J Cardiovasc Ultrasound.  2014 Dec;22(4):213-219. 10.4250/jcu.2014.22.4.213.

Total Anomalous Pulmonary Venous Return in Siblings

• Kim HS
• Jeong K
• Cho HJ
• Choi WY
• Choi YE
• Ma JS
• Cho YK

• KMID: 1980426
• DOI: http://doi.org/10.4250/jcu.2014.22.4.213

Abstract

Total anomalous pulmonary venous return (TAPVR) is a rare and critical congenital vascular anomaly that requires an early operation. However, initial symptoms of TAPVR may be non-specific, and cardiovascular findings may be minimal. The heart may not be enlarged and there is often no cardiac murmur. Without cardiac murmur, these symptoms are similar to those of respiratory distress syndrome in newborns. Therefore, a high degree of suspicion and an early diagnosis of TAPVR are important. This condition generally occurs without a family history and has a low recurrence rate, but several familial cases, including siblings, have been reported worldwide. Additionally, several chromosomal or gene abnormalities associated with TAPVR have been reported. In the case presented here, two brothers with a 6-year age gap were diagnosed with TAPVR. Surgery was performed without cardiac or neurological complications. This is the first report on TAPVR in siblings in Korea.

Keyword

Total anomalous pulmonary venous return; TAPVR; Sibling

MeSH Terms

Early Diagnosis
Heart
Heart Murmurs
Humans
Infant, Newborn
Korea
Recurrence
Scimitar Syndrome*
Siblings*

Figure

• 

  Fig. 1 Chest X-rays of the patients. A: Chest X-ray shows a normal size and configuration of the heart and increased pulmonary vascular markings. B: Chest X-ray shows mild cardiomegaly with a cardiothoracic ratio of 0.60 and increased pulmonary vascular markings.

• 

  Fig. 2 Echocardiogram of the case 1 patient. A: A parasternal four-chambered view echocardiogram shows dilatation of the right atrium (RA) and right ventricle (RV) and severe tricuspid regurgitation due to right heart volume load and pulmonary hypertension. B: The subcostal view shows that a common venous chamber (CVC) was not connected with the left atrium (LA), and a patent foramen ovale is seen with a right to left shunt. C: The suprasternal view show an ascending vertical vein (VV) draining into the enlarged innominate vein secondary to the superior vena cava (SVC). D: Follow-up echocardiogram after surgical repair shows decreased amount of tricuspid regurgitation and normalized sizes of the RA and RV. E: No flow obstruction was detected between the CVC and the LA. F: Blood flow and size of the SVC were normalized.

• 

  Fig. 3 Echocardiogram of the case 2 patient. Parasternal four-chambered view echocardiogram shows a common pulmonary venous chamber (CVC) from pulmonary veins (arrows) not connected to the left atrium (LA) and a patent foramen ovale (A). It also shows severe pulmonary hypertension, a severe amount of tricuspid regurgitation with peak velocity of 4.4 m/s, right atrial (RA) and right ventricle (RV) enlargement (B), and a CVC draining into the dilated coronary sinus (CS) secondary to the RA on the subcostal view (C). The follow-up echocardiogram after surgical repair shows the normalized RA and RV (D), no tricuspid regurgitation, and a CVC opened to the LA without flow disturbance (E and F).

Reference

1. Brown DW, Geva T. Anomalies of the pulmonary veins. In : Allen HD, Driscoll DJ, Shaddy RE, Feltes TF, editors. Moss and Adams' heart disease in infants, children, and adolescents: including the fetus and young adult. 8th ed. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins;2013. p. 822–833.

2. Bleyl S, Ruttenberg HD, Carey JC, Ward K. Familial total anomalous pulmonary venous return: a large Utah-Idaho family. Am J Med Genet. 1994; 52:462–466.

3. Karamlou T, Gurofsky R, Al Sukhni E, Coles JG, Williams WG, Caldarone CA, Van Arsdell GS, McCrindle BW. Factors associated with mortality and reoperation in 377 children with total anomalous pulmonary venous connection. Circulation. 2007; 115:1591–1598.

4. Warkany J. Etiology and morphogenesis of congenital heart disease. Am J Dis Child. 1981; 135:389–390.

5. Seale AN, Carvalho JS, Gardiner HM, Mellander M, Roughton M, Simpson J, Tometzki A, Uzun O, Webber SA, Daubeney PE. British Congenital Cardiac Association. Total anomalous pulmonary venous connection: impact of prenatal diagnosis. Ultrasound Obstet Gynecol. 2012; 40:310–318.

