ATGL Deficiency-Induced Triglyceride Deposit Cardiomyovasculopathy Requiring Heart Transplant: A 5-Year Follow-Up

Prina Rajani; Jan Lukas Robertus; Joyce Wong; Tessa Homfray; Fernando Riesgo Gil; Mayooran Shanmuganathan

doi:10.1016/j.jaccas.2020.03.021

ATGL Deficiency-Induced Triglyceride Deposit Cardiomyovasculopathy Requiring Heart Transplant: A 5-Year Follow-Up

JACC Case Rep. 2020 May 20;2(5):760-763. doi: 10.1016/j.jaccas.2020.03.021. eCollection 2020 May.

Authors

Prina Rajani¹, Jan Lukas Robertus¹, Joyce Wong¹, Tessa Homfray¹, Fernando Riesgo Gil¹, Mayooran Shanmuganathan^{1

2}

Affiliations

¹ Heart Transplant Department, Royal Brompton and Harefield NHS Foundation Trust, Oxford, United Kingdom.
² Cardiovascular Medicine, University of Oxford, Oxford, United Kingdom.

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.).

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.

Publication types

Case Reports