Isomerismi atriali nel feto: le sindromi


Isomerismi atriali nel feto : le sindromi.
Definizione e bibliografia.
S.Gerboni M.D.

Le sindromi da Isomerismo Atriale Destro (IAD) e Isomerismo Atriale Sinistro (IAS), o sindromi eterotassiche, dette anche rispettivamente Sindromi Aspleniche (SA) e Sindromi Polispleniche (SP) , sono sindromi congenite che alterano la normale asimmetria degli organi addominali e toracici. Questi difetti cosidetti di mancata lateralizzazione, apparentemente a causa genetica unica, hanno espressioni fenotipiche diverse :

IAD e SA si associano a cardiopatie piu’ gravi quali canale atrioventricolare completo, trasposizione dei grossi vasi, atresia polmonare e ritorno venoso polmonare anomalo totale

IAS e SP, daltra parte, puo’ avere una prognosi migliore per la minor gravita’  dei difetti associati quali vena cava superiore bilaterale, interruzione della vena cava inferiore con continuazione in azigos, atrio comune, difetti del setto interventricolari, ritorno venoso anomalo polmonare parziale.

Il blocco atrioventricolare completo e’ una caratteristica dell’ IAS, ma non dell’IAD, ha ovviamente una prognosi sfavorevole.

Nelle ultime due decadi, l’ecocardiografia fetale e’ divenuta la tecnica ideale nella diagnosi delle.cardiopatie congenite neonatali e fetali gia’  dalla 16^ settimana di gestazione incluse cardiopatie congenite complesse quali gli isomerismi di cui si sono evidenziati dei marker fetali ( interruzione della vena cava inferiore con azigos continuation e BAV completo con anomalie strutturali cardiache presenti nel 90 % di IAS) .

In altri casi si puo’ osservare situs viscero-cardiaco ambiguo con cardiopatia. L’osservazione attenta del situs viscero-cardiaco puo’ segnalare la presenza di un IAS o IAD osservando la posizione della vana cava inferiore relativa all’aorta addominale ed al sistema dell’azigos, la posizione relativa dello stomaco e della punta cardiaca. Alcune combinazioni sono patognomoniche di eterotassia quali il blocco cardiaco e l’interruzione della vena cava ( l’interruzione della vena cava inferiore isolata è stata descritta, anche dal mio gruppo (26) in assenza di qualsiasi altra malformazione cardiaca ed extracardiaca.
Nella diagnostica prenatale puo’ essere piu’ facile dimostrare la morfologia degli atri rispettivamente biatriale destra o sinistra.

L’analisi delle anomalie cardiache e non cardiache in antrambi i tipi di isomerismo suggeriscono una comune origine embriologica e la disponibilita’  degli attuali mezzi di diagnosi ecocardiografica consentono una diagnosi precocissima in utero, permettendo una pianificazione corretta della gestazione e del feto cardiopatico.

