The early diagnosis, appropriate treatment, and follow-up for the management of fatty acid oxidation disorders significantly improved the cardiac symptoms of the disease, according to a new study.

The investigators, led by Gulden Fatma Gokcay, MD, PhD, from the Division of Pediatric Nutrition and Metabolism at the Istanbul Medical Faculty Children’s Hospital in Türkiye, set out to clarify the frequency of cardiac pathologies, such as arrhythmias and cardiomyopathy, as well as the response to treatment in patients with fatty acid oxidation disorders. In doing so, they analyzed 68 patients with the disease.

Among these patients, 16 had a type of long chain fatty acid oxidation disorder (LCFAOD), including very long chain acyl-CoA dehydrogenase (VLCAD), carnitine palmitoyltransferase deficiency type 1 (CPT 1) deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, and trifunctional protein (TFP) deficiency.

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Read more about the etiology of the different types of LCFAOD

The study was published in the journal Pediatrics International. 

The researchers evaluated the patients’ cardiac function using echocardiography, electrocardiography, and 24-hour Holter monitoring.

Of the 45 patients who developed disease symptoms before diagnosis, 18 (40%) had cardiac abnormalities, which included cardiomyopathy seen in 14 patients and conduction abnormalities seen in 4 patients. 

The cardiac symptoms were more common among patients with primary systemic carnitine deficiency, affecting 57.1% of the patients followed by those with multiple acyl-CoA dehydrogenase, LCHAD, and TFP deficiencies.

On the contrary, patients with medium-chain acyl-CoA dehydrogenase, VLCAD, and CPT1 deficiencies had a lower prevalence of cardiac symptoms.

Treatment led to the complete resolution of cardiomyopathy in the majority of cases (57%) and partial resolution in 14.3% of cases, while it persisted in 1 patient with VLCAD. Two patients died of cardiomyopathy soon after birth.

LCFAOD is characterized by the body’s inability to break down long-chain fatty acids. 


Balci MC, Karaca M, Ergul Y, et al. Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders. Published online August 2, 2022. doi:10.1111/ped.15317