Heterotaxy Syndrome

Abnormal thoracoabdominal VISCERA arrangement (visceral heterotaxy) or malformation that involves additional CONGENITAL HEART DEFECTS (e.g., heart isomerism; DEXTROCARDIA) and/or abnormal SPLEEN (e.g., asplenia and polysplenia). Irregularities with the central nervous system, the skeleton and urinary tract are often associated with the syndrome.

Also Known As:

Asplenia Syndrome; Asplenia with Cardiovascular Anomalies; Ivemark Syndrome; Left Atrial Isomerism; Left Atrial Isomerism with Polysplenia; Polysplenia Syndrome; Right Atrial Isomerism; Right Atrial Isomerism with Asplenia; Situs Ambiguus; Situs Ambiguus Viscerum; Situs Ambiguus with Asplenia; Situs Ambiguus with Polysplenia; Visceral Heterotaxy; Ambiguus Viscerum, Situs; Ambiguus Viscerums, Situs; Ambiguus, Situs; Asplenia Syndromes; Atrial Isomerism, Left; Atrial Isomerism, Right; Atrial Isomerisms, Left; Atrial Isomerisms, Right; Heterotaxies, Visceral; Heterotaxy Syndromes; Heterotaxy, Visceral; Isomerism, Left Atrial; Isomerism, Right Atrial; Isomerisms, Left Atrial; Isomerisms, Right Atrial; Left Atrial Isomerisms; Polysplenia Syndromes; Right Atrial Isomerisms; Situs Ambiguus Viscerums; Syndrome, Asplenia; Syndrome, Heterotaxy; Syndrome, Ivemark; Syndrome, Polysplenia; Syndromes, Asplenia; Syndromes, Heterotaxy; Syndromes, Polysplenia; Visceral Heterotaxies; Viscerum, Situs Ambiguus; Viscerums, Situs Ambiguus

Networked: 205 relevant articles (5 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Congenital Heart Defects (Congenital Heart Defect)
2.	Tobacco Use Disorder (Nicotine Dependence)
3.	Congenital Abnormalities (Deformity)
4.	Biliary Atresia
5.	Heterotaxy Syndrome

Experts

1.	Ohuchi, Hideo: 4 articles (08/2021 - 10/2011)
2.	Cetta, Frank: 3 articles (01/2022 - 12/2006)
3.	Ide, Yujiro: 3 articles (01/2021 - 02/2010)
4.	Sakamoto, Kisaburo: 3 articles (01/2021 - 02/2010)
5.	Kagisaki, Koji: 3 articles (03/2015 - 08/2009)
6.	Miyazaki, Aya: 3 articles (03/2015 - 10/2011)
7.	Yamada, Osamu: 3 articles (03/2015 - 10/2011)
8.	Horigome, Hitoshi: 3 articles (12/2013 - 03/2010)
9.	Talwar, Sachin: 3 articles (01/2010 - 08/2005)
10.	Ziemer, Gerhard: 3 articles (05/2008 - 09/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Heterotaxy Syndrome:

