Two cases of very long chain acyl-CoA dehydrogenase deficiency (VLCADD), a type of long chain fatty acid oxidation disorder (LCFAOD), presented at different ages with different forms of cardiomyopathy.
The case report, published in Case Reports in Cardiology, discussed one patient (Patient 1) who presented with cardiogenic shock and dilated cardiomyopathy (DCM), while the second (Patient 2) had hypertrophic cardiomyopathy (HCM).
Few cases of VLCADD presenting with cardiomyopathy exist in the literature, and most reported instances have occurred in the neonatal or early infancy period, according to the authors. In this case series, Patient 1 had no previous history of myopathy or cardiac disorder and did not present with symptoms of DCM until they were 4 years of age. Patient 2 presented in early infancy, at 35 days of age, with hypoglycemia, suspected sepsis, and HCM.
“It is important to consider curable genetic conditions, including [fatty acid oxidation] disorders such as VLCADD, as potential causes of infantile or delayed onset [cardiomyopathies],” the study authors said. “VLCADD encompasses a continuum of severity, including minimal symptoms to life-threatening conditions in different age groups, resulting in a very heterogeneous clinical outcome.”
Read more about LCFAOD complications
“[Inborn errors of metabolism] should be thought of in every individual case with suspicious sepsis or cardiac failure regardless of age or previous history,” the authors suggested.
Patient 1 was admitted to the intensive care unit at the age of 4 years and 3 months with decreased consciousness and gastrointestinal symptoms including abdominal pain, nausea, vomiting, and decreased appetite. Grade 3 heart murmur, diffuse expiratory wheezing, and hepatomegaly were uncovered during physical examination. Echocardiography revealed dilation in all chambers, severe valve regurgitation, DCM, and mild pulmonary hypertension.
Metabolic evaluation revealed an abnormal acylcarnitine profile indicative of a VLCADD diagnosis. The patient was started on medium chain triglyceride oil in combination with a low-fat and high-carbohydrate diet.
Patient 2 was admitted at 35 days of age for vomiting, poor feeding, poor weight gain, lethargy, and suspected sepsis. Failure to thrive, hypotonia, and hepatomegaly were discovered upon physical examination. Acylcarnitine profile analysis showed features indicative of VLCADD or carnitine palmitoyltransferase 2 (CPT2) deficiency. Further analysis with cultured fibroblast enzyme activity showed decreased VLCAD enzyme activity but only slightly reduced CPT2 levels. Sanger sequencing confirmed a VLCADD diagnosis with a splicing defect mutation c1269+1G>A in the VLFAD gene.
Alaei F, Shakiba M, Saneifard H, Vahidshahi K, Alaei M. Defects in very long-chain fatty acid oxidation presenting as different types of cardiomyopathy. Case Rep Cardiol. 2022;2022:5529355. doi:10.1155/2022/5529355