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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.).

Original publication

DOI

10.1016/j.jaccas.2020.03.021

Type

Journal article

Journal

JACC Case Rep

Publication Date

05/2020

Volume

2

Pages

760 - 763

Keywords

ATGL, adipose triglyceride lipase, CK, creatine kinase, CMR, cardiac magnetic resonance, EMB, endomyocardial biopsy, PNPLA2, patatin-like phospholipase domain containing 2, cardiac magnetic resonance, cardiac transplant, cardiomyopathy, chronic heart failure, genetic disorders, lipid metabolism disorders