Novel Loss of Function in the AGK Gene

JACC: Case Reports

Lazaro E. Hernandez, MD¹  Parul Jayakar, MD²  Bibhuti B. Das, MD²  Maryanne Chrisant, MD³  Kathryn C. Chatfield, MD, PhD⁴ 

[1] Address for correspondence: Dr. Bibhuti B. Das, Joe DiMaggio Children’s Hospital Heart Institute, Memorial Health Care, 1150 North 35 Avenue, Hollywood, Florida 33021.;Department of Pediatric Cardiology, Joe DiMaggio Children’s Hospital Heart Institute, Memorial Health Care, Hollywood, Florida;Division of Cardiology, Children’s Hospital Colorado, Aurora, Colorado;Division of Genetics and Metabolism, Nicklaus Children’s Hospital, Miami, Florida;

关键词: acylglycerol kinase;    AGK;    mitochondrial cardiomyopathy;    Sengers syndrome;   

DOI  :  

来源: DOAJ

【 摘 要 】

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.)

【 授权许可】

Unknown