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“The real voyage of discovery consists not in seeking new landscapes, but in having new eyes”—Marcel Proust.
New perspectives can require a paradigm shift, and then innovative concepts can arise from incidental but penetrating insights. A new disease entity might require new diagnostic and conceptual approaches before achieving general acceptance. The establishment of diagnostic criteria is based on experience and essential differentiation from similar pathologies and secondary conditions. Essential pathophysiological and genetic approaches might lead to novel therapeutic methods that could rescue patients from lethal events.
Hirano et al identified triglyceride deposit cardiomyovasculopathy (TGCV) in a patient who received a heart cardiac transplant in Japan during 2008.1 2 Microscopy revealed atherosclerotic triglyceride, rather than cholesterol deposits, in the coronary arteries, and numerous vacuoles in cardiomyocytes of the explanted heart. Genetic analysis discovered that the patient harboured a mutation in the adipose triglyceride lipase gene. One established cause of TGCV is a genetic deficiency of adipose triglyceride lipase that plays a key role in intracellular triglyceride hydrolysis. Thus, TGCV was encoded as a rare cardiovascular disorder in Orphanet (ORPHA code: 565612).3 This editorial discusses how to recognise and diagnose TGCV using current methods and provides some suggestions to help understand this rare disease entity.
TGCV and atherosclerosis
The principal disorder in TGCV is defective intracellular lipolysis, which causes excessive triglyceride accumulation in the myocardium and coronary artery vascular smooth muscle cells, leading to heart failure and coronary artery disease with a poor prognosis.
The total number of patients diagnosed with TGCV in Japan between 2008 and 2014 was <10 according to a report published by the Japan TGCV study group.4 Thereafter, the number increased to 226; among whom, 45 were deceased by the end of 2019, indicating a high-risk profile. The rapid increase in the number of patients might have been …
Correction notice This article has been corrected since it was published Online First. Superscript formatting was corrected in Box 1.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient and public involvement Patients and/or the public were not involved in the design, or conduct, or reporting, or dissemination plans of this research.
Patient consent for publication Not required.
Provenance and peer review Commissioned; internally peer reviewed.
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