Disorders of laterality and heterotaxy in the foetus;Fetale Lageanomalien und Heterotaxien

Zeitschrift fur Geburtshilfe und Neonatologie

Volumn 216, Issue 3, 2012, Pages 122-131

  Gottschalk, I ^a   Berg, C ^a,b   Heller, R ^a  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^b Abteilung für Geburtshilfe und Pränatale Medizin   (Germany)

Author keywords

disorders of laterality; heart defect; heterotaxy; isomerism; prenatal

Indexed keywords

ECHOGRAPHY; FETUS DISEASE; FETUS ECHOGRAPHY; HETEROTAXY SYNDROME; HUMAN; METHODOLOGY; PRENATAL DEVELOPMENT; REVIEW;

FETAL DISEASES; HETEROTAXY SYNDROME; HUMANS; ULTRASONOGRAPHY, PRENATAL;

EID: 84864039282     PISSN: 09482393     EISSN: 14391651     Source Type: Journal    
DOI: 10.1055/s-0032-1314808     Document Type: Article

References (73)

1. Lin A E, Ticho B S, Houde K et al. Heterotaxy: associated conditions and hospital-based prevalence in newborns. Genet Med: 2000; 2 157 172 (Pubitemid 32010818)
2. Okada Y, Nonaka S, Tanaka Y et al. Abnormal nodal flow precedes situs inversus in iv and inv mice. Mol Cell: 1999; 4 459 468 (Pubitemid 29531126)
3. www.embryology.ch/allemand/hdisqueembry/triderm05.html
4. Hirokawa N, Tanaka Y, Okada Y. Cilia. KIF3 molecular motor and nodal flow. Curr Opin Cell Biol: 2012; 24 31 39
5. Tanaka Y, Okada Y, Hirokawa N. FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination. Nature: 2005; 435 172 177 (Pubitemid 40685936)
6. Nakamura T, Mine N, Nakaguchi E et al. Generation of Robust Left-Right Asymmetry in the Mouse Embryo Requires a Self-Enhancement and Lateral-Inhibition System. Develop Cell: 2006; 11 495 504 (Pubitemid 44467724)
7. Peeters H, Devriendt K. Human laterality disorders. Eur J Med Genet: 2006; 49 349 362 (Pubitemid 44485627)
8. Kuehl K S, Loffredo C. Risk factors for heart disease associated with abnormal sidedness. Teratol: 2002; 66 242 248 (Pubitemid 35266240)
9. Gebbia M, Ferrero G B, Pilia G et al. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet: 1997; 17 305 308 (Pubitemid 27475993)
10. Ware S M, Peng J, Zhu L et al. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet: 2004; 74 93 105 (Pubitemid 38085241)
11. Mohapatra B, Casey B, Li H et al. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet: 2009; 18 861 871
12. Kosaki R, Gebbia M, Kosaki K et al. Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet: 1999; 82 70 76 (Pubitemid 29022303)
13. Bamford R N, Roessler E, Burdine R D et al. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet: 2000; 26 365 369
14. Goldmuntz E, Bamford R, Karkera J D et al. CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet: 2002; 70 776 780 (Pubitemid 34177932)
15. Kosaki K, Bassi M T, Kosaki R et al. Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. Am J Hum Genet: 1999; 64 712 721 (Pubitemid 30460413)
16. Otto E A, Schermer B, Obara T et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet: 2003; 34 413 420 (Pubitemid 36935334)
17. Calinescu-Tuleasca A M, Bottani A, Rougemont A L et al. Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. Eur J Pediatr: 2011; Aug 16. [Epub ahead of print]
18. Marion V, Stutzmann F, Gérard M et al. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet-Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet: 2012; Apr 17. Epub ahead of print]
19. Leigh M W, Pittman J E, Carson J L et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med: 2009; 11 473 487
20. Kennedy M P, Omran H, Leigh M W et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation: 2007; 115 2814 2821 (Pubitemid 46869667)
21. Zariwala M A, Knowles M R, Leigh M W. Primary Ciliary Dyskinesia. GeneReviews™ 2012 In: Pagon R A, Bird T D, Dolan C R, Stephens K, Adam M P. (eds.).
22. Berg J S, Evans J P, Leigh M W et al. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med: 2011; 13 218 229
23. Comstock C H, Smith R, Lee W et al. Right fetal cardiac axis: clinical significance and associated findings. Obstet Gynecol: 1998; 91 495 499 (Pubitemid 28153032)
24. Walmsley R, Hishitani T, Sandor G S et al. Diagnosis and outcome of dextrocardiea diagnosed in the fetus. Am J Cardiol: 2004; 94 141 143 (Pubitemid 38813474)
