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Mutations in the GFPT1 and DPAGT1 genes, which encode enzymes associated with roles in protein N-linked glycosylation, have been recently identified in a rare subgroup of patients with congenital myasthenic syndromes (CMSs). Aberrant glycosylation is implicated in the development of cardiomyopathies in the congenital disorders of glycosylation. We investigated whether patients with CMS and GFPT1 or DPAGT1 mutations also had evidence of a cardiac phenotype. Cardiovascular magnetic resonance and echocardiography were used to evaluate cardiac structure and function in patients with GFPT1 (n=2) and DPAGT1 (n=2) mutations. Electrocardiography was abnormal in all, with abnormal repolarization and deep S waves (n=3) or left ventricular hypertrophy by voltage criteria (n=1). Despite normal biventricular size and systolic function, GFPT1/DPAGT1 patients demonstrated late gadolinium enhancement suggestive of myocardial fibrosis (n=4), diastolic dysfunction (n=3) and impaired phosphocreatine to adenosine triphosphate ratio (an indicator of myocardial energetic state), assessed using 31P magnetic resonance spectroscopy (n=2). These findings may reflect incipient cardiomyopathy due to aberrant cardiac glycoprotein function and reinforce the need for cardiac surveillance in patients with disorders due to glycosylation pathway defects. © 2013 et al.; licensee Cardiology Academic Press.


Journal article


Experimental and Clinical Cardiology

Publication Date





3139 - 3145