Novel Loss of Function in the AGK Gene

Abstract

The authors present a case of mitochondrial cardiomyopathy due to a novel mutation of AGK gene that led to progressive heart failure. The cardiac magnetic resonance image findings of diffusely elevated relaxation time and increase in extracellular volume in the myocardium without early or late gadolinium enhancement may suggest mitochondrial cardiomyopathy. The authors emphasized the multidisciplinary team approach in the care of patients with mitochondrial cardiomyopathies. (Level of Difficulty: Advanced.)

Keywords

• acylglycerol kinase
• AGK
• mitochondrial cardiomyopathy
• Sengers syndrome