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Left ventricular noncompaction in primary systemic carnitine deficiency: A rare association
Deepanjan Bhattacharya1, Deepa Sasikumar1, Harikrishnan Kurup1
1Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Annals of Pediatric Cardiology
|May 9, 2022
Summary
Primary systemic carnitine deficiency can cause left ventricular noncompaction (LVNC), a rare heart muscle condition. This case highlights a crucial link between metabolic disorders and cardiomyopathy phenotypes in children.
Area of Science:
- Cardiology
- Metabolic Disorders
- Genetics
Background:
- Left ventricular noncompaction (LVNC) is a rare congenital cardiomyopathy.
- Dilated cardiomyopathy is a common cardiac condition with various etiologies.
Observation:
- A pediatric patient presented with clinical features suggestive of heart dysfunction.
- Diagnostic workup revealed findings consistent with left ventricular noncompaction.
Findings:
- The child was diagnosed with primary systemic carnitine deficiency, an inherited metabolic disorder.
- The presence of left ventricular noncompaction was directly associated with the carnitine deficiency.
Implications:
- This case underscores the importance of considering metabolic investigations in pediatric cardiomyopathy.
- Carnitine deficiency should be evaluated in children with unexplained left ventricular noncompaction.
- Early diagnosis and management of carnitine deficiency may prevent or mitigate cardiac complications.
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