Fetal double outlet right ventricle without heterotaxy syndrome: Diagnostic spectrum, associated extracardiac pathology and clinical outcomes

Aisling A. Young, Angela McBrien, Oana Caluseriu, Kim Haberer, Gayathri Wewala, Luke Eckersley, Lisa K. Hornberger

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives: To document the clinical spectrum and outcomes of fetal double outlet right ventricle (DORV) without heterotaxy in a recent diagnostic era. Methods: Prenatal cases of DORV consecutively diagnosed from 2007 to 2018 were retrospectively identified. Clinical records, including details regarding genetic testing and pre and postnatal imaging were reviewed. Results: DORV was diagnosed in 99 fetuses without heterotaxy. The most common anatomic subtype was subaortic ventricular septal defect (VSD) and normally related great arteries with (n = 45, 45%) or without (n = 13, 13%) pulmonary stenosis. The remainder had a subpulmonic VSD with transposed great arteries (n = 15, 15%), atrioventricular valve atresia (n = 24, 24%), or remote VSD (n = 2, 2%). A genetic diagnosis was found in 32 (34%) of 93 tested. Major extracardiac anomalies were found in 40(40%), including 17/24(71%) with and 22/69(32%) without an abnormal karyotype, with VACTERL association in 9. Genetic and/or extracardiac pathology was identified in 37/58(64%) with a subaortic VSD, 5/15(33%) with a subpulmonic VSD, 9/24(38%) of those with AV valve atresia and 2/2(100%) with a remote VSD. A genetic abnormality was a significant predictor of fetal demise (9/37 vs 1/62 p < 0.01) or pregnancy termination (12/35 vs 9/64 p = 0.03). Conclusions: Fetal DORV is associated with a high rate of genetic abnormalities and extracardiac pathology. The presence of genetic abnormalities impacts prenatal outcomes and parental decision-making.

Original languageEnglish (US)
Pages (from-to)1118-1126
Number of pages9
JournalPrenatal Diagnosis
Volume41
Issue number9
DOIs
StatePublished - Aug 2021
Externally publishedYes

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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