Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome.

Objective: To test whether variants in ADRB1 and CYP2C9 genes identify subgroups of individuals with differential response to treatment for Marfan syndrome through analysis of data from a large, randomized trial.

Study Design: In a subset of 250 white, non-Hispanic participants with Marfan syndrome in a prior randomized trial of atenolol vs losartan, the common variants rs1801252 and rs1801253 in ADRB1 and rs1799853 and rs1057910 in CYP2C9 were analyzed. The primary outcome was baseline-adjusted annual rate of change in the maximum aortic root diameter z-score over 3 years, assessed using mixed effects models.

Pulmonary artery endothelial cell phenotypic alterations in a large animal model of pulmonary arteriovenous malformations after the Glenn shunt.

Background: Longevity of the superior cavopulmonary connection (SCPC) is limited by the development of pulmonary arteriovenous malformations (PAVM). The goal of this study was to determine whether phenotypic changes in pulmonary artery endothelial cells (PAEC) that favor angiogenesis occur with PAVM formation.

Methods: A superior vena cava to right pulmonary artery connection was constructed in 5 pigs.

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy.

Background: The Pediatric Heart Network designed a clinical trial to compare aortic root growth and other short-term cardiovascular outcomes in children and young adults with Marfan syndrome randomized to receive atenolol or losartan. We report here the characteristics of the screened population and enrolled subjects.

Methods And Results: Between 2007 and 2011, 21 clinical sites randomized 608 subjects, aged 6 months to 25 years who met the original Ghent criteria and had a body surface area-adjusted aortic root diameter z-score >3.

Determinants of extracellular matrix remodelling are differentially expressed in paediatric and adult dilated cardiomyopathy.

Aims: The left ventricular phenotype of idiopathic dilated cardiomyopathy (DCM) can appear similar in paediatric and adult patients. However, the aetiology of paediatric DCM is usually idiopathic, and often leads an aggressive clinical course. A structural underpinning of DCM is extracellular matrix changes, which are determined by a balance between matrix metalloproteinases (MMPs) and tissue inhibitors of MMPs (TIMPs).

Circulating matrix metalloproteinase levels after ventricular septal defect repair in infants.

Background: Surgery for congenital heart disease initiates a complex inflammatory response that can influence the postoperative course. However, broad integration of the cytokine and proteolytic cascades (matrix metalloproteinases: MMPs), which may contribute to postoperative outcomes, has not been performed.

Methods And Results: Using a low-volume (50-60 μL), high-sensitivity, multiplex approach, we serially measured a panel of cytokines (interleukins 2, 4, 6, 8, and 10, tumor necrosis factor alpha, interleukin 1β, and granulocyte-macrophage colony stimulating factor) and matrix metalloproteinases (matrix metalloproteinases 2, 3, 7, 8, 9, 12, and 13) in patients (n = 9) preoperatively and after repair of ventricular septal defect.

Initial experience with a miniaturized multiplane transesophageal probe in small infants undergoing cardiac operations.

Purpose: There has been reluctance to use intraoperative transesophageal echocardiography (TEE) in small infants. We assessed the utility and safety of a new miniaturized multiplane micro-TEE probe in small infants undergoing cardiac operations.

Description: Hemodynamic and ventilation variables were prospectively recorded before and after micro-TEE insertion and removal in infants weighing 5 kg or less undergoing cardiac operations.

Universal screening for extracardiac abnormalities in neonates with congenital heart disease.

Extracardiac or genetic abnormalities (EGA) represent a factor in the morbidity of patients with congenital heart disease. We evaluated the way neonates with CHD are screened at our institution and determined the yield for the screening tests. We reviewed the charts of 223 neonates with structural CHD.

Clinical outcomes of palliative surgery including a systemic-to-pulmonary artery shunt in infants with cyanotic congenital heart disease: does aspirin make a difference?

Background: Aspirin (ASA) often is used to prevent thrombosis in infants with congenital heart disease after placement of a systemic-to-pulmonary artery shunt, but its effect on outcomes is unknown.

Methods And Results: The present multicenter study prospectively collected data on 1-year postoperative rates of death, shunt thrombosis, or hospitalization age <4 months for bidirectional Glenn/hemi-Fontan surgery in 1004 infants. The use and dose of ASA were recorded.

Implications and limitations of an abnormal fetal echocardiogram.

This study evaluates the accuracy of fetal echocardiograms in terms of anatomic diagnosis and predicted neonatal management over a 7-year period. Although an abnormal fetal echocardiogram is a highly reliable predictor of postnatal structural heart defects, challenges persist in the areas of conotruncal malformations, aortic arch, and pulmonary venous anomalies.

Outcome following, and impact of, prenatal identification of the candidates for the Norwood procedure.

Objectives: Our study evaluates hospital survival following prenatal identification of candidates for the Norwood procedure, and the impact of prenatal diagnosis on survival, preoperative stability, and postoperative morbidity.

Methods: We reviewed records of all patients who were identified prenatally as candidates for the Norwood procedure, and compared them to all postnatally diagnosed patients who underwent the Norwood procedure between August 1995 and May 2002.

Results: Of the 98 patients studied, 45 (46%) were diagnosed prenatally.