25. Bernasconi A, Azancot A, Simpson S M et al. Fetal Dextrocardia: diagnosis and outcome in two tertiary centres. Heart: 2005; 91 1590 1594 (Pubitemid 41697603)
26. Lee S E, Kim H Y, Jung S E et al. Situs anomalies and gastrointestinal abnormalities. J Pediatr Surg: 2006; 41 1237 1242 (Pubitemid 43963052)
27. Blaas H G, Hals J, Bjornstad P G et al. Situs inversus viscerum with levocardia, without associated anomalies. Fetus: 1991; 1 75 93
28. Talner C N. Report of the New England Regional Infant Cardiac Program, by Donald C. Fyler. Pediatrics: 1980; 65 Suppl 375 461 Pediatrics 1998; 102: 258-259
29. Winer-Muram H T, Tonkin I L. The spectrum of heterotaxic syndromes. Radiol Clin North Am: 1989; 27 06 1147 1170 (Pubitemid 20080430)
30. Ho S Y, Anderson R H, Allan L. Disposition of the atrioventricular conduction tissues in the heart with isomerism of the atrial appendages: its relation to congenital complete heart block. Jam Coll Cardiol: 1992; 20 904 910
31. Berg C, Geipel A, Kohl T et al. Atrioventricular block detected in fetal life - associated anomalies and potential prognostic markers. Ultrasound Obstet Gynecol: 2005; 26 4 15 (Pubitemid 41537005)
32. Schmidt K G, Ulmer H E, Silverman N H et al. Perinatal outcome of fetal complete atrioventricular block: a multicenter experience. J Am Coll Cardiol: 1991; 17 1360 1366
33. Machado M V, Tynan M J, Curry P V et al. Fetal complete heart block. Br Heart J: 1988; 60 512 515 (Pubitemid 19032880)
34. Gembruch U, Hansmann M, Redel D A et al. Fetal complete heart block: antenatal diagnosis, significance and management. Eur J Obstet Gynecol Reprod Biol: 1989; 31 9 22 (Pubitemid 19099542)
35. Berg C, Geipel A, Smrcek J et al. Prenatal diagnosis of cardiosplenic syndromes: a 10-year experience. Ultrasound Obstet Gynecol: 2003; 22 451 495
36. Berg C, Geipel A, Kamil D et al. The syndrome of left isomerism - sonographic findings and outcome in prenatally diagnosed cases. J Ultrasound Med: 2005; 24 921 931 (Pubitemid 40885178)
37. Peoples W M, Moller J H, Edwards J E. Polysplenia: a review of 146 cases. Pediatr Cardiol: 1983; 4 129 137 (Pubitemid 13034597)
38. Rose V, Izukawa T, Moes C A. Syndromes of asplenia and polysplenia. A review of cardiac and non-cardiac malformations in 60 cases with special reference to diagnosis and prognosis. Br Heart J: 1975; 37 840 852
39. Ruscazio M, Van Praagh S, Marrass A R et al. Interrupted inferior vena cava in asplenia syndromes and a review of the hereditary patterns of visceral situs abnormalities. Am J Cardiol: 1998; 81 111 116 (Pubitemid 28046860)
40. Chang J, Brueckner M, Touloukian R J. Intestinal malrotation and fixation abnormalities in heterotaxis: early detection and management. J Pediatr Surg: 1993; 28 1281 1285 (Pubitemid 23326420)
41. Choi M, Borenstein H, Hornberger L et al. Heterotaxy syndrome: the role of screening for intestinal rotation abnormalities. Arch Dis Child: 2005; 90 813 815 (Pubitemid 41081358)
42. Gillajm T, McCrindle B W, Smallhorn J F et al. Outcomes of left atrial isomerism over a 28-year period at a single institution. J Am Coll Cardiol: 2000; 36 908 916
43. Carmi R, Magee C A, Neill C A et al. Extrahepatic biliary atresia and associated anomalies: etiologic heterogeneity suggested by distinctive patterns of associations. Am J Med Genet: 1993; 45 683 693 (Pubitemid 23077318)
44. Murray C P, Yoo S J, Babyn P S. Congenital extrahepatic portosystemic shunts. Pediatr Radiol: 2003; 33 614 620 (Pubitemid 37121546)
45. Berg C, Geipel A, Kamil D et al. The syndrome of right isomerism - prenatal features and outcome. Ultraschall in Med: 2006; 27 225 233
46. Wu M H, Wang J K, Lin J L et al. Supraventricular tachycardia in patients with right atrial isomerism. J Am Coll Cardiol: 1998; 32 773 779
47. Ticho B S, Goldstein A M, Van Praagh R. Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures. Am J Cardiol: 2000; 85 727 734
48. Uemura H, Ho S Y, Devine W A et al. Atrial appendages and venoatrial connections in hearts with visceral heterotaxy. Ann Thorac Surg: 1995; 60 561 569
49. Phoon C K, Neill C A. Asplenia syndrome: insight into embryology through an analysis of cardiac and extracardiac anomalies. Am J Cardiol: 1994; 73 581 587 (Pubitemid 24142592)
