Via Research Recognition Day Program VCOM-Carolinas 2025

Case Reports

A Presentation of Rare Congenital Cardiac Anomalies in an Adult Patient Miranda Miller OMS-II, Kyler Strange OMS-II, Anand Rabara OMS-II, Kashfaa Tasmim OMS-II Edward Via College of Osteopathic Medicine, Spartanburg, South Carolina Robert MacDonald, MD; Marc Ciesco, DO Context Imaging Comments

Diagnosis ● Previous studies have explored late diagnosis of CCTGA and found that the diagnosis was missed in consultations, despite cardiac imaging, and misdiagnosed in adulthood leading to late referral for treatment, despite significant symptoms of systemic atrioventricular valve regurgitation (Beauchesne et al., 2002). ● One study compared results between patients with CCTGA with intact ventricular septa versus patients with ventricular septal defects (VSD) and found that 86.4% of patients without VSD had systemic atrioventricular valve regurgitation, due to the fact that the morphologic right ventricle in the systemic ventricle position is not built to withstand the pressure load that is required (Liu et. al, 2021). Ultimately, the study found that treatment with valve replacement was associated with decreased incidence of death, heart transplantation, and congestive heart failure (Liu et. al, 2021). ● Another study found that an Ebstein’s anomaly can be noted in patients with CCTGA due to an inferiorly displaced anatomical tricuspid valve in the mitral valve position and can progress to ventricular dysfunction (Amaral et. al 2022) ● Based on the patient in the study and previous research, it can be concluded that a likely complication of later diagnosis of CCTGA is valve insufficiency and inability of the morphologic right ventricle to withstand the pressure of the systemic load. Based on successful treatment of the patient in this study, valve replacement is a beneficial and likely necessary outcome for other similar patients. Because many individuals with CCTGA and EA are diagnosed in early childhood, there are a lack of studies addressing treatment of patients with both conditions in adulthood. This case study exhibits successful diagnosis and treatment of a patient with both anomalies, potentially serving as as helpful resource to future physicians and highlighting the need for further research.

Report of Case Congenitally corrected transposition of the great arteries (CCTGA) is a rare congenital heart defect characterized by atrio-ventricular and ventriculo-arterial discordance. CCTGA accounts for less than 1% of all congenital heart defects, affecting around 0.02 of every 1000 live births. Ebstein's Anomaly (EA) is a cyanotic congenital heart defect present in 1 of every 100,000 live births, in which the tricuspid valve is apically displaced resulting in atrialization of the right ventricle, tricuspid regurgitation, and atrial enlargement. These conditions are typically diagnosed in infancy and while CCTGA cases have been documented in adults, there is still inconclusive research on the best way to treat the condition when discovered in adulthood. At the age of 22, the patient visited a primary care physician for routine medical clearance for employment. A posterior-anterior (PA) and lateral chest radiograph revealed what the physician noted to be a “peculiar configuration”. Further evaluation was not completed until the patient was hospitalized years later. At the age of 35 years old, following an acute presentation of breathlessness and non-radiating chest pain persisting beyond exertion, the patient was admitted to the emergency department. An emergent echocardiogram was completed, revealing acute pulmonary edema due to tricuspid regurgitation, as well as CCTGA and EA. Surgery was indicated to remove the faulty valve. Replacement with a 29mm St. Jude prosthesis was completed at the time. This inciting event prompted continuation of cardiac evaluation and treatment to manage his congenital condition. This patient is currently 68 years old and in stable condition, managed by a biventricular pacemaker and several heart failure medications including Warfarin, metoprolol, empaglifozin, sacubitril-valsartan, and aspirin.

Figure 1. Labelled four chamber of a normal patient’s heart. Notice the size of the chambers and the level position of the mitral and tricuspid valves.

Figure 2. Labelled four chamber view of patient’s heart. Morphological right ventricle on the left side (Red Star), shadowing from replaced mechanical tricuspid valve (Green Rectangle), morphological left ventricle on the right side (Orange Star), and position of mitral valve (Blue Oval).

References

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2025 Research Recognition Day

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