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Heterotaxy syndrome with asplenia

MedGen UID:
768728
•Concept ID:
C3640088
•
Disease or Syndrome
Synonym: Heterotaxy Syndrome with Asplenia

Definition

A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; in this manifestation of the disorder, the spleen is absent. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHeterotaxy syndrome with asplenia

Professional guidelines

PubMed

The development of a quality improvement project to improve infection prevention and management in patients with asplenia or hyposplenia.
O'Neill NE, Baker J, Ward R, Johnson C, Taggart L, Sholzberg M
BMJ Open Qual 2020 Aug;9(3) doi: 10.1136/bmjoq-2019-000770. PMID: 32759171Free PMC Article
Bacteremia in Patients with Heterotaxy: A Review and Implications for Management.
Loomba RS, Geddes GC, Basel D, Benson DW, Leuthner SR, Hehir DA, Ghanayem N, Shillingford AJ
Congenit Heart Dis 2016 Dec;11(6):537-547. Epub 2016 Jul 18 doi: 10.1111/chd.12395. PMID: 27425254
Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia).
Escobar-Diaz MC, Friedman K, Salem Y, Marx GR, Kalish BT, Lafranchi T, Rathod RH, Emani S, Geva T, Tworetzky W
Am J Cardiol 2014 Aug 15;114(4):612-7. Epub 2014 Jun 6 doi: 10.1016/j.amjcard.2014.05.042. PMID: 24996551Free PMC Article

Recent clinical studies

Etiology

A multi-disciplinary, comprehensive approach to management of children with heterotaxy.
Saba TG, Geddes GC, Ware SM, Schidlow DN, Del Nido PJ, Rubalcava NS, Gadepalli SK, Stillwell T, Griffiths A, Bennett Murphy LM, Barber AT, Leigh MW, Sabin N, Shapiro AJ
Orphanet J Rare Dis 2022 Sep 9;17(1):351. doi: 10.1186/s13023-022-02515-2. PMID: 36085154Free PMC Article
Fontan Palliation in Patients with Heterotaxy Syndrome: A Five Decade Experience.
Stephens EH, Graham G, Dearani JA, Niaz T, Cetta F
World J Pediatr Congenit Heart Surg 2022 Jul;13(4):436-442. doi: 10.1177/21501351221099944. PMID: 35757949
Blood reservoir function in patients with Fontan circulation and asplenia syndrome.
Fuse M, Sugamoto K, Kuwata S, Sekiya R, Kawada K, Toki M, Kaneko M, Iwamoto Y, Ishido H, Masutani S, Kenmochi M, Saiki H, Senzaki H
Cardiol Young 2019 Aug;29(8):1016-1019. Epub 2019 Jun 21 doi: 10.1017/S104795111900129X. PMID: 31221238
Bacteremia in Patients with Heterotaxy: A Review and Implications for Management.
Loomba RS, Geddes GC, Basel D, Benson DW, Leuthner SR, Hehir DA, Ghanayem N, Shillingford AJ
Congenit Heart Dis 2016 Dec;11(6):537-547. Epub 2016 Jul 18 doi: 10.1111/chd.12395. PMID: 27425254
Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome.
Mishra S
Indian J Pediatr 2015 Dec;82(12):1135-46. Epub 2015 Nov 26 doi: 10.1007/s12098-015-1925-x. PMID: 26612104

Diagnosis

Ivemark Syndrome.
Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I
J Assoc Physicians India 2016 May;64(5):73-75. PMID: 27735157
Bacteremia in Patients with Heterotaxy: A Review and Implications for Management.
Loomba RS, Geddes GC, Basel D, Benson DW, Leuthner SR, Hehir DA, Ghanayem N, Shillingford AJ
Congenit Heart Dis 2016 Dec;11(6):537-547. Epub 2016 Jul 18 doi: 10.1111/chd.12395. PMID: 27425254
Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome.
Mishra S
Indian J Pediatr 2015 Dec;82(12):1135-46. Epub 2015 Nov 26 doi: 10.1007/s12098-015-1925-x. PMID: 26612104
Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia).
Escobar-Diaz MC, Friedman K, Salem Y, Marx GR, Kalish BT, Lafranchi T, Rathod RH, Emani S, Geva T, Tworetzky W
Am J Cardiol 2014 Aug 15;114(4):612-7. Epub 2014 Jun 6 doi: 10.1016/j.amjcard.2014.05.042. PMID: 24996551Free PMC Article
Cardiovascular manifestations of heterotaxy and related situs abnormalities assessed with CT angiography.
Wolla CD, Hlavacek AM, Schoepf UJ, Bucher AM, Chowdhury S
J Cardiovasc Comput Tomogr 2013 Nov-Dec;7(6):408-16. Epub 2013 Nov 7 doi: 10.1016/j.jcct.2013.11.008. PMID: 24331937Free PMC Article

