ATGL Deficiency-Induced Triglyceride Deposit Cardiomyovasculopathy Requiring Heart Transplant: A 5-Year Follow-Up.
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
Journal
JACC. Case reports
ISSN: 2666-0849
Titre abrégé: JACC Case Rep
Pays: Netherlands
ID NLM: 101757292
Informations de publication
Date de publication:
May 2020
May 2020
Historique:
received:
17
03
2020
accepted:
26
03
2020
entrez:
28
7
2021
pubmed:
20
5
2020
medline:
20
5
2020
Statut:
epublish
Résumé
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. (
Identifiants
pubmed: 34317343
doi: 10.1016/j.jaccas.2020.03.021
pii: S2666-0849(20)30347-8
pmc: PMC8302057
doi:
Types de publication
Case Reports
Langues
eng
Pagination
760-763Informations de copyright
© 2020 The Authors.
Références
J Neurol. 2011 Nov;258(11):1987-97
pubmed: 21544567
Mol Genet Metab. 2015 Jun-Jul;115(2-3):110-7
pubmed: 25956450
Nat Genet. 2007 Jan;39(1):28-30
pubmed: 17187067
Int J Cardiol. 2016 Mar 15;207:165-7
pubmed: 26803235
PLoS Genet. 2010 Dec 09;6(12):e1001239
pubmed: 21170305
Orphanet J Rare Dis. 2019 Oct 26;14(1):234
pubmed: 31655616
Nat Med. 2011 Aug 21;17(9):1076-85
pubmed: 21857651
Biochem Biophys Res Commun. 2014 Jan 10;443(2):574-9
pubmed: 24332944
Science. 2004 Nov 19;306(5700):1383-6
pubmed: 15550674