1.	Tretinoin (Retinoic Acid)FDA LinkGeneric 01/01/1998 - "To investigate the morphogenetic process of visceroatrial heterotaxy syndrome, we examined retinoic acid-treated mouse embryos at embryonic days 9-15 using scanning electron microscopy. " 08/01/1995 - "The purpose of the present study is to analyze the incidence and pattern of heterotaxy syndrome in etretinate and all-tran retinoic acid treated pregnant DDY mice. "
2.	Proteins (Proteins, Gene)FDA Link 10/01/2011 - "Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes. " 04/01/2012 - "Mutations in Zinc Finger Protein of the Cerebellum 3 and Activin A Receptor Type IIB were identified in 4 of the 47 patients with heterotaxy syndrome for a yield of approximately 8.5%. "
3.	Connexin 43 (Connexin43)IBA 09/01/2000 - "A previous study by Britz-Cunningham et al (N Engl J Med, 1995) indicated that a mutation of the connexin 43 (CX43) gap junction gene might be responsible for Ivemark syndrome. " 09/01/2000 - "The results indicate that Ser364Pro mutation of CX43 did not exist in the 10 Taiwanese patients with Ivemark syndrome. " 09/01/2000 - "No base changes were found in the patients with Ivemark syndrome or other patient groups at the previously reported CX43 residues of Thr326, Gln352, Ser364, Ser365 and Ser373. " 09/01/2000 - "Does Ser364Pro mutation of connexin 43 exist in Taiwanese patients with Ivemark syndrome?"
4.	TeratogensIBA 07/01/2016 - "This study identified follitropin-alfa and drugs used in nicotine dependence as possible teratogens of heterotaxy syndrome. "
5.	Propylthiouracil FDA Link 07/01/2016 - "Recent studies reported an association between prenatal propylthiouracil exposure and birth defects, including abnormal arrangement across the left-right body axis, suggesting an association with heterotaxy syndrome. "
6.	Etretinate FDA Link 08/01/1995 - "The incidence of visceral heterotaxy was highest in the etretinate 15 mg/kg treated group on day 7 of gestation (38.5%). " 08/01/1995 - "The purpose of the present study is to analyze the incidence and pattern of heterotaxy syndrome in etretinate and all-tran retinoic acid treated pregnant DDY mice. "
7.	BariumIBA 09/01/2007 - "Some advocate that all patients with heterotaxy, especially those with isomerism of the right atrial appendages or asplenia syndrome, should have a barium study to evaluate for intestinal malrotation, given the associated potential morbidity. "
8.	follitropin alfa (Gonal F)FDA Link 07/01/2016 - "We found an association between heterotaxy syndrome and prenatal drug exposure to follitropin-alfa (5.6% vs. 1.1%; p = 0.04), and drugs used in nicotine dependence (3.7% vs. 0.2%; p = 0.02). " 07/01/2016 - "This study identified follitropin-alfa and drugs used in nicotine dependence as possible teratogens of heterotaxy syndrome. "
9.	Radioisotopes (Radionuclides)IBA 01/01/1994 - "We evaluated the splenic status of five consecutive patients with heterotaxy syndrome by radionuclide splenic scanning with 99mTc-labelled and denatured red blood cells (RBCs) and by real-time abdominal ultrasonography. " 11/01/1979 - "Radionuclide imaging with the new generation of hepatobiliary agents is a reliable method to document asplenia and is useful in studying patients with visceral heterotaxy." 05/01/1973 - "Splenic scintigraphy and radionuclide venography in the heterotaxy syndrome." 12/01/1982 - "Incidental discovery of asplenia syndrome, with situs inversus and a normal heart by radionuclide biliary imaging. " 09/01/1987 - "Radionuclide angiography of azygos continuation of inferior vena cava in left atrial isomerism (polysplenia syndrome)."
10.	Sodium Channel BlockersIBA 12/01/2013 - "A 15-year-old boy with heterotaxy syndrome developed a prolonged QT interval and intractable torsade de pointes after the administration of sodium channel blockers for atrial tachyarrhythmia. " 11/01/2012 - "We present a child case of heterotaxy syndrome (asplenia syndrome) after Fontan procedure that showed extreme prolongation of QT interval and torsade de pointes (TdP) after administration of sodium channel blockers for paroxysmal atrial tachycardia. "

