Heterotaxy

BACKGROUND: Ischemic stroke in young adults can be caused by a variety of etiologies including the monogenic disorders. Visceral heterotaxy is a condition caused by abnormal left-right determinations during embryonic development. We aimed to determine the cause of a young ischemic stroke patient with visceral heterotaxy. CASE PRESENTATION: We performed neurological, radiological, and genetic evaluations in a 17-year-old male patient presenting ischemic stroke and visceral heterotaxy to determine the underlying cause of this rare disease combination...

Heterotaxy syndrome (HS) occurs in developing embryos due to an inability to establish the normal anatomy, which manifests as abnormal symmetry and malposition of the thoracoabdominal viscera and vasculature, including cardiac and extracardiac anomalies. It is classified as right or left atrial isomerism. This classification depends on the atrial appendage morphology and the extracardiac defect associated with it. Right isomerism usually presents with right atrial appendages (RAA), asplenia, total anomalous pulmonary venous return, and severe pulmonary stenosis...

BACKGROUND: NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to cause laterality defects in humans. To further explore this association and improve genetic diagnosis, the study aims to identify and characterize a broader range of NODAL variants in a large number of individuals with laterality defects. METHODS: We re-analyzed a cohort of 321 proband-only exomes of individuals with clinically diagnosed laterality congenital heart disease (CHD) using family-based, rare variant genomic analyses...

To estimate if there is an association between partial AVSD with chromosomal abnormalities, cardiac and extracardiac malformations, and to report the outcomes of prenatally diagnosed AVSD in a large, contemporary cohort. This is a retrospective cohort study of 190 prenatally diagnosed fetal AVSD between 2014 and 2023. Type of AVSD (complete vs partial), additional cardiac findings, extracardiac findings, presence of a heterotaxy, results of prenatal karyotype, and pregnancy outcomes were documented and analyzed...

BACKGROUND: Heterotaxy syndrome (HS) is a defect in lateralization which often results in complex intra and extracardiac abnormalities. Orthotropic heart transplantation (OHT) in HS involves intricate and individualized modifications to surgical technique. Post-OHT outcomes are worse in patients with HS, however, the impact of post-OHT residual lesions has not yet been characterized. METHODS: Patients with HS who underwent OHT at Ann & Robert H. Lurie Children's Hospital of Chicago between January 2012 and June 2023 were identified...

Genetic testing with exome sequencing and genome sequencing is increasingly offered to infants and children with cardiovascular diseases. However, the rates of positive diagnoses after genetic testing within the different categories of cardiac disease and phenotypic subtypes of congenital heart disease (CHD) has been little studied. We report the diagnostic yield after next-generation sequencing in 500 patients with CHD from diverse population subgroups that were enrolled at three different sites in the Clinical Sequencing Evidence-Generating Research consortium...

BACKGROUND AND AIMS: Syndromic biliary atresia is a cholangiopathy characterized by fibro-obliterative changes in the extrahepatic bile duct (EHBD) and congenital malformations including laterality defects. The aetiology remains elusive and faithful animal models are lacking. Genetic syndromes provide important clues for underlying pathogenic mechanisms of disease. We investigated the role of the gene Pkd1l1 in syndromic biliary atresia pathophysiology. METHODS: Constitutive and conditional Pkd1l1 knockout mice were generated to explore genetic pathology as a cause of syndromic biliary atresia...

PURPOSE: Our aim in this study was to investigate the prenatal and postnatal prognosis of double outlet right ventricle (DORV) cases diagnosed prenatally by analyzing the outcomes based on the subtype. METHODS: This study is a retrospective chart review. Cases diagnosed with fetal DORV by prenatal ultrasound in the maternal-fetal medicine department of our hospital between 2014 and 2022 were included. Data on maternal characteristics, fetal echocardiographic features (type of DORV), pregnancy and neonatal outcomes (termination of pregnancy [TOP], intrauterine fetal death [IUD], neonatal death [NND], death in infancy (IND), survival) were collected and analyzed...

BACKGROUND: Situs inversus is a rare congenital condition, defined by the mirror-image transposition of the abdominothoracic organs. It is linked to an increased risk of different disorders, for example, congenital heart defects and primary ciliary dyskinesia. Recently, some reports have been on the increased incidence of situs inversus after the COVID-19 pandemic. OBJECTIVES: To investigate the association between maternal COVID-19 infection and fetal situs inversus occurrence risk...

Complex congenital heart disease is often accompanied by extracardiac manifestations; , the significance of genitourinary involvement remains unclear. We present 3 patients with palliated complex congenital heart disease and with pregnancies complicated by premature delivery who were found to have congenital uterine anomalies that may have contributed to their obstetrical complications.

