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The congenital long QT syndrome
Preeti Shanbag1, Preetha T Govindakumar, Mamta Vaidya
1Pediatric Intensive Care Unit (PICU), Department of Pediatrics, Lokmanya Tilak Municipal Medical College & General Hospital, Sion, Mumbai, India. pshanbag@yahoo.com
Indian Journal of Pediatrics
|April 4, 2002
Summary
Congenital long QT syndrome (LQTS) screening identified affected family members. Early detection and treatment, including pacemakers for heart block, are crucial for managing this genetic heart disorder.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Long QT syndrome (LQTS) is a cardiac electrical disorder caused by ion channel dysfunction, leading to repolarization abnormalities.
- Inherited LQTS results from genetic mutations affecting ion channel function, increasing the risk of dangerous arrhythmias like torsade de pointes.
- LQTS can cause syncope and sudden cardiac death, necessitating thorough diagnostic evaluation.
Observation:
- Three pediatric patients with congenital LQTS were evaluated, one with concurrent 2:1 atrioventricular block.
- Family screening using electrocardiography was performed on parents and siblings of affected children.
- Echocardiography and audiometry were conducted to exclude structural heart abnormalities and assess for deafness, respectively.
Findings:
- LQTS was diagnosed in four additional family members through screening.
- Propranolol treatment was initiated for all identified LQTS cases.
- The child with heart block received a pacemaker, and LQTS should be considered in patients with syncope, especially if associated with deafness or a family history of sudden death.
Implications:
- Corrected QT interval assessment is vital in all children diagnosed with heart block due to the frequent association with LQTS.
- Early identification and management of LQTS can mitigate risks of syncope and sudden death.
- Genetic screening and timely intervention are essential for families with a history of LQTS or sudden infant death.