Heterotaxy-asplenia syndrome

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BACKGROUND Heterotaxy is a syndrome of abnormal arrangement of the internal thoracic-abdominal structures across the left-right axis of the body. It is a primary disorder with 2 main settings - bilateral left sidedness (polysplenia syndrome) or right sidedness (asplenia syndrome) - although some overlapping or uncertainties may occur. Patients with right heterotaxy typically present with asplenia, complex heart disease, and other thoracoabdominal organ situs abnormalities. CASE REPORT We present a unique case of congenital asplenia syndrome with complex heart disease, annular pancreas, and other extra-heterotaxic anomalies (e...

We report an unusual case of a 15-month old previously healthy girl who died of pneumococcal septicemia in the background of visceral heterotaxy with polysplenia. Heterotaxy can also present with asplenia whereas polysplenia cases usually present with functional asplenia. Of particular note, this girl received the 13-valent pneumococcal conjugate vaccine as recommended by the Centers for Disease Control and Prevention in the routine pediatric immunization schedule used in the USA and Canada. Unfortunately, although the strain causing death (serotype 22F) is not contained in Prevnar 13®, it is in the 23-valent pneumococcal polysaccharide vaccine (e...

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A life of professional caring, research, teaching, and inspiration-this is the legacy of Dr Stella Zacharioudaki Van Praagh, MD. Among her many outstanding contributions, only a few are recorded here: (1) a new surgical operation for closing apical muscular ventricular septal defects, (2) a newly discovered form of anomalous pulmonary venous drainage and its surgical repair, (3) a new understanding of sinus venosus defects and their surgical repair, (4) the realization that the concept of atrial-level isomerism (mirror-imagery) in the heterotaxy syndromes of asplenia, polysplenia, and single right-sided spleen is erroneous, (5) the understanding that it is possible to diagnose the atrial situs in the majority of cases of the heterotaxy syndromes, and (6) the fact that the concepts of evolution, natural selection, and survival of the fittest were described by Empedocles, an ancient Greek philosopher, in the fifth century bc, and that these concepts were not discovered and published for the first time by Charles Darwin and Alfred Russell Wallace in the 19th century (1858 ad)...

BACKGROUND: Heterotaxy syndrome (HS) is a group of congenital disorders characterized by abnormal arrangement of thoraco-abdominal organs across the left-right axis of the body, classified as right (RAI) and left atrial isomerism (LAI)·We investigated the long-term survival and phenotypic spectrum in our HS cohort. Results are compared to literature data. METHODS: This is a single centre, observational, both retro and prospective study. Cardiac features, surgical management and abdominal ultrasound (US) of all HS patients were reviewed or investigated if missing...

Objective: To explore the clinical characteristics of interrupted of the inferior vena cava with azygous continuation and the prognosis. Methods: Retrospective analysis of 21 fetuses diagnosed with interrupted inferior vena cava with azygous continuation among 28 567 pregnant women who underwent routine ultrasound scan. The clinical data, ultrasonographic features, genetic information and prognosis were collected. Results: Interrupted of the inferior vena cava with azygous continuation occurred in 21(0.07%, 21/28 567) of 28 567 patients...

Background: Heterotaxy syndrome (HS) is characterized by a wide variety of cardiac and extra-cardiac malformations, including pulmonary valve stenosis, interruption of the inferior vena cava, total anomalous pulmonary venous connection (TAPVC), asplenia, polysplenia, intestinal malrotation, and preduodenal portal vein (PDPV). We report the case of a heterotaxic infant with an infracardiac TAPVC and preduodenal portal vein who experienced repetitive hemodynamic instability during urgent laparotomy for duodenal obstruction...

BACKGROUND: Laterality disorders of the abdominal organs include situs inversus totalis that mirrors the arrangements of all internal organs and heterotaxy syndrome (situs ambiguus) in which the thoracic or abdominal organs are abnormally arranged. Heterotaxy is often accompanied by multiple congenital malformations, and it generally comprises asplenia and polysplenia syndromes. To our knowledge, polysplenia syndrome has been reported in only three cattle, and computerized tomographic (CT) images of these animals were not obtained...

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Ivemark syndrome or right atrial isomerism is a rare syndrome of asplenia / hyposplenia with malformation of heart and abnormal arrangement of internal organs of chest and abdomen and is classified under heterotaxy disorder. We describe here the case of a 14 year old boy diagnosed with asplenia, dextrocardia with double outlet right ventricle and midline liver.

BACKGROUND: There is a known high prevalence of genetic and clinical syndrome diagnoses in the paediatric cardiac population. These disorders often have multisystem effects, which may have an important impact on neurodevelopmental outcomes. Taken together, these facts suggest that patients and families may benefit from consultation by genetic specialists in a cardiac neurodevelopmental clinic. OBJECTIVE: This study assessed the burden of genetic disorders and utility of genetics evaluation in a cardiac neurodevelopmental clinic...

