Encephaloceles and severe cardiac malformations are rare presentations in a newborn. The mechanism of these congenital abnormalities is relatively unknown, but it is hypothesized to be related to genetic, environmental, and maternal risk factors. This case report describes a newborn with an occipital encephalocele associated with severe right ventricular hypoplasia secondary to tricuspid and pulmonary atresia. The patient\'s maternal risk factors included obesity, type 2 diabetes mellitus, and everyday tobacco use during pregnancy. Education on preconception planning, management, and counseling is essential as a preventative measure in fetal development and is further emphasized in this case.

Pregnancy is a major life event for most women that causes extensive physiological changes. Hence, it is associated with additional risks in women with congenital heart disease. No reports of pregnancy or a baby born to a woman with isolated right ventricular hypoplasia without an atrial septal defect have been published. In this case, the patient\'s right ventricle was very small with no contractility. The right atrium was highly enlarged, and its contractility resulted in pulmonary circulation without pulmonary hypertension. The size increased post-delivery than that before pregnancy. Fortunately, a healthy infant was born without any right heart failure symptoms.

Absent pulmonary valve with tricuspid atresia or tricuspid stenosis (APV-TA/TS) is an extremely rare congenital heart defect associated with significant morbidity and mortality. Compared to Tetralogy of Fallot with Absent Pulmonary Valve Syndrome, branch pulmonary arteries are not typically significantly dilated. We present the case of a newborn male prenatally diagnosed APV-TA with intact ventricular septum (IVS) and nearly discontinuous branch pulmonary arteries, the surgical strategy employed, and the salient hemodynamic factors considered in the medical decision-making.

Some patients with pulmonary atresia with an intact ventricular septum (PA/IVS) or a left ventricle dominant atrioventricular canal defect (LDAVC) with a hypoplastic right ventricle (RV) and univentricular (1 V) circulation may be candidates for conversion to either a complete biventricular (2 V) repair or a one-and-a-half ventricle repair (1.5 V). We sought to identify pre-operative cardiovascular magnetic resonance (CMR) findings associated with successful conversion from 1V to 1.5V or 2V circulation.
In this single center retrospective study, subjects with PA/IVS or LDAVC and no conotruncal abnormalities were included if they had a 1 V circulation at the time of CMR followed by a surgical intervention intended to convert them to a 1.5 V or 2 V circulation. Conversion failure was defined as any of the following: (1) oxygen saturation < 90% at the most recent follow-up, (2) conversion back to a 1.5 V or 1 V circulation, or (3) death.
In the PA/IVS cohort (n = 15, median age 1.32 years), 10 patients underwent surgical conversion to a 1.5 V circulation and 5 to a 2 V circulation. In the attempted 1.5 V group, there were 2 failures, and these cases had a lower RV mass (p = 0.04). In the attempted 2 V group, there was 1 failure, and no CMR parameters were significantly different compared to the successes. Among the successful 2 V group patients, the minimum RV end-diastolic volume (EDV) was 27 ml/m2. In the LDAVC cohort (n = 15, median age 1.0 years), 1 patient underwent surgical conversion to a 1.5 V circulation and 14 patients to a 2 V circulation. In the attempted 1.5 V group, the 1 conversion was a failure and had an RV EDV of 15 ml/m2. In the attempted 2 V group, there were 2 failures, and these cases had a smaller RV:LV stroke volume ratio (p = 0.05) and a lower RV ejection fraction (p = 0.05) compared to the successes. Among the successful 2 V group patients, the minimum RV EDV was 22 ml/m2.
We identified multiple CMR parameters associated with successful conversion from 1 V circulation to 1.5 V or 2 V circulation in patients with PA/IVS and LDAVC. This information may improve patient selection for conversion procedures and encourage larger studies to better define the role of CMR.

This is a case of a female infant with bilateral coronary ostial atresia associated with pulmonary atresia and ventricular septal defect. She developed coronary ischemia at 1-month of age, when she underwent an aortopulmonary shunt and an aorta-right ventricle shunt. The double-orifice tricuspid valve was separating the right ventricle from the left ventricle. She required extracorporeal cardiopulmonary support because of ventricular dysfunction and mitral regurgitation. Although she was temporarily weaned off the support after mitral valvuloplasty, she died from multiple organ failure. To the best of our knowledge, bilateral coronary ostial atresia associated with pulmonary atresia with ventricular septal defect has not been reported previously.