6. Le-Tan-Vinh , Tran-Van-Duc , Alcardi J, Thieffry S. [Familial infra-diaphragmatic total abnormal pulmonary venous return]. Arch Fr Pediatr. 1968; 25:1141–1149.

7. Gathman GE, Nadas AS. Total anomalous pulmonary venous connection: clinical and physiologic observations of 75 pediatric patients. Circulation. 1970; 42:143–154.

8. Paz JE, Castilla EE. Familial total anomalous pulmonary venous return. J Med Genet. 1971; 8:312–314.

9. Kaufman RL, Boynton RC, Hartmann AF, Morgan BC, McAlister WH. Family studies in congenital heart disease. III. Total anomalous pulmonary venous connection in two sisters and their female maternal first cousin. Birth Defects. 1972; 8:88–91.

10. Clarke CP, Edis BD, Danks DM. Familial total anomalous pulmonary venous return. Aust N Z J Med. 1973; 3:629.

11. Delisle G, Ando M, Calder AL, Zuberbuhler JR, Rochenmacher S, Alday LE, Mangini O, Van Praagh S, Van Praagh R. Total anomalous pulmonary venous connection: Report of 93 autopsied cases with emphasis on diagnostic and surgical considerations. Am Heart J. 1976; 91:99–122.

12. Milner S, Levin SE, Marchand PE, Hitchcock F. Total anomalous pulmonary venous drainage in sibs. Arch Dis Child. 1977; 52:984.

13. Baron P, Gutgesell H, Hawkins E, McNamara D. Infradiaphragmatic total anomalous pulmonary venous connection in siblings. Am Heart J. 1982; 104(5 Pt 1):1107–1109.

14. Solymar L, Sabel KG, Zetterqvist P. Total anomalous pulmonary venous connection in siblings. Report on three families. Acta Paediatr Scand. 1987; 76:124–127.

15. Gleason MM. Concordant total anomalous pulmonary venous connection in dizygotic twins. Am Heart J. 1989; 118:1338–1340.

16. Raisher BD, Dowton SB, Grant JW. Father and two children with total anomalous pulmonary venous connection. Am J Med Genet. 1991; 40:105–106.

17. Correa-Villaseñor A, Ferencz C, Boughman JA, Neill CA. The Baltimore-Washington Infant Study Group. Total anomalous pulmonary venous return: familial and environmental factors. Teratology. 1991; 44:415–428.

18. Bleyl S, Nelson L, Odelberg SJ, Ruttenberg HD, Otterud B, Leppert M, Ward K. A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12. Am J Hum Genet. 1995; 56:408–415.

19. Bleyl SB, Saijoh Y, Bax NA, Gittenberger-de Groot AC, Wisse LJ, Chapman SC, Hunter J, Shiratori H, Hamada H, Yamada S, Shiota K, Klewer SE, Leppert MF, Schoenwolf GC. Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms. Hum Mol Genet. 2010; 19:1286–1301.

20. Ramer JC, Mowrey PN, Robins DB, Ligato S, Towfighi J, Ladda RL. Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations. Am J Med Genet. 1990; 37:392–400.

21. Wu CH, Hwu WL, Wang JK, Young C, Peng SS, Kuo MF. Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return. Am J Med Genet. 2001; 103:245–248.

22. Harris DL, Siu BL, Hummel M, Harbert K, Senft J, Sargent L, Wenger SL. Mosaic ring 12p and total anomalous pulmonary venous return. Am J Med Genet A. 2004; 131:91–93.

23. Cinquetti R, Badi I, Campione M, Bortoletto E, Chiesa G, Parolini C, Camesasca C, Russo A, Taramelli R, Acquati F. Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return. Hum Mutat. 2008; 29:468–474.

24. Degenhardt K, Singh MK, Aghajanian H, Massera D, Wang Q, Li J, Li L, Choi C, Yzaguirre AD, Francey LJ, Gallant E, Krantz ID, Gruber PJ, Epstein JA. Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections. Nat Med. 2013; 19:760–765.

25. Seale AN, Uemura H, Webber SA, Partridge J, Roughton M, Ho SY, McCarthy KP, Jones S, Shaughnessy L, Sunnegardh J, Hanseus K, Berggren H, Johansson S, Rigby ML, Keeton BR, Daubeney PE. British Congenital Cardiac Association. Total anomalous pulmonary venous connection: morphology and outcome from an international population-based study. Circulation. 2010; 122:2718–2726.

26. Hales AR, Mahle WT. Echocardiography screening of siblings of children with bicuspid aortic valve. Pediatrics. 2014; 133:e1212–e1217.