50. Lim JS L, McCrindle B W, Smallhorn J F et al. Clinical features, management, and outcome of children with fetal and postnatal diagnosis of isomerism syndromes. Circulation: 2005; 112 2454 2461 (Pubitemid 41504495)
51. Fyler D C, Buckley L P, Hellenbrand W E et al. Report of the New England Regional Infant Cardiac Programme. Pediatrics: 1980; 65 suppl 376 461
52. Rubino M, Van Praagh S, Kadoba K et al. Systemic and pulmonary venous connections in visceral heterotaxy with aspenia. Diagnostic and surgical consideration based on 72 autopsied cases. J Thorac Cardiovasc Surg: 1995; 110 641 650
53. Hashmi A, Abu-Sulaiman R, McCrindle B W et al. Management and outcomes of right atrial isomerism: a 26-year experience. J Am Coll Cardiol: 1998; 31 1120 1126 (Pubitemid 28212516)
54. Patel C R, Lane J R, Muise K L. In utero diagnosis of obstructed supracardiac total anomalous pulmonary venous connection in a patient with right atrial isomerism and asplenia. Ultrasound Obstet Gynecol: 2001; 17 268 271 (Pubitemid 32336774)
55. Huggon I C, Cook A C, Smeeton N C et al. Atrioventricular septal defects diagnosed in fetal life: associated cardiac and extra-cardiac abnormalities and outcome. J Am Coll Cardiol: 2000; 36 593 601
56. Wren C, Macartney F J, Deanfield J E. Cardiac rhythm in atrial isomerism. Am J Cardiol: 1987; 59 1156 1158 (Pubitemid 17077029)
57. Shenker L, Reed K L, Anderson C F et al. Congenital heart block and cardiac anomalies in the absence of maternal connective tissue disease. Am J Obstet Gynecol: 1987; 157 248 253
58. Baschat A A, Gembruch U, Knopfle G et al. First-trimester fetal heart block: a marker for cardiac anomaly. Ultrasound Obstet Gynecol: 1999; 4 311 314 (Pubitemid 30032353)
59. Jaeggi E T, Hornberger L K, Smallhorn F J et al. Prenatal diagnosis of a complete atrioventricular heart block associated with structural heart disease: combined experience of two tertiary care centers and review of the literature. Ultrasound Obstet Gynecol: 2005; 26 16 21 (Pubitemid 41537006)
60. Moller J H, Nakib A, Anderson R C et al. Congenital cardiac disease associated with polysplenia. A developmental complex of bilateral "left-sidednesso" Circulation: 1967; 36 789 799
61. Salomon L J, Baumann C, Delezoide Al et al. Abnormal abdominal situs: what and how should we look for? Prenatal diagn: 2006; 26 282 285
62. Ivemark B I. Implications of agenesis of the spleen in the pathogenesis of conotruncal anomalies in childhood. Acta Paediatr: 1955; 44 Suppl 7 110
63. Ho S Y, Cook A, Anderson R A et al. Isomerism of the atrial appendages in the fetus. Pediatr Pathol: 1991; 11 589 608
64. Van Praagh S, Kakou-Guikahue M, Hae-Seong K et al. Atrial situs in patients with visceral heterotaxy and congenital heart disease: conclusions based on finding in 104 postmortem cases. Coeur: 1988; 19 484 502
65. Yoo S J, Lee Y H, Cho K S et al. Sequential segmental approach to fetal congenital heart disease. Cardiol Young: 1999; 9 430 444
66. Phoon C K, Villegas M D, Ursell P C et al. Left atrial isomerism detected in fetal life. Am J Cardiol: 1996; 77 1983 1088
67. Sheley R C, Nyberg D A, Kapur R. Azygous continuation of the interrupted inferior vena cava: a clue to prenatal diagnosis of the cardiosplenic syndromes. J Ultrasound Med: 1995; 14 381 387
68. Okoye B O, Bailey D M, Cusick E L et al. Prophylactic gastropexy in the asplenia syndrome. Pediatr Surg Int: 1997; 12 28 29 (Pubitemid 27010809)
69. Nakada K, Kawaguchi F, Wakisaka M et al. Digestive tract disorders associated with asplenia/polysplenia syndrome. J Pediatr Surg: 1997; 32 91 94 (Pubitemid 27057038)
70. Wu M H, Wang J K, Lue H C. Sudden death in patients with right isomerism (asplenism) after palliation. J Pediatr: 2002; 140 93 96
71. Waldman J D, Rosenthal A, Smith A L et al. Sepsis and congenital asplenia. J Pediatr: 1977; 90 555 559 (Pubitemid 8083170)
72. Walkinshaw S A, Welch C R, McCormack J et al. In utero pacing for fetal congenital heart block. Fetal Diagn Ther: 1994; 9 183 185 (Pubitemid 24179038)
73. Assad R S, Zielinsky P, Kalil R et al. New lead for in utero pacing for fetal congital heart block. J Thorac Cardiovasc Surg: 2003; 126 300 302 (Pubitemid 36909977)