Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy

Abstract

A 24-year-old female with a diagnosis of primary carnitine deficiency, a rare inherited metabolic disorder predominantly described in the paediatric literature that causes cardiomyopathy, presented for evaluation after three months of nonadherence with prescribed carnitine therapy. Initial echocardiography demonstrated severe left ventricular dilation (104 ml/m2) (normal < 76 ml/m2) with moderate systolic dysfunction (ejection fraction 40%) and severe right ventricular dilation with mild systolic dysfunction. Carnitine replacement was commenced, and a cardiac magnetic resonance imaging (MRI) performed five days later demonstrated dramatic improvement in biventricular function with normalization of left and right ventricular systolic function. To our knowledge, this is only the second case describing the rapid reversal of cardiomyopathy in an adult patient with this rare condition.

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“…However, there has been a report of CD25+ pericardial mast cells producing a lifethreatening cardiac tamponade in a 59-year-old male with systemic mastocytosis for 30 years. 10 Patients with mast cell activation disorders have been reported to have left ventricular diastolic dysfunction. 10 Carnitine as a primary deficiency can be autosomal recessive, or a secondary deficiency due to kidney losses or nutritional deficiencies; it occurs through mutations in the CLC22A5 gene that result in a missing or defective OCTN2 protein.…”

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“…According to the evidence from children and adults, cardiomyopathy in PCD responds well to carnitine supplementation, and is rapidly reversible under treatment [12,13]. Wang et al reported a series of six children with PCD who all presented with severe left ventricular dysfunction.…”