Increased susceptibility to heart failure in heterozygous carrier mice of carnitine transporter gene mutation

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Systemic carnitine deficiency (SCD) is an autosomal recessive disorder caused by a decreased renal re-absorption of carnitine due to mutations of the carnitine transporter OCTN2 gene, and hypertrophic cardiomyopathy is a common clinical feature of homozygotes. Although heterozygotes of SCD are generally healthy with normal cardiac performance, heterozygotes may be at risk for cardiomyopathy in the presence of additional risk factors such as hypertension. Eleven-week-old heterozygous mutant (jvs/+) mice and age-matched wild-type (WT) mice were used.