Long QT Syndrome

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Table of content
• What is LQTS?
• Inheritance of LQTS
• Genes and mutations
• Types of LQTS
• Treatment

•
 LQTS
• The soundwave generated by the heart beat is
divided into 'intervals' given the letters P, Q, R,
S&T
In some people, it takes longer for the
electrical signal to activate and inactivate the
lower chambers of their heart (the ventricles);
described as a longer Q-T interval on the ECG
they have long QT syndrome (LQTS )
itle
 The long QT syndrome (LQTS) is a rare inborn
heart condition in which delayed repolarization
of the heart following a heartbeat increases the
risk of episodes of Torsade de Pointe (TDP, a
form of irregular heartbeat that orriginates from
the ventricles). These episodes may lead to
palpitations, fainting and sudden death due to
ventricular fibrilation. Episodes may be
provoked by various stimuli, depending on the
subtype of the condition
 Inheritance
• LQTS can arise from mutation of one of several
genes.These mutations tend to prolong the duration
of the Ventricular Action Potential (APD), thus
lengthening the QT interval. LQTS can be inherited in
an autosomal dominant or an autosomal recessive
fashion. The autosomal recessive forms of LQTS tend
to have a more severe phenotype, with some
variants having associated syndactyly (LQT8) or
congenital neural deafness (LQT1).
Inheritannce
 LQTS is a genetically heterogeneous
disorder that has been seen in all
ethnicities. Mutations or
deletions/duplications in more than 12
genes have been associated with LQTS,
leading either to decreased
repolarizing potassium currents or to
inappropriate entry of sodium or
calcium ions into cardiac myocytes due
to defective sodium or calcium ion
channels. As shown in Table 1, the vast
majority of individuals with heritable
LQTS have mutations in ion channel
genes.
 Treatment

• Beta-blockers are effective for most children and

adults. For children and adults who do not respond
to drugs, a pacemaker or a combination pacemaker-
internal defibrillator may be tried. An internal
defibrillator can shock the heart, reviving the person,
whenever the heart develops a lethal rhythm
abnormality. Occasionally, as an alternative, a nerve
in the neck is cut in a procedure called
cervicothoracic sympathectomy. Cutting this nerve
can help prevent the fast heart rate that causes
sudden death. For some children, restriction from
competitive sports may be recommended.