Long QT Syndrome Clinical Presentation

Updated: Dec 31, 2015
  • Author: Ali A Sovari, MD, FACP, FACC; Chief Editor: Jeffrey N Rottman, MD  more...
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Presentation

History

Long QT syndrome (LQTS) is usually diagnosed after a person has a cardiac event (eg, syncope, cardiac arrest). In some situations, LQTS is diagnosed after a family member suddenly dies. In some individuals, LQTS is diagnosed because an ECG shows QT prolongation.

A history of cardiac events is the most typical clinical presentation in patients with LQTS.

Exercise, swimming, or emotion may trigger events, but they may also occur during night sleep.

Triggering events are somewhat different by genotype. Patients with LQT1 usually have cardiac events preceded by exercise or swimming. Sudden exposure of the patient's face to cold water is thought to elicit a vagotonic reflex. Patients with LQT2 may have arrhythmic events after an emotional event, exercise, or exposure to auditory stimuli (eg, door bells, telephone ring). Patients with LQT3 usually have events during night sleep.

Obtain information about hearing loss (deficit) in a patient and his or her family members to determine a possibility of Jervell and Lang-Nielsen (JLN) syndrome.

Information about what medication the patient has taken is critical for the differential diagnosis of congenital LQTS and of drug-induced QT prolongation (which also may have genetic background). The Arizona Center for Education and Research on Therapeutics (ArizonaCERT) provides lists of Drugs that Prolong the QT Interval and/or Induce Torsades de Pointes Ventricular Arrhythmia.

A family history of cardiac arrest and sudden death, especially at a young age, may suggest a congenital (familial) form of LQTS.

Analysis of repolarization duration (QTc) and morphology on the patient's ECG and on ECGs of the patient's relatives frequently leads to the proper diagnosis.

Next:

Physical

 

Table. (Open Table in a new window)

Findings on physical examination usually do not indicate a diagnosis of long QT syndrome (LQTS), though some patients may present with excessive bradycardia for their age, and some patients may have hearing loss (congenital deafness), indicating the possibility of JLN syndrome. Skeletal abnormalities, such as short stature and scoliosis are seen in LQT7 (Andersen syndrome), and congenital heart diseases, cognitive and behavioral problems, musculoskeletal diseases, and immune dysfunction may be seen in those with LQT8 (Timothy syndrome). Also perform the physical examination to exclude other potential reasons for arrhythmic and syncopal events in otherwise healthy people (eg, heart murmurs caused by hypertrophic cardiomyopathy, valvular defects).    
     
Hinterseer et al found that increased short-term variability of QT interval, ie, STV(QT), in symptomatic patients with congenital long-QT syndrome (LQTS) could be a useful noninvasive additive marker for diagnostic screening to bridge the gap while waiting for results of genetic testing. This study is the first in humans to observe this association. [9]    
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