Pediatrics
A 14 year old boy came in for pre-sport screening he had systolic murmur, his dad has hypertrophic…
A 14 year old boy came in for pre-sport screening he had systolic murmur, his dad has hypertrophic cardiomyopathy and died at 40 years old. ECG shows long QT.
الشرح
Core Concept: Long QT syndrome (LQTS) and Hypertrophic Cardiomyopathy (HCM) are inherited conditions that predispose individuals to sudden cardiac death (SCD) during exertion. Beta-blockers and activity restriction are mainstays of therapy.
Clinical Presentation:
- Syncope, seizures, or sudden cardiac arrest during exercise or emotional stress.
- Family history of sudden cardiac death at a young age.
Diagnosis:
- First-line tool: 12-lead ECG (prolonged QTc interval) and Echocardiography (for HCM).
- Gold standard: Genetic testing to identify specific channelopathy or sarcomere mutations.
Management:
- Acute: Avoidance of QT-prolonging drugs and correction of electrolyte abnormalities.
- Long-term/Definitive: Beta-blockers (e.g., nadolol, propranolol) to blunt sympathetic surges. Restriction from competitive and high-intensity sports; only low-effort recreational activities are permitted. ICD placement if high risk.