title: Aortic stenosis and severe mitral regurgitation in the fetus resulting in giant left atrium and hydrops: pathophysiology, outcomes, and preliminary experience with pre-natal cardiac intervention.
abstract: OBJECTIVE
  The objective of this article is to review anatomic, physiologic, and clinical features of fetuses and neonates with severe mitral regurgitation (MR) in conjunction with aortic stenosis (AS) and left ventricular (LV) and left atrial (LA) dilation and to present preliminary results of pre-natal intervention for this condition.
  
  
  BACKGROUND
  Severe fetal valvar AS with an abnormal mitral valve (MV) and MR can lead to left heart dilation, with consequent compression of the right ventricle (RV); hydrops and low cardiac output are often associated.
  
  
  METHODS
  This is a retrospective review of fetuses diagnosed with AS, severe MR, and LA dilation (2002 to 2009) and neonates with the same combination of abnormalities (1988 to 2009).
  
  
  RESULTS
  Fourteen fetuses and 7 neonates were investigated. Eleven fetuses had severe hydrops; all had polyhydramnios and a structurally abnormal MV, abnormal MV inflow pattern, restrictive/intact atrial septum, retrograde flow in the transverse aortic arch, and compression of the right heart. The mean indexed RV output was 326 ± 160 ml/kg/min, lower than the normal average fetal combined ventricular output of 550 ± 150 ml/kg/min. Ten fetuses underwent pre-natal cardiac intervention: aortic valvuloplasty (n = 8) and/or atrial septal dilation/stenting (n = 5). Seven of these, and 11 overall, were live born. Nine patients died (median age 6 days), and 2 patients are currently alive. All 7 patients diagnosed in the neonatal period died (median age 1 day).
  
  
  CONCLUSIONS
  Aortic stenosis associated with significant MR in the fetus can cause severe LA and LV enlargement, leading to low cardiac output and hydrops. Despite the potential advantages of early pre-natal diagnosis and both fetal and neonatal interventions, this rare complex of anomalies carries a poor prognosis.
authors.affiliation: Department of Cardiology, The Advanced Fetal Care Center, Children's Hospital Boston, Harvard Medical School, Massachusetts, USA.
authors.forename: Melanie
authors.initials: M
authors.lastname: Vogel
authors.forename: Doff B
authors.initials: DB
authors.lastname: McElhinney
authors.forename: Louise E
authors.initials: LE
authors.lastname: Wilkins-Haug
authors.forename: Audrey C
authors.initials: AC
authors.lastname: Marshall
authors.forename: Carol B
authors.initials: CB
authors.lastname: Benson
authors.forename: Amy L
authors.initials: AL
authors.lastname: Juraszek
authors.forename: Virginia
authors.initials: V
authors.lastname: Silva
authors.forename: James E
authors.initials: JE
authors.lastname: Lock
authors.forename: Gerald R
authors.initials: GR
authors.lastname: Marx
authors.forename: Wayne
authors.initials: W
authors.lastname: Tworetzky
mesh_terms: D001024:Aortic Valve Stenosis / Q000150:complications / Q000000981:diagnostic imaging* / Q000628:therapy; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006325:Heart Atria / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging* / Q000628:therapy; D007231:Infant, Newborn; D008944:Mitral Valve Insufficiency / Q000150:complications / Q000000981:diagnostic imaging* / Q000628:therapy; D011247:Pregnancy; D012189:Retrospective Studies; D016896:Treatment Outcome; D016216:Ultrasonography, Prenatal / Q000379:methods*