ATGL Deficiency-Induced Triglyceride Deposit Cardiomyovasculopathy Requiring Heart Transplant

Authors :: Fernando Riesgo Gil
Tessa Homfray
Prina Rajani
Jan Lukas Robertus
Mayooran Shanmuganathan
Joyce Wong
Source :: JACC Case Reports, JACC: Case Reports, Vol 2, Iss 5, Pp 760-763 (2020)
Publication Year :: 2020
Publisher :: Elsevier, 2020.
Abstract: A young man presented with syncope. He was diagnosed with triglyceride deposit cardiomyovasculopathy and skeletal myopathy secondary to adipose triglyceride lipase (ATGL) deficiency. Despite optimal medical therapy, he required heart transplantation to treat his heart failure. Five years post-transplant, the graft function was normal with no evidence of triglyceride deposits. (Level of Difficulty: Intermediate.)<br />Graphical abstract<br />A young man presented with syncope. He was diagnosed with triglyceride deposit cardiomyovasculopathy and skeletal myopathy secondary to adipose…

Subjects :: 0301 basic medicine
medicine.medical_specialty
5 year follow up
Lipid Metabolism Disorder
Cardiomyopathy
Case Report
030105 genetics & heredity
Graft function
cardiac magnetic resonance
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Clinical Case
CMR, cardiac magnetic resonance
Internal medicine
medicine
Diseases of the circulatory (Cardiovascular) system
genetic disorders
ATGL, adipose triglyceride lipase
biology
Triglyceride
business.industry
Syncope (genus)
medicine.disease
biology.organism_classification
PNPLA2, patatin-like phospholipase domain containing 2
chronic heart failure
chemistry
lipid metabolism disorders
Heart failure
RC666-701
Adipose triglyceride lipase
Cardiology
EMB, endomyocardial biopsy
Cardiology and Cardiovascular Medicine
business
cardiac transplant
cardiomyopathy
030217 neurology & neurosurgery
CK, creatine kinase

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