Primary carnitine deficiency cardiomyopathy

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Presentation transcript:

Primary carnitine deficiency cardiomyopathy Shu-shui Wang, Jiao Rao, Yu-fen Li, Zhi-wei Zhang, Guo-hong Zeng International Journal of Cardiology Volume 174, Issue 1, Pages 171-173 (June 2014) DOI: 10.1016/j.ijcard.2014.03.190 Copyright © 2014 The Authors Terms and Conditions

Fig. 1 Images for Patient 4. A: Transthoracic echocardiogram before carnitine supplementation showing myocardial thickening, left ventricular enlargement and pericardial effusion. B: Echocardiogram before carnitine supplementation. Arrow shows thickened papillary muscle. C: Two weeks after carnitine therapy. The left ventricle has decreased in size and pericardial effusion has disappeared. D: One month after therapy. Heart size has reduced to normal with mild myocardial hypertrophy. E: SLC22A5 high-throughput sequencing of the blood of the family. Gene sequences of Patient (1) show that he has a homozygote of the c.338G>A mutation. Gene sequences of the patient's father (2) and mother (3) show a heterozygote of the c.338G>A mutation. LV, left ventricle; RV, right ventricle; LA, left atrium; RA, right atrium; and IVS, interventricular septum. International Journal of Cardiology 2014 174, 171-173DOI: (10.1016/j.ijcard.2014.03.190) Copyright © 2014 The Authors Terms and Conditions

Fig. 2 Images for Patient 5. A: Echocardiogram before therapy. Myocardial thickening, left ventricular enlargement and mitral regurgitation is observed. B: Echocardiogram 3months after l-carnitine treatment shows a left ventricle reduced in size and no mitral regurgitation. C: SLC22A5 gene sequences of the blood of the family. Gene sequences of Patient (1) show that compound heterozygosity for c.338G>A and c.760C>T mutations. His father (2) has a heterozygote of the c.760C>T mutation and his mother (3) has a heterozygote of the c.338G>A mutation. LV, left ventricle; RV, right ventricle; LA, left atrium; and RA, right atrium. International Journal of Cardiology 2014 174, 171-173DOI: (10.1016/j.ijcard.2014.03.190) Copyright © 2014 The Authors Terms and Conditions