Prenatal diagnosis and lifelong follow-up of a patient with right atrial appendage aneurysm
Presented By:
Ricardo Argueta-Morales, MD; Rolando Obiols, MD; Gonzalo S. Calvimontes, MD; Flor dM. García-González, MD
Pediatric Cardiology, Unidad de Cirugía Cardiovascular de Guatemala, Genetics, INVEGEM Guatemala and Universidad de San Carlos de Guatemala
dr.argueta@gmail.comOverview:
Introduction: Congenital right atrial appendage aneurysm (RAAA) is an extremely rare malformation of unknown etiology. Patients may be asymptomatic or present with arrhythmia or recurrent pulmonary embolism. There are no guidelines for treating this condition; however, surgical resection of RAAA has been performed successfully. The data available in the literature is scarce, and therefore, the management and timing of surgery for this condition remains controversial. We present our experience managing a patient with fetal RAAA diagnosis that has continued to be followed through the extent of his life at Unidad de Cirugía Cardiovascular de Guatemala (UNICAR).
Case description: Male patient with fetal-echocardiogram diagnosis of right atrial and aortic root dilation. On follow-up, newborn-echocardiogram diagnosed RAAA. One-year-of-age echocardiogram reported 20cm2 area RAAA and 21mm (z+3.6) aortic-root dilation and patient was asymptomatic otherwise. Patient continues follow-up with yearly echocardiogram and electrocardiogram. Progressive enlargement of RAAA has been documented with last RAAA area 26cm2, and aortic-root 27mm (z+2). Cardiac-MRI reported similar findings. No thrombosis nor arrhythmias have ever been documented (four normal Holter monitoring studies). Comprehensive gene analysis and whole-exome-sequencing ruled out monogenic association. Patient is currently 9-years-old and complains of occasional chest pain and palpitations, taking atenolol and aspirin.
Discussion: We present a patient that was diagnosed as a fetus with RAAA and has had close monitoring since birth. RAAA presents as aneurysmal dilation with no focal pericardial defect. RAAA is most commonly diagnosed with echocardiogram during the third decade of life, and the most common symptom is palpitation caused by atrial tachyarrhythmia due to atrial dilation. However, patients can be diagnosed as a fetus or during neonatal period. Occasionally, RAAA is an incidental finding after a thrombotic event or on a chest imaging study. Potentially fatal complications of RAAA include aneurysm rupture and sudden death. This is due to progressive thinning of the right atrial wall and is why our patient has periodic echocardiographic evaluation. Atrial tachyarrhythmia originating from RAAA is usually resistant to antiarrhythmic medication therapy, and radiofrequency catheter ablation is risky with a low success rate and high recurrence rate. Surgical resection of RAAA is a safe, effective, and minimally-invasive option. Therefore, if atrial arrythmia or thrombotic symptoms ensued, we may be prompted to consider surgery. Our patient has only occasional mild symptoms at 9 years of age, and we will continue with close follow-up with periodic echocardiogram, electrocardiogram, and thrombosis monitoring.
Conclusions: Treatment of patients with RAAA continues to be challenging as data available is scarce. Only 34 patients with RAAA have been reported in the literature. Asymptomatic RAAA should be managed conservatively, and include anticoagulation therapy to prevent thrombus formation and close follow-up. Surgical intervention should be considered for those with symptoms or enlarging aneurysm. Further studies are needed to determine the best management approach for of these patients.
Case description: Male patient with fetal-echocardiogram diagnosis of right atrial and aortic root dilation. On follow-up, newborn-echocardiogram diagnosed RAAA. One-year-of-age echocardiogram reported 20cm2 area RAAA and 21mm (z+3.6) aortic-root dilation and patient was asymptomatic otherwise. Patient continues follow-up with yearly echocardiogram and electrocardiogram. Progressive enlargement of RAAA has been documented with last RAAA area 26cm2, and aortic-root 27mm (z+2). Cardiac-MRI reported similar findings. No thrombosis nor arrhythmias have ever been documented (four normal Holter monitoring studies). Comprehensive gene analysis and whole-exome-sequencing ruled out monogenic association. Patient is currently 9-years-old and complains of occasional chest pain and palpitations, taking atenolol and aspirin.
Discussion: We present a patient that was diagnosed as a fetus with RAAA and has had close monitoring since birth. RAAA presents as aneurysmal dilation with no focal pericardial defect. RAAA is most commonly diagnosed with echocardiogram during the third decade of life, and the most common symptom is palpitation caused by atrial tachyarrhythmia due to atrial dilation. However, patients can be diagnosed as a fetus or during neonatal period. Occasionally, RAAA is an incidental finding after a thrombotic event or on a chest imaging study. Potentially fatal complications of RAAA include aneurysm rupture and sudden death. This is due to progressive thinning of the right atrial wall and is why our patient has periodic echocardiographic evaluation. Atrial tachyarrhythmia originating from RAAA is usually resistant to antiarrhythmic medication therapy, and radiofrequency catheter ablation is risky with a low success rate and high recurrence rate. Surgical resection of RAAA is a safe, effective, and minimally-invasive option. Therefore, if atrial arrythmia or thrombotic symptoms ensued, we may be prompted to consider surgery. Our patient has only occasional mild symptoms at 9 years of age, and we will continue with close follow-up with periodic echocardiogram, electrocardiogram, and thrombosis monitoring.
Conclusions: Treatment of patients with RAAA continues to be challenging as data available is scarce. Only 34 patients with RAAA have been reported in the literature. Asymptomatic RAAA should be managed conservatively, and include anticoagulation therapy to prevent thrombus formation and close follow-up. Surgical intervention should be considered for those with symptoms or enlarging aneurysm. Further studies are needed to determine the best management approach for of these patients.
