Management of congenitally corrected transposition from fetal diagnosis to adulthood

ABSTRACT

Introduction

Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital heart defect characterized by atrioventricular and ventriculo-arterial discordance. CcTGA can be diagnosed at any stage of life. The natural history of the disease depends on concomitant anomalies present in most of the cases, progression of systemic ventricular dysfunction and conduction disturbances.

Areas covered

This review describes diagnosis of the anomaly and summarizes the current knowledge on etiology and prognosis in ccTGA patients. Furthermore, interventional and pharmacological approaches to ccTGA management are discussed. The areas requiring further research are highlighted.

Expert opinion

Although advances in diagnosis and treatment continue to improve outcomes for ccTGA, patients are burdened with significant morbidity and mortality. Optimal approaches to surgical management of the anomaly, as well as prevention and management of heart failure, are still not established. Future research should focus on the long-term effect of anatomic repair, potential benefits of novel pharmacological strategies for heart failure therapy, and the optimal mode of pacing in ccTGA patients. However, the issues might be difficult to address due to rarity of the disease and its heterogenous clinical presentation. As the life-expectancy of ccTGA patients improves, acquired cardiovascular disorders will become another serious concern.

KEYWORDS:

• Congenital heart disease
• congenitally corrected transposition of the great arteries
• systemic right ventricle
• heart failure
• pacing
• pediatric cardiology
• cardiac surgery

Article highlights

• Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital heart disease characterized by atrioventricular and ventriculo-arterial discordance. As a result of double discordance, the morphologically right ventricle supports systemic circulation.

• CcTGA is rarely an isolated defect and other heart lesions coexist in over 90% of cases. It can be diagnosed at every stage of life: from fetus to adult with very advanced age.

• The clinical course of ccTGA can be diverse. Systemic (morphologically right) ventricular function, the degree of systemic (morphologically tricuspid) atrioventricular valve regurgitation, associated cardiac malformations, and dysrhythmias are the key prognostic factors.

• The optimal operative strategy for ccTGA has not yet been established. Surgical interventions include physiologic correction (repair of concomitant cardiac abnormalities), anatomic correction (double-switch procedure that restores the morphologically left ventricle into the subaortic position), and palliative procedures.

• There is a very limited evidence for the use of the standard pharmacotherapy of heart failure in order to improve sRV function in ccTGA patients. Properly designed, multicenter clinical studies are warranted to assess the benefit of standard and novel heart failure drugs in this population.

• Patients with ccTGA require individualized approach and life-long follow-up in a center experienced in congenital heart disease.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.