Therapy

Post-operative Morbidity and Mortality After Fontan Procedure in Patients with Heterotaxy and Other Situs Anomalies.
Duong SQ, Zaniletti I, Lopez L, Sutherland SM, Shin AY, Collins RT 2nd
Pediatr Cardiol 2022 Jun;43(5):952-959. Epub 2022 Jan 22 doi: 10.1007/s00246-021-02804-w. PMID: 35064275
Outcomes in adults with congenital heart disease and heterotaxy syndrome: A single-center experience.
Broda CR, Salciccioli KB, Lopez KN, Ermis PR, Moodie DS, Dickerson HA
Congenit Heart Dis 2019 Nov;14(6):885-894. Epub 2019 Oct 16 doi: 10.1111/chd.12856. PMID: 31617655Free PMC Article
Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review.
Iijima S
BMC Infect Dis 2017 Dec 18;17(1):777. doi: 10.1186/s12879-017-2896-5. PMID: 29254492Free PMC Article
A review of guidance on immunization in persons with defective or deficient splenic function.
Kuchar E, Miśkiewicz K, Karlikowska M
Br J Haematol 2015 Dec;171(5):683-94. Epub 2015 Aug 28 doi: 10.1111/bjh.13660. PMID: 26315210
Thrombocytosis in asplenia syndrome with congenital heart disease: a previously unrecognized risk factor for thromboembolism.
Yamamura K, Joo K, Ohga S, Nagata H, Ikeda K, Muneuchi J, Watanabe M, Hara T
Int J Cardiol 2013 Sep 1;167(5):2259-63. Epub 2012 Jun 22 doi: 10.1016/j.ijcard.2012.06.009. PMID: 22727971

Prognosis

Changes in Prognosis of Heterotaxy Syndrome Over Time.
Banka P, Adar A, Schaetzle B, Sleeper LA, Emani S, Geva T
Pediatrics 2020 Aug;146(2) Epub 2020 Jul 9 doi: 10.1542/peds.2019-3345. PMID: 32647064
Outcomes in adults with congenital heart disease and heterotaxy syndrome: A single-center experience.
Broda CR, Salciccioli KB, Lopez KN, Ermis PR, Moodie DS, Dickerson HA
Congenit Heart Dis 2019 Nov;14(6):885-894. Epub 2019 Oct 16 doi: 10.1111/chd.12856. PMID: 31617655Free PMC Article
Bacteremia in Patients with Heterotaxy: A Review and Implications for Management.
Loomba RS, Geddes GC, Basel D, Benson DW, Leuthner SR, Hehir DA, Ghanayem N, Shillingford AJ
Congenit Heart Dis 2016 Dec;11(6):537-547. Epub 2016 Jul 18 doi: 10.1111/chd.12395. PMID: 27425254
Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome.
Mishra S
Indian J Pediatr 2015 Dec;82(12):1135-46. Epub 2015 Nov 26 doi: 10.1007/s12098-015-1925-x. PMID: 26612104
Cardiovascular manifestations of heterotaxy and related situs abnormalities assessed with CT angiography.
Wolla CD, Hlavacek AM, Schoepf UJ, Bucher AM, Chowdhury S
J Cardiovasc Comput Tomogr 2013 Nov-Dec;7(6):408-16. Epub 2013 Nov 7 doi: 10.1016/j.jcct.2013.11.008. PMID: 24331937Free PMC Article

Clinical prediction guides

Blood reservoir function in patients with Fontan circulation and asplenia syndrome.
Fuse M, Sugamoto K, Kuwata S, Sekiya R, Kawada K, Toki M, Kaneko M, Iwamoto Y, Ishido H, Masutani S, Kenmochi M, Saiki H, Senzaki H
Cardiol Young 2019 Aug;29(8):1016-1019. Epub 2019 Jun 21 doi: 10.1017/S104795111900129X. PMID: 31221238
Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experience.
Baban A, Cantarutti N, Adorisio R, Lombardi R, Calcagni G, Piano Mortari E, Dallapiccola B, Marino B, Iorio FS, Carsetti R, Digilio MC, Giannico S, Drago F, Carotti A
Int J Cardiol 2018 Oct 1;268:100-105. doi: 10.1016/j.ijcard.2018.02.050. PMID: 30041775
Comparison of situs ambiguous patterns between heterotaxy syndromes with polysplenia and asplenia.
Yoneyama H, Kondo C, Yamasaki A, Nakanishi T, Sakai S
Eur J Radiol 2015 Nov;84(11):2301-6. Epub 2015 Aug 5 doi: 10.1016/j.ejrad.2015.08.004. PMID: 26304785
Clinical and serologic parallels to APS-I in patients with thymomas and autoantigen transcripts in their tumors.
Wolff AS, Kärner J, Owe JF, Oftedal BE, Gilhus NE, Erichsen MM, Kämpe O, Meager A, Peterson P, Kisand K, Willcox N, Husebye ES
J Immunol 2014 Oct 15;193(8):3880-90. Epub 2014 Sep 17 doi: 10.4049/jimmunol.1401068. PMID: 25230752Free PMC Article
Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia).
Escobar-Diaz MC, Friedman K, Salem Y, Marx GR, Kalish BT, Lafranchi T, Rathod RH, Emani S, Geva T, Tworetzky W
Am J Cardiol 2014 Aug 15;114(4):612-7. Epub 2014 Jun 6 doi: 10.1016/j.amjcard.2014.05.042. PMID: 24996551Free PMC Article

Recent systematic reviews

Bacteremia in Patients with Heterotaxy: A Review and Implications for Management.
Loomba RS, Geddes GC, Basel D, Benson DW, Leuthner SR, Hehir DA, Ghanayem N, Shillingford AJ
Congenit Heart Dis 2016 Dec;11(6):537-547. Epub 2016 Jul 18 doi: 10.1111/chd.12395. PMID: 27425254

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