- Clinical science
Long QT syndrome (LQTS) is a congenital or acquired heart condition in which the QT interval (i.e., ventricular depolarization and repolarization) is prolonged. Most patients with LQTS are asymptomatic, but some present with seizures, syncope, or even life-threatening arrhythmias and sudden death. Treatment depends on the underlying cause: Beta blockers and implantable cardioverter defibrillator (ICD) insertion are commonly used for congenital LQTS, whereas treatment of the underlying cause (drug, electrolyte abnormality, etc.) is the first-line therapy for acquired LQTS.
A prolonged QT interval may be congenital or acquired.
- Congenital LQTS arises from mutations in genes that code for ion channels within myocytes
- These mutations all cause ventricular action potentials to be prolonged, resulting in a lengthened QT interval on ECG. 
LQTS type 1
- Most common type of congenital LQTS
- Defect: loss of function mutation on the KCNQ1 gene located on chromosome 11p → defective slow delayed rectifier voltage-gated potassium channel
Drugs: Usually substances that block potassium outflow during the rapid repolarization phase 
- Antiarrhythmics: especially class IA and class III antiarrhythmics
- Psychiatric medications: especially tricyclic antidepressants and haloperidol
- Antibiotics (e.g., macrolides, fluoroquinolones)
- Antihistamines (e.g., diphenhydramine)
- Antimalarial medications
- Antiparkinson medications
- Electrolyte imbalances (e.g., hypokalemia, hypomagnesemia, hypocalcemia)
- Endocrine disorders (e.g., hypothyroidism)
- Nutritional deficiencies (e.g., anorexia nervosa)
- Ischemic stroke or intracranial hemorrhage
- Diagnosis of LQTS can be difficult because a slightly prolonged QT interval can be a normal variant (i.e., not congenital LQTS), and some patients with LQTS do not have a prolonged QT interval.
The primary finding in LQTS is a long QT interval corrected for heart rate (QTc) interval.
- Males: > 440 ms
- Females: > 460 ms
- Other diagnostic criteria take patient history and ECG findings into account.
|Family history of LQTS||1|
|Family history of sudden cardiac death||0.5|
|Syncope||1 (without stress) or 2 (with stress)|
|450– 459 ms||1|
|Torsade de pointes||2|
|Notched T wave in 3 leads||1|
- Genetic testing confirms the diagnosis of LQTS.
Both congenital and acquired LQTS
- Avoid activities that stress the heart
- Avoid cold temperatures (e.g., swimming, diving, skiing)
- Congenital LQTS
- Acquired LQTS: treat cause; (remove offending drug, fix electrolyte imbalances, etc.)
All treatment modalities aim to reduce the risk and severity of cardiac events!