heterotaxy syndrome

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: 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...

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...

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...

No abstract text is available yet for this article.

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...

No abstract text is available yet for this article.

BACKGROUND: We aimed to analyze mid-term outcomes of the fenestrated Fontan procedure, focusing on the fenestration size. METHODS: We retrospectively reviewed the outcomes of the fenestrated Fontan procedure. Among 165 patients who underwent the Fontan procedure from 2011 to 2021, fenestration was created in 27 patients with the highest risks, including those with hypoplastic left heart syndrome, hypoplastic pulmonary arteries, heterotaxy syndrome with high pulmonary vascular resistance, and pulmonary arterial pressure >15 mm Hg...

Several studies have suggested an inverse relationship between lower socioeconomic status (SES) and the incidence of congenital heart disease (CHD) among live births. We sought to examine this relationship further in a Canada-wide population study, exploring CHD subtypes, trends, and associated noncardiac abnormalities. Infants born in Canada (less Quebec) from 2008 to 2018 with CHD requiring intervention in the first year were identified using ICD-10 codes through the Canadian Institute for Health Information Discharge Abstract Database...

Developmental studies have shown that the evolutionarily conserved Wnt planar cell polarity (PCP) pathway is essential for the development of a diverse range of tissues and organs including the brain, spinal cord, heart and sensory organs as well as establishment of the left-right body axis. Germline mutations in the highly conserved PCP gene VANGL2 in humans have only been associated with central nervous system malformations and functional testing to understand variant impact has not been performed. Here we report three new families with missense variants in VANGL2 associated with heterotaxy and congenital heart disease p...

BACKGROUND: Primary ciliary dyskinesia (PCD) is a clinically heterogeneous group of autosomal or, less frequently, X-chromosomal recessive inheritance syndrome of motile cilia dysfunction characterized by neonatal respiratory distress, oto-sino-pulmonary disease, infertility and situs inversus. Recently, type 43 PCD (CILD43, OMIM#618699) was established by autosomal-dominant loss-of-function mutations identified in Forkhead box J1 ( FOXJ1 ). However, the functional validation of FOXJ1 mutations in humans and mice has not been fully performed...

OBJECTIVES: The current study aimed to determine the long-term surgical outcomes of patients with functional single ventricles associated with heterotaxy syndrome, risk factors for mortality, and factors associated with Fontan stage completion. METHODS: Overall, 279 patients with a functional single ventricle associated with heterotaxy syndrome who underwent an initial surgical procedure at our institute between 1978 and 2021 were grouped into four "eras" based on the surgical year at which the initial procedure was performed: era 1 (1978-1989, n = 71), era 2 (1990-1999, n = 98), era 3 (2000-2009, n = 64), and era 4 (2010-2021, n = 46)...

BACKGROUND: To explore the diagnostic clues and abnormality spectrum of heterotaxy syndrome by prenatal ultrasonography and postnatal verification. METHODS: The prenatal ultrasonic data of 88 heterotaxy syndrome fetuses were analyzed retrospectively as left isomerism (LI) and right isomerism (RI). Prenatal ultrasound compared with the anatomical casting of the fetal body after labor induction, and the confirmatory postnatal diagnosis after delivery. RESULTS: Fetal LI showed typical malformations of gastric vesicles on different sides from the heart, absence of hepatic segment of the inferior vena cava (IVC), abdominal aorta (AO) parallel with the azygos vein (AV), bilateral left bronchus, bilateral left atrial appendages, and polysplenia; intracardiac malformations of AV septal defects (AVSD), single atrium (SA), left ventricular outflow tract obstruction (LVOTO), and double-outlet right ventricle (DORV); and cardiac conduction abnormalities of sinus bradycardia and AV blockage...

KEY CLINICAL MESSAGE: A 26-year-old male patient admitted to the hospital ward with experience of repetitive syncopes for a year. The patient was diagnosed with sick sinus syndrome. The aim of this clinical report is to highlight the variability of anatomical findings associated with polysplenia pattern. ABSTRACT: This case report presents a 26-year-old male patient who presented to the medical ward with a complaint of repeating blackouts for a year. The patient was then diagnosed with sick sinus syndrome, and further investigations revealed left isomerism, polysplenia, and no congenital heart defects...

BACKGROUND: This study aimed to evaluate the results of sutureless repair of extracardiac total anomalous pulmonary venous connection (TAPVC) with a functional single ventricle at a single institution, including the changes in the anastomotic site over time. METHODS: Our database contained 98 patients with single-ventricular anatomy who underwent extracardiac TAPVC repair from 1996 to 2022. The median age and body weight at surgery were 59 days and 3.8 kg, respectively...