Homocysteinemia in a Case Presenting with Right Ventricular Dysfunction and Deep Vein Thrombosis

Dr. R. B. Grashia Packia Stary, Dr. P. Latha, Dr. R. Nagendran, Dr. E. Nithin Siromony

Abstract: Elevated levels of homocysteine in the blood is known as homocysteinemia. Homocystinuria, an inborn error of metabolism is a rare disorder. It usually presents with ectopia lentis, stroke, mental retardation, anaemia and skeletal abnormalities. 31-year-old man presented with marfanoid features, right ventricular dysfunction, DVT in left lower limb. Other systems were normal. Investigations revealed of very high Methionine (Homocystinemia) probably due to cystathionine ? synthase deficiency.

Keywords: Homocystinuria, Thrombosis, Marfanoid features