Common diagnostic errors in adults with congenital heart disease

Eur Heart J. 2023 Sep 7;44(34):3217-3227. doi: 10.1093/eurheartj/ehac717.

Abstract

Owing to the great advances in the care for children with congenital heart disease by paediatric cardiac surgeons and cardiologists, there are ever increasing numbers of patients with congenital heart disease who reach adult life. At some stage during the late teenage years or soon after, these patients 'transition' from paediatric cardiac care to surveillance by cardiologists who look after adults. Many such specialists, however, are more familiar with commoner acquired heart problems such as coronary disease, heart failure, and arrhythmia in structurally normal hearts and less familiar with congenital heart disease. For this reason, international guidelines have suggested that the care of young adults with congenital heart disease take place in designated specialist adult congenital heart disease centres. It remains very important, however, for general cardiologists to have a good understanding of many aspects of adult congenital heart disease, including common pitfalls to avoid and, importantly, when to refer on, to a specialist centre. To help healthcare providers across the spectrum of cardiology practice to address common themes in adult congenital heart disease, this state-of-the-art review provides a series of case vignettes to illustrate frequent diagnostic problems that we have seen in our tertiary-level adult congenital heart disease centres, which are sometimes encountered in general cardiology settings. These include commonly 'missed' diagnoses, or errors with diagnosis or management, in these often very complex patients.

Keywords: Coarctation of the aorta; Cyanosis; Eisenmenger; Fontan; Tetralogy of Fallot.

MeSH terms

  • Adolescent
  • Adult
  • Cardiology*
  • Child
  • Diagnostic Errors
  • Heart Defects, Congenital* / complications
  • Heart Defects, Congenital* / diagnosis
  • Heart Defects, Congenital* / surgery
  • Humans
  • Young Adult