We report a case of a 25-year-old male with a heterotaxy-like constellation of congenital heart defects consisting of complete atrioventricular septal defect, transposition of the great arteries, subpulmonary stenosis, L-looped ventricles, hypoplastic right ventricle, and a distant aorta arising from the right ventricle. This case demonstrates how 3D printing and interactive 3D visualization may facilitate a unique surgical repair.

OBJECTIVE: Image quality of fetal echocardiography (FE) has improved in the recent era, but few recent studies have reported the accuracy of FE specifically in single ventricle congenital heart disease (SV). Our study aims to assess the ability of FE to correctly predict postnatal anatomy and physiology in SV in a contemporary cohort. METHODS: The contemporary, clinical reports of FE with SV performed from 7/2017 to 7/2021 were compared with postnatal echocardiograms in a formal quality assurance program...

Reciprocal impulses of junctional origin were seen in a patient with left isomerism who had undergone Kawashima repair in infancy. Heterotaxy syndromes are associated with disturbances in sinus node function. Junctional rhythm is hence common in this group. Junctional rhythm can conduct both anterogradely, to the ventricles, and retrogradely, back to the atrium. When it conducts retrogradely, it is termed as atrial echo, which can further conduct back to the ventricle. Our patient had a junctional rhythm with atrial echo beats that conduct to the ventricle, along with an ectopic atrial focus that does not conduct to the ventricle...

Congenital portosystemic shunts may result in the development of hepatopulmonary syndrome, typically presenting with progressive hypoxemia in later childhood. We describe a case of a 5-month-old male with heterotaxy with polysplenia presenting with new onset hypoxemia. Subsequent evaluation identified an extrahepatic portosystemic shunt arising from the confluence of the main portal and superior mesenteric veins draining into the left renal vein. To treat his hypoxemia and prevent future complications of shunting, the patient underwent a successful single-stage endovascular closure...

This study aims to define the associated anomalies with PLSVC, and to compare single PLSVC and bilateral superior vena cava in terms of accompanying anomalies and pregnancy outcomes. This was a retrospective study of the fetuses diagnosed with single and/or bilateral SVC at a tertiary fetal medicine center during 8 years. We detected 16 cases of single PLSVC and 84 cases of bilateral SVC. We found an association between the PLSVC and cardiac and extracardiac anomalies. Comparison between single PLSVC and BSVC cases revealed significant differences in the occurrence of heterotaxy and right isomerism...

Vertical vein (VV) ligation during total anomalous pulmonary venous return (TAPVR) repair is controversial. While some surgeons prefer ligation of the VV to prevent adverse sequelae of shunting across it and to promote flow through the newly created anastomosis, others leave it to serve as a "pop off valve" to the left heart structures, which are believed to be hypoplastic and noncompliant, presumably contributing to a more favorable post-operative outcome. We report two patients post-Fontan procedure, who underwent cardiac catheterization to explore the etiology of hypoxia and were found to have a persistent VV responsible for right to left shunting...

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare disorder of motile cilia associated with situs abnormalities. At least 12% of patients with PCD have situs ambiguus (SA), including organ laterality defects falling outside normal arrangement [situs solitus (SS)] or mirror image inversion [situs inversus totalis (SIT)]. RESEARCH QUESTION: Do patients with PCD and SA have worse clinical outcomes compared to those with SS or SIT? STUDY DESIGN AND METHODS: This cross-sectional, multicenter study evaluated participants ≤21 years with PCD...

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Congenital portosystemic shunts are rare vascular malformations in which portal venous blood from the intestines and spleen bypasses the liver and diverts directly into the systemic circulation through abnormal vessels. We report a case of a 4-year-old girl with heterotaxy syndrome, polysplenia, and situs inversus presenting with persistent hypoxemia who was found to have pulmonary arteriovenous malformations (PAVMs) and hypoxemia secondary to a congenital portosystemic shunt. Management of this patient's PAVMs involved endovascular occlusion of the portosystemic shunt with subsequent resolution of hypoxemia...

Heterotaxy syndrome is a disease of embryo development resulting in abnormal distribution of thoracic and abdominal organs across the left-right axis. In this case, A 77-year-old gentleman was admitted with gastric outlet obstruction secondary to cholangiocarcinoma. This is on a background of heterotaxy syndrome, specifically situs ambiguus . The patient's anatomical variations included a right-sided stomach, midline liver, and asplenia. Due to variant anatomy and risk of aspiration; endoscopy was abandoned in favor of surgical bypass via a gastrojejunostomy...