Triglyceride deposit cardiomyovasculopathy

Triglyceride deposit cardiomyovasculopathy (TGCV) is an extremely rare metabolic disorder characterized by the abnormal accumulation of triglycerides in the heart, coronary arteries, and other tissues. The disease is caused by dysfunction in intracellular triglyceride metabolism, most notably linked to mutations in the PNPLA2 gene encoding adipose triglyceride lipase (ATGL), though cases without identifiable genetic mutations (idiopathic TGCV) have also been described. TGCV was first identified and characterized primarily in Japanese populations. The condition predominantly affects the cardiovascular system. Patients typically present with severe heart failure, coronary artery disease, and cardiomyopathy resulting from massive triglyceride deposition within cardiomyocytes and coronary arterial walls. This lipid accumulation leads to impaired cardiac function, coronary artery stenosis, and progressive heart failure that can be refractory to conventional treatments. Additional features may include skeletal myopathy and elevated serum creatine kinase levels. A hallmark diagnostic finding is the presence of vacuolated peripheral blood leukocytes (Jordan's anomaly), which reflects systemic lipid storage abnormalities. Treatment options for TGCV remain limited. Management is primarily supportive, focusing on heart failure therapy and coronary interventions. Some patients have required heart transplantation due to end-stage cardiac failure. Investigational approaches have included the use of medium-chain fatty acid supplementation and pharmacological agents aimed at reducing intracellular triglyceride accumulation. Research into targeted therapies is ongoing, but no disease-specific approved treatment currently exists.

Common questions about Triglyceride deposit cardiomyovasculopathy