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Ventricular Fibrillation Caused by Primary Carnitine Deficiency.
Chun-Chi Lu1, Chia-Wen Chang2, Yen-Hung Wu2
1Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
The Journal of Emergency Medicine
|May 26, 2020
Summary
Primary carnitine deficiency (PCD) is a rare genetic disorder that can cause sudden death. Prompt diagnosis and carnitine supplementation are crucial for emergency physicians to prevent recurrence after cardiac arrest.
Area of Science:
- Cardiology
- Genetics
- Emergency Medicine
Background:
- Primary carnitine deficiency (PCD) is a rare genetic disorder with potentially fatal consequences if untreated.
- PCD can manifest with severe symptoms including cardiac arrhythmias, hypoglycemia, and sudden death.
Observation:
- A 25-year-old woman with known PCD experienced sudden collapse and cardiac arrest due to ventricular fibrillation.
- Successful resuscitation was achieved after 14 minutes of CPR and defibrillation, with subsequent development of atrial fibrillation and sinus tachycardia with ECG changes.
Findings:
- The patient's low plasma carnitine level confirmed PCD.
- Cardiac imaging revealed no structural abnormalities, ruling out cardiomyopathy as the primary cause.
- Carnitine supplementation rapidly normalized plasma levels and resolved ventricular dysrhythmias.
Implications:
- Emergency physicians must consider PCD in cases of unexplained sudden cardiac arrest, especially in young individuals.
- Detailed patient history and prompt biochemical testing are vital for diagnosing PCD in emergency settings.
- Timely carnitine supplementation can prevent recurrent life-threatening cardiac events in PCD patients.
Keywords:
QT interval prolongedcarnitine deficiencydysrhythmiasudden cardiac deathventricular fibrillationMore Related Videos
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