Adult Presentation of Congenital Heart Disease
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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