Abstract:Aneurysms of one of the aortic sinuses of Valsalva are rare congenital or acquired lesions. Here we present the case of an adolescent with Down syndrome with ruptured aneurysm of the right coronary sinus into the right atrium. All sinuses of Valsalva were normal during cardiological screening owing to Down syndrome at the age of 2 weeks. Paediatricians should have a low threshold for referring patients with Down syndrome for cardiac re-evaluation because of the new onset of cardiac symptoms or cardiac physical… Show more
“…Bicuspic aortic vavle is a common cardiac malformation affecting 0.5% – 2% of the population, while SoVA has an estimated prevalence of only 0.09% (2, 4). There have been case reports of BAV (6, 7) and SoVA (3, 8) in patients with trisomy 21, but the relative risk of either anomaly’s association with trisomy 21 has not been reported.…”
A 19-month-old girl with trisomy 21 and a congenitally bicuspid aortic valve died following a short febrile illness. Autopsy disclosed pericarditis, epimyocardial abscess, infective endocarditis, and a sinus of Valsalva aneurysm. Microscopy demonstrated continuity between the aortic wall and valve leaflet, consistent with an acquired aneurysm. Abnormal hemodynamics associated with the valve malformation likely facilitated endocarditis.
“…Bicuspic aortic vavle is a common cardiac malformation affecting 0.5% – 2% of the population, while SoVA has an estimated prevalence of only 0.09% (2, 4). There have been case reports of BAV (6, 7) and SoVA (3, 8) in patients with trisomy 21, but the relative risk of either anomaly’s association with trisomy 21 has not been reported.…”
A 19-month-old girl with trisomy 21 and a congenitally bicuspid aortic valve died following a short febrile illness. Autopsy disclosed pericarditis, epimyocardial abscess, infective endocarditis, and a sinus of Valsalva aneurysm. Microscopy demonstrated continuity between the aortic wall and valve leaflet, consistent with an acquired aneurysm. Abnormal hemodynamics associated with the valve malformation likely facilitated endocarditis.
“…5 Multiple etiologies for Valsalva aneurysms have been suggested and reported, most notably inflammatory processes and connective tissue disorders. Genetic syndromes, including 22q11.2 deletion, 6 Down syndrome, [7][8][9] Wildervanck syndrome, 10 and Noonan syndrome, 11,12 have also been reported. To our knowledge, our case report is the first to report an SOV aneurysm in a patient with trisomy 13.…”
This report describes a unique case involving an obese 16-year-old boy with a mosaic form of trisomy 13 and no previous cardiac history who presented with a new murmur, hypertension, pleural effusions, and congestive heart failure in the context of sore throat and fever. Evaluation revealed a diagnosis of ruptured noncoronary sinus of Valsalva (SOV) aneurysm. The diagnosis and surgical management of a ruptured noncoronary SOV aneurysm in a pediatric patient are briefly outlined. An SOV aneurysm is an anatomic dilation of one of the sinuses of the aortic root. Aneurysmal dilation occurs more commonly in the right aortic sinus (70%-80%), compared to the noncoronary sinus (23%-25%), and more rarely the left coronary sinus (5%). Rupture of these aneurysms has been reported to be both spontaneous and secondary to physical exertion, hypertension, or trauma. Signs of rupture include a continuous murmur, patients may present with chest pain or with symptoms of acute congestive heart failure. Diagnosis, in this case, was made by transthoracic echocardiography with careful interpretation of color Doppler images.
“…The rupture of SOVA is more frequent into right ventricular outflow tract (60-90%) [1]. The symptomatic aneurysmal dilatation of sinuses is rare in children [3,4]. In general, the rough incidence is 0.09% in the general population.…”
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