Adult Presentation of Congenital Heart Disease

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Introduction

Based on estimates in 2016, there are approximately 1.4 million adults living with congenital heart disease in the United States.1 The majority of these patients have simple or moderately complex lesions.1 While some patients are not diagnosed in childhood due to issues with access to care, some patients with simple or moderately complex lesions may not display symptoms or signs of congenital heart disease in childhood. Consequently, they may be diagnosed with congenital heart disease in adulthood, either when they present with symptoms or findings are noted incidentally in the evaluation of noncardiac symptoms. While echocardiography is often the primary imaging modality, cardiac computed tomography (CCT) and cardiac magnetic resonance (CMR) can be used complementarily with other noninvasive imaging modalities for diagnosis and management of adults with congenital heart disease.2 Frequently, congenital defects are identified in CCT and MRI studies performed for noncardiac indications.

The purpose of this review article is to summarize the use of CCT and CMR in the diagnosis and management of congenital lesions that may present in adulthood. Recognizing that there are reports of the entire spectrum of congenital heart defects diagnosed in adulthood, we have focused on lesions that may present in adulthood despite routine access to care throughout childhood: bicuspid aortic valve (BAV) and associated lesions, shunt lesions, congenitally corrected transposition of the great arteries (ccTGA) and anomalous coronary arteries.

Section snippets

Bicuspid Aortic Valve and Associated Lesions

BAV is the most common congenital cardiac abnormality in adults, with an incidence of 1%-2% in the adult population. Many patients with BAV have associated lesions, ranging from aortic abnormalities (aortic dilation, aortic coarctation) to intracardiac lesions (ventricular septal defects [VSDs], hypoplastic left heart syndrome).3 The aortic valve becomes dysfunctional in the majority of patients, with some patients having predominant aortic stenosis (AS) or aortic regurgitant and others having

Occult Shunts

Most cardiac shunts are detected during neonatal period or infancy, and a VSD is the most common congenital heart defect.27 Adult cardiologists are mostly involved in the care of residual lesions or sequela of shunt repair. The most common cardiac shunt incidentally detected in adults is a patent foramen ovale, and these are preferably assessed by echocardiography. A few intra and extracardiac shunts are more challenging to diagnose using echocardiography, and are more likely to be identified

Congenitally Corrected Transposition of the Great Arteries

ccTGA, also described as L-loop TGA, is characterized by atrioventricular (AV) and ventriculoarterial discordance. Venous blood returns from the SVC and inferior vena cava into the morphologic right atrium, across the morphological mitral valve into the morphologic left ventricle. The morphologic left ventricle is in the subpulmonic position and is connected to the pulmonary arteries by the pulmonary valve. Pulmonary venous inflow enters the morphological left atrium and crosses the

Anomalous Coronaries

The true prevalence of anomalous origin of the coronary arteries from opposite sinus of Valsalva is unknown, as few studies have screened patients for this diagnosis. However, the estimated frequency is approximately 0.03% for an anomalous left coronary origin, and 0.28% for an anomalous right coronary artery.46 The risk of sudden cardiac death is increased, particularly during or following a period of strenuous exercise, especially in patients with an interarterial course of an anomalous left

Conclusion

CCT and CMR play a critical role for confirming a suspected echocardiography diagnosis of congenital heart disease in adults. Most importantly, the 3D capabilities allow for clear delineation of cardiac defects and associated vascular abnormalities. CCT and CMR are useful for establishing suitability and planning intravascular and surgical interventions when indicated.

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References (49)

  • SA Goldstein et al.

    Multimodality imaging of diseases of the thoracic aorta in adults: From the American Society of Echocardiography and the European Association of Cardiovascular Imaging: Endorsed by the Society of Cardiovascular Computed Tomography and Society for Cardiovascular Magnetic Resonance

    J Am Soc Echocardiogr

    (2015)
  • J Schulz-Menger et al.

    Standardized image interpretation and post-processing in cardiovascular magnetic resonance - 2020 update: Society for Cardiovascular Magnetic Resonance (SCMR): Board of Trustees Task Force on Standardized Post-Processing

    J Cardiovasc Magn Reson

    (2020)
  • S Muzzarelli et al.

    Usefulness of cardiovascular magnetic resonance imaging to predict the need for intervention in patients with coarctation of the aorta

    Am J Cardiol

    (2012)
  • RW McDonald et al.

    Echocardiographic imaging techniques with subcostal and right parasternal longitudinal views in detecting sinus venosus atrial septal defects

    J Am Soc Echocardiogr

    (1996)
  • CS Broberg et al.

    Magnetic resonance imaging images in adult congenital heart disease

    Curr Probl Cardiol

    (2011)
  • NN Kathiria et al.

    Advances in MR imaging assessment of adults with congenital heart disease

    Magn Reson Imaging Clin N Am

    (2015)
  • KS Teo et al.

    Assessment of atrial septal defects in adults comparing cardiovascular magnetic resonance with transoesophageal echocardiography

    J Cardiovasc Magn Reson

    (2010)
  • HM Connolly et al.

    Management of the adult patient with congenitally corrected transposition: Challenges and uncertainties

    Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu

    (2019)
  • LM Beauchesne et al.

    Outcome of the unoperated adult who presents with congenitally corrected transposition of the great arteries

    J Am Coll Cardiol

    (2002)
  • MK Cheezum et al.

    Anomalous aortic origin of a coronary artery from the inappropriate sinus of valsalva

    J Am Coll Cardiol

    (2017)
  • CA Warnes et al.

    ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in Collaboration With the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons

    J Am Coll Cardiol

    (2008)
  • SM Gilboa et al.

    Congenital heart defects in the United States: Estimating the magnitude of the affected population in 2010

    Circulation

    (2016)
  • A Della Corte et al.

    Predictors of ascending aortic dilatation with bicuspid aortic valve: A wide spectrum of disease expression

    Eur J Cardiothorac Surg

    (2007)
  • HI Michelena et al.

    Incidence of aortic complications in patients with bicuspid aortic valves

    JAMA

    (2011)
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