Bibliografia

  • 1. Bmeckner M, D’Eustachio P, Horwich AL. Linkage mapping of a mouse gene, iv, that controls left-right asymmetry of the heart and viscera. Proc Natl Acad Sci USA 1989;86:5035-5038.
  • 2. Moller JH, Nakib A, Anderson RC, Edwards JE. Congenital cardiac disease associated with polysplenia. A developmental complex of bilateral “left-sidedness.Circulation 1967;36:789-799.
  • 3. Peoples WM, Moller JH, Edwards JE. Polysplenia: a review of 146 cases.Pediatr Cardiol 1983;4: 129- 137.
  • 4. Phoon CK, Neil1 CA. Asplenia syndrome: insight into embryology through an analysis of cardiac and extracardiac anomalies. Am J Cardiol 1994;73:581-587.
  • 5. Phoon CK, Neil1 CA. Polysplenia syndrome: embryological considerations and comparison with asplenia syndrome [abstract]. Pediatr Res 1995;37(4 Part2):31A.
  • 6. Rose V, lzukawa T, MO&S CAF. 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,
  • 7. Van Mierop LHS, Gessner IH, Schiebler GL. Asplenia and polysplenia syndrome. Birth Defects 1972;VIII:74-82.
  • 8. Garcia OL, Mehta AV, Pickoff AS, Tamer DF, Ferrer PL, Wolff GS, Gelband H. Left atria1 isomerism and complete atrioventricular block: a report of six cases. Am .I Cardiol 1981;48:1103-1107.
  • 9. Machado MVL, Tynan MJ, Curry PVL, Allan LD. Fetal complete heart block. Br Heart .I 1988;60:512-515.
  • 10. Schmidt KG, Uhner HE, Silverman NH, Kleinman CS, Cope1 JA. Perinatal outcome of fetal complete atrioventricular block: a multicenter experience. JAm Coil Cardiol 1991;17:136C-1366.
  • 11. Allan LD, Chita SK, Sharland GK, Fagg NLK, Anderson RH, Crawford DC. The accuracy of fetal echocardiography in the diagnosis of congenital heart disease. Int J Cardiol 1989;25:279-288.
  • 12. Allan LD, Sharland GK, Milbum A, Lockhart SM, Groves AMM, Anderson RH, Cook AC, Fagg NLK. Prospective diagnosis of 1,006 consecutive cases of congenital heart disease in the fetus. JAm Coil Cardiol 1994;23:1452- 1458.
  • 13. Pamess IA, Yeager SB, Sanders SP, Benacerraf B, Cola” SD, Van Praagh R. Echocardiographic diagnosis of fetal heart defects in mid trimester. Arch Dis Child 1988;63:1137-1145.
  • 14. Smythe JF, Cope1 JA, Kleinman CS. Outcome of prenatally detected cardiac malformations. Am J Cardiol 1992;69:1471- 1474.
  • 15. Brook MM, Silverman NH, Villegas M. Cardiac ultrasonography in stmcteal abnormalities and arrhythmias. Recognition and treatment. West J Med 1993;159:286-300.
  • 16. Friedman AH, Cope1 JA, Kleinman CS. Fetal echocardiography and fetal cardiology: indications, diagnosis and management. Semin Perinatol 1993;17:76-88.
  • 17. de Araujo LML, Silverman NH, Filly RA, Golbus MS, Finkbeiner WE,Schmidt KG. Prenatal detection of left atria1 isomerism by ultrasound. J Ultrasound Med 1987;6:667-670.
  • 18. Chitiyat DC, Lao A, Wilson RD. Fagerstrom C, Hayden M. Prenatal diagnosis of asplenia/polysplenia syndrome. Am J Obstet Gynecol
    1988;158:1085-1087.
  • 19. Mauser I, Deutinger J, Bemaschek G. Prenatal diagnosis of a complex fetal cardiac malformation associated with asplenia. Br Heart .I 1991:65:293-295.
  • 20. Stewart PA, Becker AE, Wladimiroff JW, Essed CE. Left atria1 isomerism associated with asplenia: prenatal echocardiographic detection of complex congenital malformations. JAm Co11 Cardiol 1984;4:1015-1020.
  • 21. Allan LD, Crawford DC, Anderson RH, Tynan MJ. Echocardiographic and anatomical correlations in fetal congenital heart disease. Br Heart J 1984;52:542-548.
  • 22. Ho SY, Cook A, Anderson RH, Allan LD, Fagg N. Isomerism of the atrial appendages in the fetus. Pediatr Path01 1991;11:589-608.