Therapies and Procedures

1.	Fontan Procedure (Fontan Operation) 09/01/1992 - "Although the mortality rate has improved for patients without this syndrome undergoing the Fontan procedure, it remains high for patients with heterotaxy syndrome. " 08/01/1988 - "We conclude: (1) The Fontan operation for patients with asplenia or polysplenia syndromes has resulted in a significant (although recently declining) mortality; (2) mortality is higher in patients with asplenia; (3) patients with atrioventricular valve insufficiency requiring repair or replacement are at higher risk; and (4) intraatrial conduits seem to offer promise for successfully accomplishing this repair." 09/01/1992 - "This study suggests that the outcome of the Fontan procedure in patients with heterotaxy syndrome may be improved by early protection of the pulmonary vascular bed, despite the existence of other cardiac anomalies." 10/01/2006 - "We studied whether the outcome of those patients with heterotaxy syndrome improved compared with those who did not have the syndrome after an extracardiac Fontan operation. " 07/01/2003 - "The Fontan procedure was associated with an improved functional class (P<0.005) and all current survivors (n=99) are in either New York Heart Association classes I or II. Multivariate analysis identified left atrial isomerism as the single risk factor for death (P<0.05). "
2.	Critical Care (Surgical Intensive Care) 10/01/2015 - "A session dedicated to heterotaxy syndrome was included in the program of the Tenth International Conference of the Pediatric Cardiac Intensive Care Society in Miami, Florida in December 2014. " 07/01/2012 - "We discuss how even the care of the complex cardiac and non-cardiac anomalies seen in heterotaxy syndrome, which have long seemed impervious to advancements in surgical and medical intensive care, may yet yield to strategies grounded in a better understanding of the cilium. " 01/01/2019 - "Recent progress in surgical and intensive care has improved the prognosis of congenital heart disease (CHD) associated with heterotaxy syndrome. "
3.	Right Heart Bypass (Cavopulmonary Anastomosis) 04/01/2011 - "The object of our study was to analyze the results of bidirectional cavopulmonary anastomosis (BCPA) and modified Fontan operations (MFO) in patients with a functionally single ventricle and heterotaxy syndrome and to reveal risk factors for these surgical interventions. " 05/01/2008 - "Late desaturation due to collateral veins 10 years after total cavopulmonary shunt in left atrial isomerism: surgical closure." 02/01/1995 - "Of the three cases identified, two were isomeric, one with left atrial isomerism and hemiazygos continuation of the inferior vena cava who underwent bilateral bidirectional Glenn anastomoses and one with right isomerism who underwent total cavopulmonary anastomosis. " 04/01/2011 - "Experience with bidirectional cavopulmonary anastomosis and modified Fontan operation in patients with single ventricle and concomitant visceral heterotaxy." 08/04/2011 - "Because the RV was too small for a biventricular repair to be performed, the patient underwent a total cavopulmonary shunt operation although his heart was biventricular and a pacemaker (VVI) had been implanted for management of the sick sinus syndrome complicated by polysplenia syndrome. "
4.	Liver Transplantation 03/27/2001 - "Liver transplantation in Polysplenia syndrome." 10/27/1999 - "Liver transplantation in polysplenia syndrome: use of a living-related donor." 01/01/2000 - "Absence of the portal vein and polysplenia syndrome is not a contraindication for liver transplantation although an increased post-operative morbidity may be expected." 05/31/2021 - "She was diagnosed with biliary atresia-polysplenia syndrome, and thus underwent living donor liver transplantation from her mother at 9 months of age. " 12/31/2020 - "Pediatric split liver transplantation in a patient with biliary atresia polysplenia syndrome and agenesis of inferior vena cava."
5.	Cardiopulmonary Bypass (Heart-Lung Bypass) 01/01/2022 - "Pre- and intra-operative data showed a higher incidence of heterotaxy syndrome, longer cardiopulmonary bypass and aortic cross-clamp time in the prolonged recovery group. " 01/01/2013 - "Hepatic venous occlusion during cardiopulmonary bypass in patients with heterotaxy syndrome: a safe but underutilized option." 04/01/2004 - "In the multivariable analysis, cardiopulmonary bypass time of more than 120 min, atrioventricular valvar replacement, and banding of the pulmonary trunk prior to the total cavopulmonary connection, all reached statistical significance for early death, whereas only heterotaxy syndrome remained as the sole risk factor for late death. " 09/01/2001 - "The log-rank test demonstrated that heterotaxy syndrome, moderate to severe atrioventricular valve regurgitation, prolonged cardiopulmonary bypass time (240 min or longer), and prolonged aortic cross clamp time (70 min or longer) were associated with late mortality after TCPC. " 07/01/2001 - "Two infants with asplenia syndrome and pulmonary venous obstruction underwent repair of total anomalous pulmonary venous connection without cardiopulmonary bypass in 1988. "