Durand I, Hazelzet T, Gillibert A, Parrod C, David N, ElYoussef F, Brehin AC, Barre E. Archives of Cardiovascular Disease 2022;115 (335-347. doi: 10.1016/j.acvd.2022.03.005.
Take Home Points:
- Cardiac (in 42%) and extracardiac (in 37%) anomalies are common in the presence of PLSVC.
- The outcome in cases with isolated PLSVC is very good, while the outcome of those with associated anomalies may be poor depending on the associated anomalies.
- As associations are frequent, a thorough inspection of fetal anatomy is recommended when PLSVC is detected in the fetus.
- In the presence of other anomalies, genetic testing should be considered. In this study, 5 % of all patients with PLSVC had aneuploidy, and 21% of patients with PLSVC and other anomalies were eventually diagnosed with a genetic disorder.
- Postnatal echocardiography and a thorough physical examination is recommended in all newborns with prenatal diagnosis of PLSVC.
Commentary from Dr. Anna Tsirka (Hartford, CT, USA), section editor of Pediatric and Fetal Cardiology Journal Watch
The diagnosis of persistent LSVC (PLSVC) has been increasing since the introduction of the 3VT view into clinical practice. Most reports to date include only a small percentage of isolated PLSVC, and mostly PLSVC associated with other congenital heart disease.
This was a review of a prospective fetal echocardiography database at Rouen University Hospital from 2001 to 2018. The diagnosis of PLSVC was made in the 3VT view and confirmed in the long axis view. Other cardiac or extracardiac and genetic anomalies were recorded. Neonatal echocardiography, genetic test results and physical exam abnormal findings were also recorded in that database. Postnatal long term outcomes were obtained by chart review and phone call to the family.
Patients were divided in two groups: 1 with isolated PLSVC and 2 with other anomalies. Group 2 was subdivided: 2a with extracardiac anomalies, 2b with cardiac anomalies, 2cboth cardiac and extracardiac anomalies and 2d associated only with non-structural anomalies (increased nuchal cord, growth abnormalities, amniotic fluid disorders).
Point estimates of survival curves and survival rates at 1, 5 and 10 years were estimated by the Kaplan-Meier method with censorship on last news.
256 cases of PLSVC were included. 2 cases referred for suspicion of PLSVC were excluded, as the diagnosis in one was an aberrant drainage of the umbilical vein into a dilated coronary sinus, and the other had a total anomalous pulmonary venous return (TAPVR) to the cs.
113 were thought to be isolated (group 1). Group 2 patients were referred at an earlier gestational age (24.4 vs 28.6 weeks).
Overtime, the number of diagnosed cases increased, as shown below in Figure 3 from 18 cases (period 2001—2006) to 65 cases (period 2013—2018) while the birth rate in the area decreased from about 23,000 to 20,000 live births/year.
A total of 108 patients (42%) were found to have cardiac defects, most commonly VSDs (25%), conotruncal anomalies, LVOT obstruction, univentricular hearts and AVSD. 13.5% of cardiac and extracardiac anomalies were missed prenatally but all those were benign, or correctable.
In group 1, there were 2 intrauterine deaths and no patient was diagnosed with a genetic disorder. 8.8% of group 1 patients were found to have a cardiac defect postnatally (9 patients with VSD, 1 with a bicuspid aortic valve).
21% of group 2 patients were found to have a genetic abnormality. Among group 2 patients, only 70.6% resulted in a live birth and there were an additional 11 deaths postnatally in follow up.
Table 7 shows the postnatal mortality by group. Group 1 patients had excellent long term outcome. Their outcome was much higher than the groups associated with extracardiac or non-structural anomalies.
Interestingly, the outcome of the 4/19 cases of PLSVC associated with only non-structural anomalies (Group 2d) was poor, with three deaths and one postnatal diagnosis of CHARGE syndrome. Therefore, non-structural anomalies (of growth or amniotic fluid) seem important to consider in the prenatal assessment and counseling.