Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of plasmalogens, a specialized class of membrane phospholipids. Classically, patients have a skeletal dysplasia and profound mental retardation, although milder phenotypes are increasingly being identified. It is commonly caused by defects in the peroxisome transporter, PEX7 (RCDP1), and less frequently due to defects in the peroxisomal enzymes required to initiate plasmalogen synthesis, GNPAT (RCDP2) and AGPS (RCDP3).

Left outflow tract anomalies in children.

Purpose Of Review: To provide a discussion of the current knowledge of the genetics of left outflow tract of the heart, including the aortic stenosis, in children. It addresses the available means of diagnosis for syndromic and nonsyndromic left outflow tract abnormalities and implications for at-risk family members. Options for prenatal testing and recommendations for cardiac follow-up are presented.

Variation in the prevalence of congenital heart defects by maternal race/ethnicity and infant sex.

Objective: To determine the prevalence of major congenital heart defects (CHD) by ethnicity and sex.

Study Design: Data from the Florida Birth Defects Registry was used to conduct a retrospective cohort study with 8029 singleton infants with 11 CHDs born 1998-2003 to resident non-Hispanic (NH) white, NH-black, and Hispanic women aged 15 to 49. Defect-specific prevalence rates, ratios, and 95% confidence intervals were calculated.

Are black and Hispanic infants with specific congenital heart defects at increased risk of preterm birth?

Congenital heart defects (CHDs) are a leading cause of infant morbidity and mortality. Infants with CHDs have increased risk of preterm birth (PTB) compared to infants without birth defects. Although non-Hispanic (NH) Blacks are more likely to be born preterm and Hispanics have rates similar to those of PTB to NH-Whites, it is unknown if this pattern is present for infants with specific types of CHDs.

Fetal growth among infants with congenital heart defects by maternal race/ethnicity.

Purpose: Congenital heart defects (CHDs) are the most prevalent birth defects. Infants with CHDs more often are small-for-gestational age (SGA) than infants without CHD; however, little is known about racial/ethnic variations in prevalence of SGA or large-for-gestational age (LGA) for infants born with CHDs. This study determined the risk of SGA and LGA for non-Hispanic (NH)-black and Hispanic infants with CHDs.

Is the prevalence of specific types of congenital heart defects different for non-Hispanic white, non-Hispanic black and Hispanic infants?

Background: Our purpose was to determine the prevalence of specific types of CHD among non-Hispanic (NH)-Black, NH-White, and Hispanic infants.

Methods: We conducted a retrospective cohort study with 9,352 singleton infants diagnosed with conotruncal, right or left obstructive or septal CHDs from the Florida Birth Defects Registry, born 1998-2003 to resident NH-White, NH-Black, and Hispanic women aged 15-49. Defect-specific prevalence rates, prevalence ratios and P-values were calculated for each type of CHD and by number of defects for each racial/ethnic group.

A patient with an interstitial duplication of chromosome 5p11-p13.3 further confirming a critical region for 5p duplication syndrome.

Partial or complete trisomy 5p has been associated with characteristic facial features, developmental delay, seizures, congenital heart defects, and respiratory compromise. We present a child with developmental delay, seizures, and congenital cardiac anomalies found to have a previously unreported de novo interstitial duplication of chromosome 5p, 46,XX,dup(5) (p11p13.3).

Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance.

The autosomal dominant inheritance of bicommissural aortic valve (BAV) (Online Mendelian Inheritance in Man #109730) in some families is well-documented; however, the inheritance of BAV with thoracic aortic aneurysm (TAA) is less clear. Whether the aneurysm is secondary to hemodynamic perturbation related to the valve abnormality or a primary manifestation of the disorder remains controversial. Guidelines are needed regarding the follow-up and treatment of these patients and their families.

Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome.

Objectives: Turner syndrome (TS) is associated with congenital cardiovascular defects (CCVDs), most commonly bicuspid aortic valve (BAV) and aortic coarctation (COARC), congenital renal anomalies, and fetal lymphedema. It has been theorized that compressive or obstructive effects of fetal lymphedema may actually cause cardiovascular and renal dysmorphogenesis in TS. The objective of this study was to determine whether there is a specific association between a history of fetal lymphedema and CCVDs in monosomy X, or TS, independent of karyotype or general severity of the phenotype.