Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report

Figure 1 Holter electrocardiogram monitoring findings in the patient. A: Holter electrocardiogram monitoring showed supraventricular tachycardia before treatment, and the heart rate was 158 bpm; B: Holter electrocardiogram monitoring showed supraventricular tachycardia when the patient presented with a loss of consciousness, and the heart rate was 184 bpm.

Figure 2 Myopathological findings in our patient. A: Hematoxylin and eosin staining. Muscular fibers were mild variable in size and some muscular fibers were moderated to small vacuoles; B: Modified Gomori trichrome staining showed atypical ragged red fibers; C: Oil red O staining showed predominant lipid accumulation mainly in type I fibers.

Figure 3 Result of gene sequencing about the patient and her parents. Electropherogram of the heterozygous mutation c.250G>A (p.A84T) and c.872T>G (p.V291G) in the ETFDH gene on the patient; electropherogram of the heterozygous mutation c.250G>A (p.A84T) in the ETFDH gene on her father; and electropherogram of the heterozygous mutation c.872T>G (p.V291G) in the ETFDH gene on her mother are shown (arrows and circles indicate mutation site).