Long QT syndrome

Also known as: LQTS; Romano–Ward syndrome (autosomal dominant form)

Inherited channelopathy with prolonged ventricular repolarization (long QT interval) predisposing to torsades de pointes.

Medical specialty: Cardiology
Subspecialty: Cardiology / Cardiac electrophysiology
Sex & age distribution: Male: affected, higher cardiac event risk in childhood; Female: affected, higher risk from adolescence and postpartum; Children: yes, events often in childhood or adolescence
Gene(s) involved: AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN

Etiology & mechanism

Loss of function of repolarizing potassium currents or gain of function of depolarizing sodium or calcium currents prolongs the action potential.

Gene(s) involved (18)

AKAP9ANK2CACNA1CCALM1CALM2CALM3CAV3KCNE1KCNE2KCNE3KCNH2KCNJ2KCNJ5KCNQ1SCN4BSCN5ASNTA1TRDN

Symptoms & signs (10)

asymptomatic carriersevents during sleep or rest (lqt3)events with exercise or swimming (lqt1)events with sudden noise (lqt2)palpitationsprolonged qt intervalseizure-like episodessudden cardiac deathsyncopetorsades de pointes

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