What is the incidence of underlying genetic or chromosomal abnormalities in individuals with persistent left superior vena cava?

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Incidence of Genetic Abnormalities with Persistent Left Superior Vena Cava

When PLSVC is truly isolated on comprehensive prenatal ultrasound, the incidence of chromosomal abnormalities is approximately 7%, but when PLSVC is associated with other cardiac or extracardiac anomalies, the rate increases dramatically to 12.5-22%. 1, 2, 3

Risk Stratification Based on Associated Findings

Isolated PLSVC

  • Chromosomal abnormalities occur in 7.0% (95% CI, 2.7-13.0%) of cases when PLSVC appears isolated on detailed prenatal ultrasound 3
  • Among 39 strictly isolated PLSVC cases in one series, zero genetic or syndromic anomalies were identified, emphasizing the importance of truly isolated findings 1
  • The prognosis is excellent when PLSVC remains isolated, with 100% survival in isolated cases 4

PLSVC with Associated Anomalies

  • Overall chromosomal abnormality rate is 12.5% (95% CI, 9.0-16.4%) across all PLSVC cases regardless of associated findings 3
  • When PLSVC is associated with cardiovascular defects, the genetic abnormality rate reaches 22% 1
  • When PLSVC is found with variants of the venous/arterial system alone (such as aberrant right subclavian artery or absent ductus venosus), 22% have genetic anomalies 1
  • Among fetuses with both extracardiac and cardiovascular defects plus PLSVC, genetic concerns are identified in a substantial proportion 1

Specific Genetic Abnormalities Identified

The spectrum of genetic abnormalities includes:

  • 23 aneuploidies (most common chromosomal abnormality) 1
  • 15 pathogenic microdeletions/duplications detected by array-CGH 1
  • 5 variants of unknown significance 1
  • 12 cases of VACTERL association 1
  • 12 cases of heterotaxy syndrome 1
  • Chromosomal deletions of 8p23.1 and other chromosomal defects have been reported in association with left ventricular non-compaction, which can coexist with PLSVC 5

Critical Diagnostic Pitfalls

The "Isolated" PLSVC May Not Be Truly Isolated

  • Additional intracardiac anomalies are missed at prenatal ultrasound in 2.4% of cases and only detected postnatally 3
  • Additional extracardiac anomalies are missed at prenatal ultrasound in 6.7% of cases 3
  • Coarctation of the aorta develops in 21.3% (95% CI, 13.6-30.3%) of cases initially thought to be isolated PLSVC, often manifesting later in pregnancy or postnatally 3
  • Seven infants in one series had aortic coarctation diagnosed only at birth despite prenatal evaluation 1

Associated Cardiac Defects Requiring Vigilance

  • Right heart enlargement is the most common cardiovascular abnormality associated with PLSVC 6
  • Ventricular septal defect (VSD) is the most common individual heart defect, observed in nine fetuses in one series 4
  • Septal defects as a group are the most frequent cardiac anomalies 4
  • Coarctation of the aorta (COA) or interrupted aortic arch (IAA) require specific monitoring 6

Clinical Management Algorithm

When PLSVC is Detected Prenatally:

  1. Perform comprehensive detailed ultrasound in a tertiary center to identify all associated anomalies 1

    • Evaluate cardiovascular system thoroughly for right heart enlargement, VSD, COA, IAA 6
    • Assess for single umbilical artery (second most common associated finding) 6
    • Screen digestive and urinary systems 6
    • Document all venous/arterial variants (aberrant subclavian artery, absent ductus venosus) 1

  2. Offer invasive prenatal diagnosis with array-CGH when PLSVC is non-isolated after detailed ultrasound evaluation 1

  3. Continue serial monitoring throughout pregnancy even in apparently isolated cases to detect late-developing coarctation of the aorta 3

    • Monitor right heart size 6
    • Monitor ventricular septum 6
    • Monitor aortic arch continuously 6

  4. Postnatal echocardiography is mandatory even when prenatal ultrasound suggests isolated PLSVC, given the 2.4% rate of missed intracardiac anomalies 3

Prognostic Implications

  • Outcome is significantly worse when PLSVC is associated with cardiac defects (33.3% survival) compared to those without cardiac anomalies (84.6% survival, p=0.009) 4
  • Survival rates vary: isolated PLSVC 100%, with extracardiac anomalies 75%, with cardiac anomalies 50%, with both 22.2% 4
  • The incidence of PLSVC is higher in high-risk pregnancies (1.1%) compared to low-risk pregnancies (0.5%), and chromosomally abnormal fetuses have a 7.8% incidence versus 0.4% in normal fetuses 2

References

3
Research

Systematic review and meta-analysis of persistent left superior vena cava on prenatal ultrasound: associated anomalies, diagnostic accuracy and postnatal outcome.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2016

5
Guideline

Genetic Basis and Clinical Management of Left Ventricular Non‑Compaction (LVNC)

Praxis Medical Insights: Practical Summaries of Clinical Guidelines, 2026

6
Research

Prenatal diagnosis of Type I persistent left superior vena cava and its correlation with congenital cardiac comorbidities.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology, 2025

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Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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