Grown-up Congenital Heart (GUCH) Disease: Clinical challenges and role of electronic registries (GUCH & Heart Transplant)

Abstract

Background: Adult Congenital Heart Disease (ACHD), also known as Grown Up Congenital Heart Disease, .(GUCH) is increasingly recognized due to improved survival from childhood, but its clinical presentation can be highly variable, often mimicking common adult cardiovascular conditions. Early recognition, appropriate management, and long-term follow-up are essential.

Case Presentation: We report three adult patients with congenital heart disease. The first involved a 43-year-old male with Ebstein anomaly, presenting with breathlessness, abdominal distension, palpitations, and swelling of both legs, complicated by atrial fibrillation and acute kidney injury. Echocardiography revealed pulmonary hypertension severe tricuspid regurgitation with right ventricular failure and preserved left ventricular function. He was managed with oxygen, IV diuretics, electrolyte correction, antiarrhythmics, and supportive care, resulting in clinical improvement. The second patient was a 57-year-old female with type 2 diabetes mellitus, presenting with chest pain mimicking unstable angina. ECG showed ST depression, while echocardiography and coronary angiography revealed normal epicardial coronaries, pulmonary hypertension and normal left ventricular function. She was managed with antiplatelets, statins, beta-blockers, proton pump inhibitors, and supportive therapy and discharged in stable condition. The third patient was a 37 years old female patient with large ASD(OS) and PAH admitted with chest pain and breathlessness. ECG showed biventricular hypertrophy with sinus tachycardia and chest –ray showed dense lung infiltrates. She was treated with bronchodilator and systemic steroids and BiPAP support discharged in stable condition.

Discussion: These patients illustrate the heterogeneous presentation of ACHD in adults, ranging from right heart failure and arrhythmias to angina-like symptoms without coronary obstruction. Management requires a multidisciplinary approach, including medical therapy, surgical intervention, and, when indicated, heart transplantation. Transplant registries are critical for tracking outcomes, guiding clinical decisions, and improving long-term survival in this population.

Conclusion: Adult congenital heart disease requires timely recognition, individualized management, and long-term follow-up. Participation in transplant registries enhances patient outcomes, supports research, and informs evidence-based strategies for managing rare ACHD presentations.