Right Atrial Isomerism in Four Siblings

Pediatric Cardiology

Volumn 25, Issue 2, 2004, Pages 141-144

  Eronen, M ^a   Kajantie, E ^a,b   Boldt, T ^a   Pitkanen O ^a   Aittomaki K ^b  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Asplenia; Heterotaxy; Isomerism; Left right axis; Recessive inheritance

Indexed keywords

ARTICLE; ASPLENIA; AUTOPSY; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONGENITAL HEART MALFORMATION; CYANOSIS; DEXTROCARDIA; ECHOCARDIOGRAPHY; EMBRYO AXIS; FAMILIAL DISEASE; FEMALE; FONTAN PROCEDURE; GREAT VESSELS TRANSPOSITION; HEART FAILURE; HEART RIGHT ATRIUM; HEART RIGHT ATRIUM ISOMERISM; HEART SINGLE VENTRICLE; HEART TRANSPLANTATION; HETEROTAXY SYNDROME; HUMAN; INFANT; LUNG VEIN DRAINAGE ANOMALY; MALE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PERICARDIAL EFFUSION; PRENATAL DIAGNOSIS; SIBLING; SINUS VENOSUS; TRICUSPID VALVE REGURGITATION;

ABNORMALITIES, MULTIPLE; ADULT; FAMILY HEALTH; FEMALE; HEART ATRIA; HEART DEFECTS, CONGENITAL; HEART VALVE DISEASES; HEART VALVES; HEART VENTRICLES; HUMANS; INFANT WELFARE; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; PREGNANCY; PREGNANCY COMPLICATIONS, CARDIOVASCULAR; PULMONARY VALVE INSUFFICIENCY; ULTRASONOGRAPHY, PRENATAL;

EID: 1342329563     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00246-003-0540-1     Document Type: Article

References (16)

1. Bamford RN, Roessler E, Burdine RD, Saplakoglu U, Dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B (2000) Loss-of-function mutations in the EGF-CFC gene CFCl are associated with human left-right laterality defects. Nature Genet 26:365-369
2. Bonneau D, Marechaud M, Odent S, Piegay I, Godard A, Amati P (1999) Heterotaxy-neural tube defect and holoprosencephaly occurring independently in two sib fetuses. Am J Med Genet 84:4373-376
3. Cesko I, Hajdu J, Marton T, Tarnai L, Papp Z (2001) Polysplenia and situs inversus in siblings. Case reports. Fetal Diagn Ther 16:11-3
4. Cheung YF, Cheng VYW, Chau AKT, Chiu CSW, Yung TC, Leung MP (2002) Outcome of infants with right atrial isomerism: Is prognosis better with normal pulmonary venous drainage? Heart 87:146-152
5. Gatrad AR, Read AP, Watson GH (1984) Consanguinity and complex cardiac anomalies with situs ambiguus. Arch Dis Child 59:242-245
6. Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth AS, Penman-Splitt M, Bird LM, Bamfort JS, Burn J, Schlessinger D, Nelson DL, Casey B (1997) X-linked situs abnormalities result form mutations in ZIC3. Nature Genet 17:305-308
7. Hamada H, Meno C, Watanabe D, Saijoh Y (2002) Establishment of vertebrate left-right asymmetry. Nat Rev Genet 3:103-113
8. Hashmi A, Abu-Sulaiman R, McCrindle B, Smallhorn JF, Williams WG, Freedom RM (1998) Management and outcome of right atrial isomerism: A 26-year experience. J Am Coll Cardiol 31:1120-1126
9. Phoon CKM, Villegas MD, Ursell PC, Silverman NH (1996) Left atrial isomerism detected in fetal life. Am J Cardiol 77 (12):1083-1088
10. Phoon CK, Neil CA (1994) Asplenia syndrome: Insight intro embryology through an analysis of cardiac and extracardiac anomalies. Am J Cardiol 73:581-587
11. Rose V, Izukawa T, Moës CAF (1975) 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 37:840-852
12. Sadiq M, Stumper O, De Giovanni JV, Wright JCG, Sethia B, Brawn WJ, Silove ED (1996) Management and outcome of infants and children with right atrial isomerism. Heart 75 (3):314-319
13. Schneider H, Brueckner M (2000) Of mice and men: Dissecting the genetic pathway that controls left-right asymmetry in mice and humans. Am J Med Genet 97:258-270
14. Seo J-W, Brown NA, Anderson RH (1992) Abnormal laterality and congenital cardiac anomalies. Relations of visceral and cardiac morphologies in the iv/iv mouse. Circulation 86:642-650
15. Van Praagh S, Santini F, Sanders SP (1992) Cardiac malpositions with special emphasis on visceral heterotaxy (asplenia and polysplenia syndromes). Nadas' pediatric cardiology, 4th ed., Hanley and Belvus, Philadelphia pp 589-608
16. Uemura H, Ho SY, Devine WA, Andersson RH (1995) Analysis of visceral heterotaxy according to splenic status, appendix morphology or both. Am J Cardiol 75:846-849