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A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

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Published on: July 1, 2020

Three sisters, one pathway.

Logan D Bittinger¹, Anthony S Tang, Richard A Leather

¹Department of Cardiology, Royal Jubilee Hospital, and Island Medical Program, University of British Columbia, Victoria, British Columbia, Canada.

The Canadian Journal of Cardiology

|November 29, 2011

Summary

This summary is machine-generated.

Three sisters experienced symptomatic atrioventricular reciprocating tachycardia due to identical accessory pathways. This rare familial occurrence suggests a genetic basis for accessory pathway formation, treatable with radiofrequency ablation.

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Area of Science:

Cardiology
Genetics
Electrophysiology

Background:

Atrioventricular reciprocating tachycardia (AVRT) is a common supraventricular tachycardia.
Accessory pathways (APs) are aberrant electrical connections between the atria and ventricles.
While familial cases are rare, the genetic basis of AVRT and AP formation is not fully understood.

Observation:

A family with three sisters presented with symptomatic AVRT over a 15-year period.
Electrophysiological studies revealed a consistently located left lateral accessory pathway in all three sisters.
All sisters underwent successful radiofrequency ablation for their condition.

Findings:

This case represents the first reported instance of an entire family presenting with symptomatic AVRT.
The identically located accessory pathways in affected siblings strongly suggest a genetic etiology.
Radiofrequency ablation proved to be a highly effective treatment modality.

Implications:

The familial clustering of AVRT with specific accessory pathway locations supports a genetic contribution to cardiac development.
Further research into the genetic underpinnings of accessory pathway formation is warranted.
Understanding the genetic basis may lead to improved risk stratification and targeted therapies for familial arrhythmias.