Suzan J G Knottnerus, Jeannette C Bleeker, Sacha Ferdinandusse, Riekelt H Houtkooper, Mirjam Langeveld, Aart J Nederveen, Gustav J Strijkers, Gepke Visser, Ronald J A Wanders, Frits A Wijburg, S Matthijs Boekholdt, Adrianus J Bakermans
Cardiomyopathy can be a severe complication in patients with long-chain fatty acid β-oxidation disorders (LCFAOD), particularly during episodes of metabolic derangement. It is unknown whether latent cardiac abnormalities exist in adult patients. To investigate cardiac involvement in LCFAOD, we used proton magnetic resonance imaging (MRI) and spectroscopy (1 H-MRS) to quantify heart function, myocardial tissue characteristics, and myocardial lipid content in 14 adult patients (two with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD); four with carnitine palmitoyltransferase II deficiency (CPT2D); and eight with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)) and 14 gender-, age-, and BMI-matched control subjects...
September 2020: Journal of Inherited Metabolic Disease