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Familial hypertrophic cardiomyopathy and muscle carnitine deficiency
J Bautista1, E Rafel, A Martinez
1Department of Neurology, Hospital Virgen del Rocio, Sevilla, Spain.
Insights
Carnitine deficiency can cause hypertrophic cardiomyopathy in families. Treatment with L-carnitine and a special diet improved cardiac symptoms and echocardiographic findings in affected patients.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Hypertrophic cardiomyopathy (HCM) can have genetic underpinnings.
- Lipid accumulation in muscle suggests a metabolic disorder.
Purpose of the Study:
- To investigate the cause of HCM in a multi-generational family.
- To evaluate the efficacy of L-carnitine treatment for carnitine deficiency-induced cardiomyopathy.
Main Methods:
- Clinical evaluation including neurological exams and serum creatine kinase.
- Skeletal muscle biopsy to assess for lipid accumulation and carnitine levels.
- Echocardiography to assess cardiac function before and after treatment.
Main Results:
- Family members presented with HCM across three generations.
- Normal neurological and muscle strength tests ruled out primary myopathy.
- Skeletal muscle biopsy revealed abnormal lipid accumulation and carnitine deficiency.
- Three patients showed improvement in cardiac symptoms and echocardiographic findings after L-carnitine treatment and a specific diet.
Conclusions:
- Carnitine deficiency is a potential cause of inherited hypertrophic cardiomyopathy.
- L-carnitine supplementation and dietary modification can be effective in managing carnitine deficiency-related cardiac dysfunction.
Abstract:
Five members of the same family, along three generations, presented with hypertrophic cardiomyopathy. Neurological examination, muscle strength, electromyography, and serum creatine kinase were normal. Skeletal muscle biopsy showed abnormal lipid accumulation and carnitine deficiency. In three patients the cardiac symptoms and echocardiographic findings improved after treatment with L-carnitine, 3-4 g daily, and a long-chain fatty-acid-free diet.