean. She was discharged from cardiology clinic when she was 10 weeks postnatal, and Flecainide was discontinued.LessonsWe are reporting this case because of the rarity of the condition and successful use of DCCV for treating maternal AF. High-sensitive cardiac troponin T (hs-cTnT) level is a useful laboratory indicator to gauge the severity of AF in pregnancy. We emphasize to make the arrangements for EFHR monitoring and potential cesarean delivery and advocate cautious use of thromboprophylaxis while planning for electrical cardioversion (ECV) for maternal AF.

Dataset Information

Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.

Publications

Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.

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