  • 23. Seo J-W, Brown NA, Ho SY, Anderson RH. Abnormal laterality and congenital cardiac anomalies. Relations of visceral and cardiac morphologies in the iv/iv mouse. Circulation 1992;86:642-650.
  • 24. Silverman NH, Kleinman CS, Rudolph AM, Cope1 JA, Weinstein EM,Enderlein MA, Golbus M. Fetal atrioventricular valve insufficiency associated with nonimmune hydrops: a two-dimensional echocardiographic and pulsed Doppler ultrasound study. Circulation 1985;72:825-832.
  • 25. Icardo JM, Sanchez de la Vega MJ. Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy. Circulation 1991;84:2547-2558.
  • 26. Prenatal diagnosis of interrupted inferior vena cava as an isolated finding: a benign vascular malformation. Celentano C, Malinger G, Rotmensch S, Gerboni S, Wolman Y, Glezerman M.Ultrasound Obstet Gynecol. 1999 Sep;14(3):215-8.
  • 27. Ho SY, Seo JW, Brown NA, Cook AC, Fagg NL, Anderson RH. Morphology of the sinus node in human and mouse hearts with isomerism of the atrial appendages. Br Heart J. 1995 Oct;74(4):437-42.
  • 28. Felipe A, Knittle TJ, Doyle KL, Snyders DJ, Tamkun MM. Differential expression of Isk mRNAs in mouse tissue during development and pregnancy. Am J Physiol. 1994 Sep;267(3 Pt 1):C700-5.
  • 29. Macedo AJ, Ferreira M, Borges A, Sampaio A, Ferraz F, Sampayo F. [Fetal echocardiography. The results of a 3-year study] Acta Med Port. 1993 Nov;6 Suppl 1:I9-13. Portuguese.
  • 30. Ho SY, Fagg N, Anderson RH, Cook A, Allan L. Disposition of the atrioventricular conduction tissues in the heart with isomerism of the atrial appendages: its relation to congenital complete heart block. J Am Coll Cardiol. 1992 Oct;20(4):904-10.
  • 31. Lopes LM, Cha SC, Sadek L, Iwahashi ER, Aiello VD, Zugaib M. Related Articles, [Fetal atrioventricular block] Arq Bras Cardiol. 1992 Oct;59(4):261-4. Portuguese.
  • 32. Nakao K, Yasue H, Fujimoto K, Okumura K, Yamamoto H, Hitoshi Y, Murohara T, Takatsu K, Increased expression of atrial myosin light chain 1 in the overloaded human left ventricle: possible expression of fetal type myocytes. Int J Cardiol. 1992 Sep;36(3):315-28.
  • 33. Morishima M, Ando M, Takao A. Related Articles, Visceroatrial heterotaxy syndrome in the NOD mouse with special reference to atrial situs. Teratology. 1991 Jul;44(1):91-100.
  • 34. Schmidt KG, Ulmer HE, Silverman NH, Kleinman CS, Copel JA. Perinatal outcome of fetal complete atrioventricular block: a multicenter experience. J Am Coll Cardiol. 1991 May;17(6):1360-6.
  • 35. Ho SY, Frescura C, Thiene G. Isomerism of the left atrial appendage and left lung in conjoined twins. Int J Cardiol. 1990 May;27(2):277-9.
  • 36. Gembruch U, Hansmann M, Redel DA, Bald R, Knopfle G. Fetal complete heart block: antenatal diagnosis, significance and management. Eur J Obstet Gynecol Reprod Biol. 1989 Apr;31(1):9-22. Review.
  • 37. Machado MV, Tynan MJ, Curry PV, Allan LD. Fetal complete heart block. Br Heart J. 1988 Dec;60(6):512-5.
  • 38. Buyon JP, Friedman DM. Related Articles, Autoantibody-associated congenital heart block: the clinical perspective.Curr Rheumatol Rep. 2003 Oct;5(5):374-8. Review.
  • 39. Valsangiacomo ER, Hornberger LK, Barrea C, Smallhorn JF, Yoo SJ. Partial and total anomalous pulmonary venous connection in the fetus: two-dimensional and Doppler echocardiographic findings. Ultrasound Obstet Gynecol. 2003 Sep;22(3):257-63.
  • 40. Allan LD, Sharland GK, Chita SK, Lockhart S, Maxwell DJ. Chromosomal anomalies in fetal congenital heart disease. Ultrasound Obstet Gynecol. 1991 Jan 1;1(1):8-11.
