Echocardiographic Diagnosis of Bland-White-Garland Syndrome in an Asymptomatic Adult.

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital defect and usually diagnosed within the first 2 months of life. Only 10% of patients survive to adulthood largely in part to the formation of extensive collaterals from the right to left coronary arteries. We present a case of ALCAPA diagnosed in an asymptomatic adult through a transthoracic echocardiogram (TTE).

Case report: A novel apolipoprotein A-I missense mutation apoA-I (Arg149Ser)Boston associated with decreased lecithin-cholesterol acyltransferase activation and cellular cholesterol efflux.

We report a novel heterozygous apolipoprotein A-I (apoA-I) missense mutation (c.517C>A, p.Arg149Ser, designated as apoA-IBoston) in a 67-year-old woman and her 2 sons, who had mean serum high-density lipoprotein (HDL) cholesterol, apoA-I, and apoA-I in very large α-1 HDL that were 10%, 35%, and 16% of normal, respectively (all P < .