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Total anomalous pulmonary venous connection to an unroofed coronary sinus diagnosed in a fetus with associated spinal muscular atrophy type I

Krupickova, S; Rigby, ML; Jicinska, H; Marais, G; Rubens, M; Carvalho, JS (2017) Total anomalous pulmonary venous connection to an unroofed coronary sinus diagnosed in a fetus with associated spinal muscular atrophy type I. Ultrasound in Obstetrics & Gynecology, 50 (5). pp. 657-658. ISSN 0960-7692 https://doi.org/10.1002/uog.17432
SGUL Authors: Carvalho, Julene

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Abstract

Total anomalous pulmonary venous connection (TAPVC) to unroofed coronary sinus is a rare cardiac condition. We report the first case of antenatal diagnosis which had a rapid and fatal neonatal course due to spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease). The diagnosis of TAPVC with unroofing of the coronary sinus was made at 26 weeks’ gestation, although a dilated inferior caval vein had been recognised at 23 weeks’ gestation. Due to profound hypotonia after birth, genetic review followed by muscle biopsy was performed due to presumptive diagnosis of SMA. The infant deteriorated rapidly, became ventilator dependent and died at the age of 6 weeks. The worst types of SMA are associated with only one copy of SMN2 (survival motor neuron 2) protein, which was also the case of our infant. Although a powerful association with congenital heart defects was described, it has not been reported with TAPVC to unroofed coronary sinus. Moreover, this cardiac condition has not been previously recognised antenatally.

Item Type: Article
Additional Information: This is the peer reviewed version of the following article: Krupickova, S., Rigby, M. L., Jicinska, H., Marais, G., Rubens, M. and Carvalho, J. S. (2017), Total anomalous pulmonary venous connection to unroofed coronary sinus diagnosed in a fetus with spinal muscular atrophy Type I. Ultrasound Obstet Gynecol, 50: 657–658, which has been published in final form at http://doi.org/10.1002/uog.17432. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
Keywords: Obstetrics & Reproductive Medicine, 1114 Paediatrics And Reproductive Medicine
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cardiac (INCCCA)
Journal or Publication Title: Ultrasound in Obstetrics & Gynecology
ISSN: 0960-7692
Dates:
DateEvent
5 November 2017Published
7 February 2017Published Online
1 February 2017Accepted
Publisher License: Publisher's own licence
URI: http://openaccess.sgul.ac.uk/id/eprint/108567
Publisher's version: https://doi.org/10.1002/uog.17432

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