Introduction

“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.