International Journal of Cardiology 136 (2009) e1 – e2 www.elsevier.com/locate/ijcard
Letter to the Editor
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and cardiogenic shock Efrén Martínez-Quintana a,⁎, Luis Peña-Quintana b , J.A. Artíles-Vizcaíno c , Fayna Rodríguez-González d b
a Cardiology Service, Complejo hospitalario Universitario Insular-Materno infantil, Las Palmas de Gran Canaria, Spain Gratroenterology and Nutrition Children's Unit, Complejo hospitalario Universitario Insular-Materno infantil, Las Palmas de Gran Canaria, Spain c Internal Medicine Service, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain d Intensive Medicine Unit, Complejo hospitalario Universitario Insular-Materno infantil, Las Palmas de Gran Canaria, Spain
Received 8 January 2008; accepted 26 April 2008 Available online 26 July 2008
Keywords: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD; Cardiogenic shock
Mitochondrial fatty acids beta-oxidation provides the major source of energy for heart, liver and skeletal muscle. Several enzymes are involved in this spiral cycle. Long chain 3 hydroxyacil CoA dehydrogenase (LCHAD) deficiency is a rare, autosomal recessive inborn error of fatty acid oxidation. Clinical presentation usually is hypoketotic hypoglycemia but other sings and symptoms such as failure to thrive, feeding difficulties, cholestatic, hepatic dysfunction, peripheral neuropathy, pigmentary retinopathy, hypotonia, recurrent muscular pains, cardiomyopathy (dilated or hypertrophic), arrhytmias or sudden death can be found [1–4]. We present a case of a 16 years old woman diagnosed at age of one year due to hypoketotic hypoglycemia, liver disease and pigmentary retinopathy. The patient was proven to be LCHAD deficient by enzymatic and mutation analysis (1528 G N C) and treated with specific diet. During the last year she began to have more hypotonia, being relegated to a wheelchair for the last months.
⁎ Corresponding author. Alcalde Ramirez Bethencourt 10 3-A, 35003 Las Palmas de Gran Canaria, Spain. E-mail address:
[email protected] (E. Martínez-Quintana). 0167-5273/$ - see front matter © 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.ijcard.2008.04.058
The patient came to the hospital because of edema and increase of temperature in the low left member in the last two days accompanied by solid and liquid dysphagia. The doppler ultrasound showed left femoropopliteal subacute venous thrombosis. Laboratoy studies at presentation revealed only hypoglycemia with normal renal function, liver enzymes and creatine kinasa. Echocardiography showed a normal left ventricular systolic function with an electrogardiogram on sinusal rhythm. Though treatment with therapeutic doses of low molecular weight heparin and levofloxacin was started the patient developed a progressive severe hypotonia with heart failure and hypotension. Echocardiography showed severe global ventricular dysfunction (EF 20%) with no dilation, valvular disease or pericardial effusion (Fig. 1A). Blood test evidenced high levels of liver enzymes (AST 124 U/l, ALT 232 U/l) and creatine kinasa (2459 U/l). Treatment with intravenous furosemide, dopamine and parenteral nutrition was started with improvement of symptoms and recovery of ventricular function in ten days time (EF 52%) One month later the patient was capable of walking and had a preserved left ventricular systolic function (Fig. 1B). Basic treatment of LCHAD patients consist in a low fat and high carbohydrate diet with fasting avoidance and rehabilitation [5]. Due to the high morbidity and mortality,
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Fig. 1. M-Mode in the paraesternal axis view.
metabolic crisis should be treated as soon as possible. Cardiogenic shock must be aggressively managed because, as in this first time reported case, it can be reversible. References [1] Peña Quintana L, Sanjurjo Crespo P. Diagnostic approach and treatment of inherited mitochondrial fatty acid oxidation disorders. An Esp Pediatr 2001:524–34. [2] den Boer ME, Wanders RJ, Morris AA, IJlst L, Heymans HS, Wijburg FA. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics Jan 2002;109(1):99–104.
[3] Martínez Quintana E, Peña Quintana L, Rodríguez González F. Long-chain 3-Hydroxyacyl-coenzyme a dehydrogenase deficiency and cardiomyopathy. Rev Esp Cardiol Dec 2007;60(12):1332–4. [4] Bonnet D, Martin D, De Lonlay Pascale, et al. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 1999;100:2248–53. [5] Gillingham MB, Connor WE, Matern D, et al. Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab 2003;79:114–23.