OBJECTIVES: To compare the differences of visceral anomalies shown by computed tomography (CT) in patients with polysplenia syndrome (PS) or asplenia syndrome (AS). METHODS: This retrospective study was approved by the institutional review board, and informed consent was waived. Thirty-one patients with PS and 29 patients with AS underwent chest-abdominal CT. The evaluated CT findings were as follows: the orientation of stomach, liver and gallbladder; short pancreas; azygous/hemiazygous continuation; ipsilateral position of the inferior vena cava and aorta; preduodenal portal vein; abnormal confluence of renal vein (defined as renal vein drains to the inferior vena cava or azygous/hemiazygous vein at the upper level of celiac trunk origin); gastrointestinal malrotation; and tracheobronchial tree...

BACKGROUND: Total anomalous pulmonary venous connection (TAPVC) is prevalent in patients with atriovisceral heterotaxy. Although functionally univentricular heart defects are common in heterotaxy syndromes, the extent to which this association influences overall risk for TAPVC repair is undefined. This study examines multiinstitutional experience with TAPVC repair in infants with heterotaxy using a national clinical registry. METHODS: The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) (2002-2012) was queried for patients with heterotaxy syndrome who underwent TAPVC repair, with or without concomitant procedures at age of 90 days or younger...

OBJECTIVE: To assess the incidence and impact of extracardiac anomalies on the prognosis of fetuses with heterotaxy syndrome. METHODS: All fetuses diagnosed with heterotaxy syndrome by three experienced examiners over a period of 14 years (1999-2013) were reviewed retrospectively. RESULTS: In total, 165 fetuses with heterotaxy syndrome were diagnosed in the study period. One hundred and fifty (90.9%) had cardiac defects; extracardiac anomalies that did not involve the spleen were present in 26/165 (15...

It is well recognized that the patients with the most complex cardiac malformations are those with so-called visceral heterotaxy. At present, it remains a fact that most investigators segregate these patients on the basis of their splenic anatomy, describing syndromes of so-called asplenia and polysplenia. It has also been known for quite some time, nonetheless, that the morphology of the tracheobronchial tree is usually isomeric in the setting of heterotaxy. And it has been shown that the isomerism found in terms of bronchial arrangement correlates in a better fashion with the cardiac anatomy than does the presence of multiple spleens, or the absence of any splenic tissue...

Patients with the autoimmune polyendocrine syndrome type I (APS-I), caused by mutations in the autoimmune regulator (AIRE) gene, and myasthenia gravis (MG) with thymoma, show intriguing but unexplained parallels. They include uncommon manifestations like autoimmune adrenal insufficiency (AI), hypoparathyroidism, and chronic mucocutaneous candidiasis plus autoantibodies neutralizing IL-17, IL-22, and type I IFNs. Thymopoiesis in the absence of AIRE is implicated in both syndromes. To test whether these parallels extend further, we screened 247 patients with MG, thymoma, or both for clinical features and organ-specific autoantibodies characteristic of APS-I patients, and we assayed 26 thymoma samples for transcripts for AIRE and 16 peripheral tissue-specific autoantigens (TSAgs) by quantitative PCR...

Exome sequencing enables us to screen most of the protein coding genes in an unbiased way, this technique represents an ideal tool to identify previously under- or unappreciated phenotypes associated with known disease genes and genetic disorders. Here we present an illustrative case that required exome sequencing to identify a genetic alteration associated with the clinical features. The phenotype of the proband included heterotaxy, double outlet right ventricle, common atrioventricular canal, total anomalous pulmonary venous connection, asplenia, failure to thrive and short stature...

Patients with heterotaxy syndrome (HS) have a range of anomalies and outcomes. There are limited data on perinatal outcomes after prenatal diagnosis. To determine the factors influencing perinatal and infant outcomes, we analyzed prenatal and postnatal variables in fetuses with HS from 1995 to 2011. Of 154 fetuses with HS, 61 (40%) had asplenia syndrome (ASP) and 93 (60%) had polysplenia syndrome (PSP). In the ASP group, 22 (36%) patients were elected for termination of pregnancy, 4 (10%) had fetal death, and 35 of 39 (90%) continued pregnancies were live born...

The transcription factor steroidogenic factor 1 (SF-1; also known as NR5A1) is a crucial mediator of both steroidogenic and nonsteroidogenic tissue differentiation. Mutations within SF1 underlie different disorders of sexual development (DSD), including sex reversal, spermatogenic failure, ovarian insufficiency, and adrenocortical deficiency. Here, we identified a recessive mutation within SF1 that resulted in a substitution of arginine to glutamine at codon 103 (R103Q) in a child with both severe 46,XY-DSD and asplenia...