Diagnosing the Mechanism of Supraventricular Tachycardia

Marchlinski, Francis E.

doi:10.1016/j.jacc.2009.03.035

Cited by 9 publications

(2 citation statements)

References 15 publications

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“…It is the most common form of regular paroxysmal SVT [2]. Women are affected twice as frequently as men, and the fact that this arrhythmia is often diagnosed in women under 40 years of age suggests a genetic component of the disease [3,4]. The symptoms of SVT are typically related to the sudden occurrence of tachycardia, with palpitations being the most common symptom, possibly accompanied by chest discomfort, dyspnoea, anxiety, and light headedness.…”

Section: Introductionmentioning

confidence: 99%

Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes

et al. 2018

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Atrioventricular nodal reentry tachycardia (AVNRT) is the most common form of regular paroxysmal supraventricular tachycardia. This arrhythmia affects women twice as frequently as men, and is often diagnosed in patients <40 years of age. Familial clustering, early onset of symptoms and lack of structural anomaly indicate involvement of genetic factors in AVNRT pathophysiology. We hypothesized that AVNRT patients have a high prevalence of variants in genes that are highly expressed in the atrioventricular conduction axis of the heart and potentially involved in arrhythmic diseases. Next-generation sequencing of 67 genes was applied to the DNA profile of 298 AVNRT patients and 10 AVNRT family members using HaloPlex Target Enrichment System. In total, we identified 229 variants in 60 genes; 215 missenses, four frame shifts, four codon deletions, three missense and splice sites, two stop-gain variants, and one start-lost variant. Sixty-five of these were not present in the Exome Aggregation Consortium (ExAC) database. Furthermore, we report two AVNRT families with co-segregating variants. Seventy-five of 284 AVNRT patients (26.4%) and three family members to different AVNRT probands had one or more variants in genes affecting the sodium handling. Fifty-four out of 284 AVNRT patients (19.0%) had variants in genes affecting the calcium handling of the heart. We furthermore find a large proportion of variants in the HCN1-4 genes. We did not detect a significant enrichment of rare variants in the tested genes. This could be an indication that AVNRT might be an electrical arrhythmic disease with abnormal sodium and calcium handling.

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Section: Introductionmentioning

confidence: 99%

Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes

et al. 2018

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“…There is a link between AVNRT and outflow tract ventricular dysrhythmias that may be caused by an inflammatory process of the epicardium/myocardium. Clinical clues to correct electrocardiographic diagnosis of AVNRT include older age, female gender, and the patient feeling neck palpitations (12).…”

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confidence: 99%