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Novel Loss of Function in the AGK Gene: Rare Cause of End-Stage Heart Failure
Bibhuti B Das1, Lazaro E Hernandez1, Parul Jayakar2
1Department of Pediatric Cardiology, Joe DiMaggio Children's Hospital Heart Institute, Memorial Health Care, Hollywood, Florida.
Insights
A novel mutation in the AGK gene caused progressive heart failure in a patient with mitochondrial cardiomyopathy. Cardiac MRI findings like elevated relaxation times may indicate this condition.
Area of Science:
- Cardiology
- Genetics
- Biochemistry
Background:
- Mitochondrial cardiomyopathy is a severe condition affecting heart function.
- Genetic mutations are a known cause of mitochondrial diseases.
- Early diagnosis and management are crucial for patient outcomes.
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.).
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