Abstract
Partial anomalous pulmonary venous connections (PAPVC) have been found after abnormal gene expressions involving several syndromes. Total anomalous pulmonary venous connection (TAPVC) is found in conjunction with heterotaxia syndrome as well as several other syndromes. It has been reported with an autosomal dominance with variable expression and incomplete penetrance. The occurrence is also related to environmental factors which may superimpose on a familial susceptibility for TAPVC. Many pathways are involved in the normal development of the pulmonary venous connections and as a consequence disturbance of many genetic and epigenetic pathways lead to partial or total pulmonary venous misconnections. In this chapter, an overview of current knowledge regarding human genetics of anomalous venous connections is provided.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Douglas YL, Jongbloed MR, DeRuiter MC et al (2010) Normal and abnormal development of pulmonary veins: state of the art and correlation with clinical entities. Int J Cardiol 147:13–24
Douglas YL, Jongbloed MR, den Hartog WC et al (2009) Pulmonary vein and atrial wall pathology in human total anomalous pulmonary venous connection. Int J Cardiol 134:302–312
Korbmacher B, Buttgen S, Schulte HD et al (2001) Long-term results after repair of total anomalous pulmonary venous connection. Thorac Cardiovasc Surg 49:101–106
Tanel RE, Kirshbom PM, Paridon SM et al (2007) Long-term noninvasive arrhythmia assessment after total anomalous pulmonary venous connection repair. Am Heart J 153:267–274
Ruggieri M, Abbate M, Parano E et al (2003) Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: familial scimitar anomaly or new syndrome? Am J Med Genet A 116A:170–175
Laux D, Fermont L, Bajolle F et al (2013) Prenatal diagnosis of isolated total anomalous pulmonary venous connection: a series of 10 cases. Ultrasound Obstet Gynecol 41:291–297
Posch MG, Perrot A, Schmitt K et al (2008) Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am J Med Genet A 146A:251–253
Dentici ML, Sarkozy A, Pantaleoni F et al (2009) Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. Eur J Hum Genet 17:733–740
Mohapatra B, Casey B, Li H et al (2009) Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet 18:861–871
Ware SM, Peng J, Zhu L et al (2004) Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 74:93–105
Correa-Villasenor A, Ferencz C, Boughman JA, The Baltimore-Washington Infant Study Group et al (1991) Total anomalous pulmonary venous return: familial and environmental factors. Teratology 44:415–428
Devriendt K, Casaer A, Van CA et al (1994) Asplenia syndrome and isolated total anomalous pulmonary venous connection in siblings. Eur J Pediatr 153:712–714
Pierson DM, Taboada EM, Lofland GK et al (2001) Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar features in his 36-year-old father. Clin Dysmorphol 10:95–99
Park HK, Heinle JS, Morales DL (2012) Williams syndrome and obstructed total anomalous pulmonary venous return: a previously unreported association. Ann Thorac Surg 94:289–291
Bleyl S, Ruttenberg HD, Carey JC et al (1994) Familial total anomalous pulmonary venous return: a large Utah-Idaho family. Am J Med Genet 52:462–466
Soemedi R, Wilson IJ, Bentham J et al (2012) Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet 91:489–501
Erdogan F, Larsen LA, Zhang L et al (2008) High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J Med Genet 45:704–709
Zaidi S, Choi M, Wakimoto H et al (2013) De novo mutations in histone-modifying genes in congenital heart disease. Nature 498:220–223
Jackson LW, Correa-Villasenor A, Lees PS et al (2004) Parental lead exposure and total anomalous pulmonary venous return. Birth Defects Res A Clin Mol Teratol 70:185–193
Bleyl SB, Botto LD, Carey JC et al (2006) Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12. Am J Med Genet A 140:2368–2373
Bleyl SB, Saijoh Y, Bax NA et al (2010) Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms. Hum Mol Genet 19:1286–1301
Bax NA, Bleyl SB, Gallini R et al (2010) Cardiac malformations in pdgfralpha mutant embryos are associated with increased expression of WT1 and Nkx2.5 in the second heart field. Dev Dyn 239:2307–2317
Badi I, Cinquetti R, Frascoli M et al (2009) Intracellular ANKRD1 protein levels are regulated by 26S proteasome-mediated degradation. FEBS Lett 583:2486–2492
Acquati F, Russo A, Taramelli R et al (2000) Nonsyndromic total anomalous venous return associated with a de novo translocation involving chromosomes 10 and 21 t(10;21)(q23.1;q11.2). Am J Med Genet 95:285–286
Cinquetti R, Badi I, Campione M et al (2008) Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return. Hum Mutat 29:468–474
Chen B, Zhong L, Roush SF et al (2012) Disruption of a GATA4/Ankrd1 signaling axis in cardiomyocytes leads to sarcomere disarray: implications for anthracycline cardiomyopathy. PLoS One 7:e35743
Bang ML, Gu Y, Dalton ND et al (2014) The muscle ankyrin repeat proteins CARP, Ankrd2, and DARP are not essential for normal cardiac development and function at basal conditions and in response to pressure overload. PLoS One 9:e93638
DeRuiter MC, Poelmann RE, Mentink MMT et al (1993) Early formation of the vascular system in quail embryos. Anat Rec 235:261–274
Degenhardt K, Singh MK, Aghajanian H et al (2013) Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections. Nat Med 19:760–765
Rammos S, Gittenberger-de Groot AC, Oppenheimer-Dekker A (1990) The abnormal pulmonary venous connexion: a developmental approach. Int J Cardiol 29:285–295
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2016 Springer-Verlag Wien
About this chapter
Cite this chapter
Poelmann, R.E., Jongbloed, M.R.M., DeRuiter, M.C., Gittenberger-de Groot, A.C. (2016). Human Genetics of Total Anomalous Pulmonary Venous Return. In: Rickert-Sperling, S., Kelly, R., Driscoll, D. (eds) Congenital Heart Diseases: The Broken Heart. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1883-2_29
Download citation
DOI: https://doi.org/10.1007/978-3-7091-1883-2_29
Publisher Name: Springer, Vienna
Print ISBN: 978-3-7091-1882-5
Online ISBN: 978-3-7091-1883-2
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)