title: Surgical Repair of Total Anomalous Pulmonary Venous Connection in a Neonate With Mosaic Trisomy 8.
abstract: Trisomy 8 mosaicism is a relatively rare chromosomal abnormality and has extremely variable phenotype with a wide range of clinical manifestations. Although no well-defined criteria for cardiac surgical indications are available for patients with mosaic trisomy 8, we present a case of hypoplastic left heart syndrome with total anomalous pulmonary venous connection (TAPVC) in a neonate with mosaic trisomy 8. Although primary sutureless repair of TAPVC with concomitant bilateral pulmonary artery banding was performed successfully in this case, the indications for cardiac surgery in patients with mosaic trisomy 8 should be carefully individualized. The entire dialog with parents and family, including the process of informed consent, is of great importance.
authors.affiliation: Department of Cardiovascular Surgery, Kobe Children's Hospital, Kobe, Japan tohasegawa_kch@hp.pref.hyogo.jp.
authors.forename: Tomomi
authors.initials: T
authors.lastname: Hasegawa
authors.affiliation: Department of Cardiovascular Surgery, Kobe Children's Hospital, Kobe, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Oshima
authors.affiliation: Department of Pediatric Cardiology, Kobe Children's Hospital, Kobe, Japan.
authors.forename: Yumi
authors.initials: Y
authors.lastname: Sato
authors.affiliation: Department of Cardiovascular Surgery, Kobe Children's Hospital, Kobe, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Tanaka
mesh_terms: D006348:Cardiac Surgical Procedures; D002898:Chromosomes, Human, Pair 8; D000066491:Clinical Decision-Making; D003256:Community Participation; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000000981:diagnostic imaging / Q000601:surgery*; D007231:Infant, Newborn; D007258:Informed Consent; D008297:Male; D009030:Mosaicism; D010290:Parents; D012587:Scimitar Syndrome / Q000000981:diagnostic imaging / Q000601:surgery*; D014314:Trisomy; D024182:Uniparental Disomy; D014656:Vascular Surgical Procedures
keywords: cardiac surgery; neonate; total anomalous pulmonary venous connection; trisomy 8 mosaicism