Embryologically, the common arterial trunk (CAT) is due to the failure of septation by the major outflow cushions. This invariably leads to the presence of an associated large juxta-arterial ventricular septal defect. Overriding of the ventricular septum leads to its biventricular origin in more than 2/3rd of cases. Uncommonly, CAT may be associated with an intact ventricular septum (IVS) and univentricular origin. We describe an infant with CAT, intact IVS, hypoplastic right ventricle, and Ebstein\'s anomaly of the tricuspid valve who presented to us and palliated successfully. The embryological mechanisms are discussed in this report.

To demonstrate the feasibility of using cardiothoracic CT for quantification of the initial right ventricle (RV) dimensions in infants with congenital heart disease (CHD) and a hypoplastic RV and to compare these measurements with those obtained in a control group with CHD without a hypoplastic RV.
Initial RV dimensions, including RV volumes, RV/left ventricle (LV) volume ratios, atrioventricular valve annulus diameter ratios, and RV/LV length ratios based on CT data, were collected from 57 infants with CHD and a hypoplastic RV (hypoplastic RV group; age range, 1 day to 6 months) and 33 infants with tetralogy of Fallot (control group; age range, 1 day to 6 months) and compared between the 2 groups. The type of final surgery was also evaluated in the hypoplastic RV group over a follow-up period of 3-8 years.
The RV and LV volumes and lengths were successfully quantified in all 90 patients. The tricuspid valve annulus diameter could not be measured in cases showing muscular tricuspid atresia and double-inlet LV. The initial RV dimensions quantified by CT were significantly lower for the hypoplastic RV group than for the control group (p < 0.001). The types of final surgery performed in the hypoplastic RV group were univentricular repair in 46 patients, biventricular repair in 4 patients, or an indeterminate surgery in 7 patients.
Initial RV dimensions in infants with CHD and a hypoplastic RV can be quantified by CT and are substantially smaller than those in infants with tetralogy of Fallot.

Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS.
We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20 Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database.
We identified 28 CNVs in 17 cases; several encompassed genes important for right heart development. One case had a 2p16-2p23 duplication spanning LBH, a limb and heart development transcription factor. Lbh mis-expression results in right ventricular hypoplasia and pulmonary valve defects. This duplication also encompassed SOS1, a factor associated with pulmonary valve stenosis in Noonan syndrome. Sos1-/- mice display thin and poorly trabeculated ventricles. In another case, we identified a 1.5 Mb deletion associated with Williams-Beuren syndrome, a disorder that includes valvular malformations. A third case had a 24 Kb deletion upstream of the TGFβ ligand ITGB8. Embryos genetically null for Itgb8, and its intracellular interactant Band 4.1B, display lethal cardiac phenotypes.
To our knowledge, this is the first study of CNVs in HRHS. We identified several rare CNVs that overlap genes related to right ventricular wall and valve development, suggesting that genetics plays a role in HRHS and providing clues for further investigation. Birth Defects Research 109:16-26, 2017. © 2016 Wiley Periodicals, Inc.

We present the first reported case of truncus arteriosus, interrupted aortic arch with hypoplastic tricuspid valve and right ventricle and anomalous left coronary artery orifice in a neonate in whom successful palliation was performed using two-staged procedure. The first-stage palliation was the bilateral pulmonary artery band at age 2 days. The second-stage palliation was a Norwood procedure concomitant with ASD creation and patch augmentation of the pulmonary artery confluence at 22 days. The patient is doing well, with unobstructed aortic arch and mild truncal valve regurgitation.

Rubinstein-Taybi syndrome is a well-characterized condition causing distinctive physical characteristics, intellectual disability, and multiple congenital malformations. Cardiac abnormalities are found in a third of individuals with this condition and usually consist of isolated septal defects or patent ductus arteriosus, although more complex congenital lesions have been described. We present the first reported case of tricuspid atresia and pulmonary atresia with hypoplasia of the right ventricle in the setting of Rubenstein-Taybi syndrome.