The prenatal diagnosis of, and short-term outcome for, patients with congenitally corrected transposition

Abstract

Congenitally corrected transposition is a rare congenital anomaly, with only a few cases diagnosed and reported prenatally even in the largest fetal series. To determine the morphologic features and outcome for the lesion as recognized during fetal life, we reviewed the fetal and postnatal echocardiograms and medical records of 11 consecutive cases of congenitally corrected transposition. These were identified among 230 (4.7%) consecutive cases of structural cardiac disease referred to our fetal cardiology unit over a period of 4 years. The mean gestational age at diagnosis was 24.7 weeks. Reasons for referral were suspected complete transposition, abnormal position of the heart, and bradyarrhythmias. Associated cardiac lesions included an abnormal cardiac position in 6 cases, ventricular septal defect in 8, obstruction of the subpulmonary outflow tract in 6, tricuspid valvar displacement in 5, and complete atrioventricular block in 2. Only 3 of the cases had mild tricuspid regurgitation prior to birth. Termination was chosen in 4 cases with severe obstruction to pulmonary flow. Of the remaining cases, 2 patients died at 3 and 12 months after birth, respectively. Both developed significant tricuspid regurgitation associated with unexpected major arrhythmias. The remaining 5 patients are alive and relatively well at a mean follow-up of 25.4 months. An epicardial pacemaker was inserted in 1 because of complete atrioventricular block. We conclude that prenatal counseling must be guarded following the diagnosis of congenitally corrected transposition, even in fetuses with an apparently favorable state at initial examination. Some of these cases may undergo major and unexpected changes, particularly with regard to cardiac rhythm and tricuspid valvar function, with concomitant significant changes in prognosis.

Prenatal Diagnosis and Outcome of Congenital Corrected Transposition of the Great Arteries – A Multicenter Report of 69 Cases

“…We had four cases with anomalies in the renal and urinary system, three cases of anomalies in the gastrointestinal tract, one case with central nervous system anomaly and one case with Ivemark syndrome. Prenatal karyotyping of the fetus was available in 30/54 (55.6 %) cases with confirmed chromosomal anomalies in ▪ DORV 1/7 (14) ▪ atrioventricular block 1/7 (14) ASD, RAA, left persistent superior vena cava 1/7 (14) unknown 1/7 (14) 4/30 (13.3 %). In two patients a microdeletion 22q11 was found, one fetus had a duplication of chromosome 5 and there was one chromosomal inversion (inv(7)(q34q36)).…”

“…Although most neonates are clinically stable at birth, the long-term outcome of this cardiac anomaly is dependent on the myocardial function of the morphologic right ventricle, tricuspid valve regurgitation and the development of congenital heart block [7][8][9][10][11][12]. Due to the rarity of this pathology, outcome data on prenatally diagnosed ccTGA is scarce and is based mainly on case series or studies with small numbers of patients [5,[13][14][15][16][17]. The aim of our study was firstly to investigate the natural history and associated anomalies and secondly to analyze the outcome of patients in prenatally diagnosed ccTGA.…”

Clinical applicability of monitoring pulmonary artery blood flow acceleration time variations inmonitoring fetal pulmonary artery pressure

“…However, in some cases, tricuspid or pulmonary valve regurgitation was too mild to be detected, or difficult to detect due to the position of the fetus. 15 Determination of the ratio of pulmonary artery blood flow AT and ET is a novel approach for monitoring pulmonary artery pressure. The results of this study indicated that AT was negatively correlated with PASP, and that increased PASP could lead to a decrease in AT.…”

Malformations cardiaques

“…Les deux anomalies peuvent en effet coexister dans la même famille, en particulier en cas de consanguinité. La présentation du pronostic doit cependant rester réservée [342]. Lors du diagnostic, deux situations doivent être envisagées : 1. la TGVc n'est pas isolée ou s'accompagne déjà de manifestations de mauvaise tolérance.…”

“…Dans les grossesses gémellaires, un foetus peut être atteint et l'autre non [341]. Si cette phase se déroule sans incident, l'enfant reste menacé par l'apparition inopinée d'un trouble conductif nécessitant l'implantation d'un pacemaker ou, plus rarement, de troubles du rythme [337,342]. Le pronostic est alors très péjoratif, avec un risque élevé de MFIU en cas de trouble conductif ou de décès dans les premiers mois de vie en cas d'insuffisance tricuspide, avec peu de possibilités chirurgicales ; 2. la TGVc apparaît isolée lors du diagnostic, avec une tricuspide bien continente.…”