Heterotaxy is a rare condition involving abnormal arrangement of organs across the left-right axis of the body. It is associated with variable morphological and functional impairments of multiple organ systems and significant morbidity and mortality. Optimal patient care and innovative research require consistent definitions, standardized multidisciplinary practice guidelines, local clinical champions, and a centralized national registry. The Heterotaxy Research and Clinical Care Collaborative and Heterotaxy Connection conducted a virtual scientific conference for expert clinicians, scientists, patients, and families, to discuss state-of-the-art knowledge and establish networks to promote and improve heterotaxy research and clinical care.
SabaTGGeddesGCWareSM, et al.A multi-disciplinary, comprehensive approach to management of children with heterotaxy. Orphanet J Rare Dis. 2022;17(1):351. doi:10.1186/s13023-022-02515-2
2.
LinAEKrikovSRiehle-ColarussoT, et al.Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology. Am J Med Genet A. 2014;164A(10):2581-2591. doi:10.1002/ajmg.a.36695
3.
Van PraaghRVan PraaghS. Atrial isomerism in the heterotaxy syndromes with asplenia, or polysplenia, or normally formed spleen: an erroneous concept. Am J Cardiol. 1990;66(20):1504-1506. doi:10.1016/0002-9149(90)90543-a
4.
MahleWTMarxGRAndersonRH. Anatomy and echocardiography of discordant atrioventricular connections. Cardiol Young. 2006;16(Suppl 3):65-71. doi:10.1017/s1047951106000783
5.
YimDNagataHLamCZ, et al.Disharmonious patterns of heterotaxy and isomerism: how often are the classic patterns breached?Circ Cardiovasc Imaging. 2018;11(2):e006917. doi:10.1161/CIRCIMAGING.117.006917
6.
SandersSPGevaT. Classifying heterotaxy syndrome: time for a new approach. Circ Cardiovasc Imaging. 2018;11(2):e007490. doi:10.1161/CIRCIMAGING.118.007490
7.
BankaPAdarASchaetzleBSleeperLAEmaniSGevaT. Changes in prognosis of heterotaxy syndrome over time. Pediatrics. 2020;146(2):e20193345. doi: 10.1542/peds.2019-3345
8.
BrodaCRSalciccioliKBLopezKNErmisPRMoodieDSDickersonHA. Outcomes in adults with congenital heart disease and heterotaxy syndrome: a single-center experience. Congenit Heart Dis. 2019;14(6):885-894. doi:10.1111/chd.12856
9.
FeinsENO'LearyETHogansonDM, et al.Intraoperative conduction mapping in complex congenital heart surgery. JTCVS Tech. 2022;12:159-163. doi:10.1016/j.xjtc.2021.11.017
10.
ShapiroAJDavisSDPolineniD, et al.Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society Clinical Practice guideline. Am J Respir Crit Care Med. 2018;197(12):e24-e39. doi:10.1164/rccm.201805-0819ST
11.
NakhlehNFrancisRGieseRA, et al.High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation. 2012;125(18):2232-2242. doi:10.1161/CIRCULATIONAHA.111.079780
12.
GarrodASZahidMTianX, et al.Airway ciliary dysfunction and sinopulmonary symptoms in patients with congenital heart disease. Ann Am Thorac Soc. 2014;11(9):1426-1432. doi:10.1513/AnnalsATS.201405-222OC
13.
AdamsPSCorcoranTELinJHWeinerDJSanchez-de-ToledoJLoCW. Mucociliary clearance scans show infants undergoing congenital cardiac surgery have poor airway clearance function. Front Cardiovasc Med. 2021;8:652158. doi:10.3389/fcvm.2021.652158
14.
CullisPSSiminasSSalimAJohnsonRLostyPD. Heterotaxy and intestinal rotation anomalies: 20 years experience at a UK regional paediatric surgery centre. Pediatr Surg Int. 2015;31(12):1127-1131. doi:10.1007/s00383-015-3755-3
15.
LandischRAbdel-HafeezAHMassoumiRChristensenMShillingfordAWagnerAJ. Observation versus prophylactic Ladd procedure for asymptomatic intestinal rotational abnormalities in heterotaxy syndrome: a systematic review. J Pediatr Surg. 2015;50(11):1971-1974. doi:10.1016/j.jpedsurg.2015.08.002
16.
SenSDuchonJLamplBAspelundGBachaEKrishnamurthyG. Heterotaxy syndrome infants are at risk for early shunt failure after Ladd procedure. Ann Thorac Surg. 2015;99(3):918-925. doi:10.1016/j.athoracsur.2014.09.077
17.
HarpavatSGarcia-PratsJAAnayaC, et al.Diagnostic yield of newborn screening for biliary atresia using direct or conjugated bilirubin measurements. JAMA. 2020;323(12):1141-1150. doi:10.1001/jama.2020.0837
18.
Deya-MartinezAFlinnAMGenneryAR. Neonatal thymectomy in children-accelerating the immunologic clock?J Allergy Clin Immunol. 2020;146(2):236-243. doi:10.1016/j.jaci.2020.02.028
19.
LentiMVLuuSCarsettiR, et al.Asplenia and spleen hypofunction. Nat Rev Dis Primers. 2022;8(1):71. doi:10.1038/s41572-022-00399-x
20.
ShaoPLChenMYWuMHWangJKHuangLMChiuSN. Nosocomial severe bacterial infection after cardiac surgery for complex congenital heart disease in heterotaxy syndrome. Pediatr Infect Dis J. 2020;39(8):e163-e168. doi:10.1097/INF.0000000000002672
21.
ChiuSNShaoPLWangJK, et al.Severe bacterial infection in patients with heterotaxy syndrome. J Pediatr. 2014;164(1):99-104.e1. doi:10.1016/j.jpeds.2013.08.051
22.
GottschalkIStressigRRitgenJ, et al.Extracardiac anomalies in prenatally diagnosed heterotaxy syndrome. Ultrasound Obstet Gynecol. 2016;47(4):443-449. doi:10.1002/uog.14871
