Closure of right pulmonary artery to left atrium fistula by duct occluder device.

We report the successful transcatheter closure of the right pulmonary artery fistula to the left atrium in a 4-year-old boy, who had presented with cyanosis and easy fatigability, identified after two-dimensional echocardiogram with bubble contrast study, computed tomography (CT) angiography, and cardiac catheterization. The fistula was successfully closed by a transcatheter approach using an 18/16 duct occluder device. There was marked improvement clinically and no complication on 2-months follow-up.

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

Background: Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2, CAV1 and PTRF have been assigned to each type.

Methods: The study included clinical and molecular investigations of CGL disease in a consanguineous Pakistani family.

Abo-incompatible heart transplantation in infants: the Freeman Hospital experience.

Background: Incompatibility of the major blood groups A, B, and O has been an absolute contraindication for heart transplantation. However, because of immunologic immaturity, infants may have relative protection from hyperacute rejection and thus could undergo transplantation with ABO-mismatched organs.

Methods: Since January 2000, the authors have adopted a policy of considering infants for ABO-incompatible heart transplantation.