Dilated Cardiomyopathy as the Only Clinical Manifestation of Carnitine Transporter Deficiency.
The authors present a case of carnitine transporter deficiency, which was unmasked after an episode of respiratory distress resistant to treatment with bronchodilators. Chest radiograph showed cardiomegaly; electrocardiogram showed left ventricular hypertrophy and echocardiography revealed dilated cardiomyopathy. Heart failure therapy was initiated and metabolic screening was requested, as family history was indicative of inborn errors of metabolism. Very low levels of free carnitine and carnitine esters in blood were found and genetic testing confirmed the diagnosis of carnitine transporter deficiency. After oral supplementation with L-carnitine, symptoms gradually ameliorated and heart function had fully recovered. Sequence analysis in the SLC22A5 gene revealed the missense mutation c.1319C > T (p.Th440Met) in homozygous state. Homozygous c.1319C > T (p.Th440Met) mutation has not been associated with a pure cardiac phenotype before.
4th Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece.
Kyriaki
K
Papadopoulou-Legbelou
4th Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece. mariaangogou@gmail.com.|, Dimitriou Nika 44, 60 100, Katerini, Greece. mariaangogou@gmail.com.
Maria
M
Gogou
4th Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece.
Vaia
V
Dokousli
4th Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece.
Maria
M
Eboriadou
4th Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece.
Athanasios
A
Evangeliou
D009202:Cardiomyopathies / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*; D002331:Carnitine / Q000172:deficiency* / Q000235:genetics / Q000627:therapeutic use; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D009135:Muscular Diseases / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics
D002331:Carnitine
Carnitine transporter deficiency; Childhood; Dilated cardiomyopathy; SLC22A5 gene