  • 41. Respondek M, Kaluzynski A, Alwasiak J, Jaszewski P, Wilczynski J. Fetal endocarditis in left atrial isomerism – a case report. Ultrasound Obstet Gynecol. 1993 Jan 1;3(1):45-7.
  • 42. Boopathy Vijayaraghavan S, Rao AR, Padmashree G, Raman ML. Prenatal diagnosis of total anomalous pulmonary venous connection to the portal vein associated with right atrial isomerism. Ultrasound Obstet Gynecol. 2003 Apr;21(4):393-6.
  • 43. Fesslova V, Villa L, Nava S, Boschetto C, Redaelli C, Mannarino S. Spectrum and outcome of atrioventricular septal defect in fetal life. Cardiol Young. 2002 Jan;12(1):18-26.
  • 44. Patel CR, Lane JR, Muise KL. In utero diagnosis of obstructed supracardiac total anomalous pulmonary venous connection in a patient with right atrial isomerism and asplenia. Ultrasound Obstet Gynecol. 2001 Mar;17(3):268-71.
  • 45. Huggon IC, Cook AC, Smeeton NC, Magee AG, Sharland GK. Atrioventricular septal defects diagnosed in fetal life: associated cardiac and extra-cardiac abnormalities and outcome. J Am Coll Cardiol. 2000 Aug;36(2):593-601.
  • 46. Hofstaetter C, Plath H, Hansmann M. Prenatal diagnosis of abnormalities of the fetal venous system. Ultrasound Obstet Gynecol. 2000 Mar;15(3):231-41.
  • 47. Baschat AA, Gembruch U, Knopfle G, Hansmann M. First-trimester fetal heart block: a marker for cardiac anomaly. Ultrasound Obstet Gynecol. 1999 Nov;14(5):311-4. Review.
  • 48. Gaio U, Schweickert A, Fischer A, Garratt AN, Muller T, Ozcelik C, Lankes W, Strehle M, Britsch S, Blum M, Birchmeier C. A role of the cryptic gene in the correct establishment of the left-right axis. Curr Biol. 1999 Nov 18;9(22):1339-42.
  • 49. Atkinson DE, Drant S. Diagnosis of heterotaxy syndrome by fetal echocardiography. Am J Cardiol. 1998 Nov 1;82(9):1147-9, A10.
  • 50. Yasui H, Morishima M, Nakazawa M, Aikawa E. Anomalous looping, atrioventricular cushion dysplasia, and unilateral ventricular hypoplasia in the mouse embryos with right isomerism induced by retinoic acid. Anat Rec. 1998 Feb;250(2):210-9.
  • 51. Oh SP, Li E. The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse. Genes Dev. 1997 Jul 15;11(14):1812-26.
  • 52. Yates RW, Raymond FL, Cook A, Sharland GK. Isomerism of the atrial appendages associated with 22q11 deletion in a fetus. Heart. 1996 Dec;76(6):548-9.
  • 53. Phoon CK, Villegas MD, Ursell PC, Silverman NH. Left atrial isomerism detected in fetal life. Am J Cardiol. 1996 May 15;77(12):1083-8.
  • 54. Ventriglia F, Colloridi V, Francalanci P, Di Gioia C, Mafrici A, Gallo P. [Anatomo-clinical correlations of cardiopathies diagnosed during fetal life: analysis of 110 cases of cardiopathies] G Ital Cardiol. 1996 Mar;26(3):249-59. Italian.
  • 55. Eronen M, Kajantie E, Boldt T, Pitkanen O, Aittomaki K. Right atrial isomerism in four siblings. Pediatr Cardiol. 2004 Mar-Apr;25(2):141-4. Epub 2003 Dec 4.
  • 56. Ozkutlu S, Ayabakan C, Demircin M, Yilmaz M. A case of superoinferior ventricular heart with situs ambiguus, dextroventricular loop, and levo transposition of the arteries: prenatal and postnatal echocardiographic diagnosis. Pediatr Cardiol. 2003 Sep-Oct;24(5):498-502.
  • 57. Pasquini L, Tan T, Yen Ho S, Gardiner H. Related Articles, Links
    The implications for fetal outcome of an abnormal arrangement of the abdominal vessels.
    Cardiol Young. 2005 Feb;15(1):35-42.
  • 58. Weninger WJ, Floro KL, Bennett MB, Withington SL, Preis JI, Barbera JP, Mohun TJ, Dunwoodie SL. Development. 2005 Mar;132(6):1337-48.
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