Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing.

ABSTRACT:

Background

The advent of clinical next generation sequencing is rapidly changing the landscape of rare disease medicine. Molecular diagnosis of long QT syndrome (LQTS) can affect clinical management, including risk stratification and selection of pharmacotherapy on the basis of the type of ion channel affected, but results from the current gene panel testing requires 4-16 weeks before return to clinicians.

Objective

A term female infant presented with 2:1 atrioventricular block and ventricular arrhythmias consistent with perinatal LQTS, requiring aggressive treatment including epicardial pacemaker and cardioverter-defibrillator implantation and sympathectomy on day of life 2. We sought to provide a rapid molecular diagnosis for the optimization of treatment strategies.

Me

SUBMITTER: Priest JR 

PROVIDER: S-EPMC4379486 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature