A 15-year-old female of Hispanic descent with no significant medical history presented to paediatric cardiology after five weeks of exertional chest pain, shortness of breath, and near-syncope. The symptoms were described as chest pain that was sharp and centrally located with associated shortness of breath and lightheadedness. Further, the chest pain occurred with minimal activity, lasted approximately five minutes, and resolved upon rest. She and her family denied a history of cardiac disease, including cardiomyopathies, early sudden cardiac deaths, and connective tissue disease.
On examination, heart rate was 110 bpm, blood pressure 90/60 mmHg, and oxygen saturation 100%. A grade III/VI systolic ejection murmur was appreciated at the left mid and right upper sternal border. The electrocardiogram was normal with no ST and T-wave abnormalities. A transthoracic echocardiogram revealed a large aneurysm of the left coronary sinus of Valsalva (1.6 × 2.6 cm), a mildly dilated aortic root (3.27 cm, z-score + 2.4), and mild aortic insufficiency (Supplementary Figures S1 and S2). The left main coronary artery appeared small with poor Doppler flow, and distal left anterior descending artery flow was noted. These findings raised concern for aortic rupture and ischaemia.
She was subsequently referred to the hospital for further evaluation. The patient remained haemodynamically stable with normal troponin. A CTA confirmed the aneurysm and compression of the left main coronary artery without evidence of dissection (Supplementary Figure S3).
Surgical intervention was performed during the admission, including a valve-sparing aortic root replacement (hemi-Yacoub procedure with 24 mm Valsalva grafts), ascending aorta replacement, and left main coronary artery patch plasty with autologous pericardium. Intraoperatively, severe inflammation and scarring were observed around the aortic root and coronary arteries, particularly the left sinus and proximal aorta. The endothelium overlying the left main coronary artery appeared friable and ulcerated. Pathologic analysis revealed an inflammatory infiltrate with foci of necrosis surrounded by neutrophilic granulocytes within the media of the excised blood vessel. Multinucleated giant cells were present, as were plasma cells. These findings confirmed Takayasu arteritis. The patient was subsequently evaluated for other vasculitides, of which none were found.
Brain and neck CTA were normal. The patient was started on pulse intravenous methylprednisolone, transitioned to oral prednisone, and discharged on postoperative day seven with aspirin, prednisone, famotidine, and furosemide. Echocardiography at two weeks post-op showed normal function, mild aortic insufficiency, and no recurrent aneurysm. Follow-up by paediatric rheumatology led to the initiation of adalimumab for disease-modifying therapy.
Discussion
Chest pain in adolescents is rarely of cardiac origin, with estimates suggesting a cardiac aetiology in only 8% of paediatric cases. Reference Chen, Duan and Li1 Exertional symptoms, syncope, and a pathologic murmur are important red flags. Reference Fogliazza, Cifaldi, Antoniol, Canducci and Esposito2 In this patient, these findings prompted expedited imaging and led to the diagnosis of a sinus of Valsalva aneurysm, a rare entity that accounts for <1% of CHD and is more common in males and Asian populations. Reference Feldman and Roman3
Sinus of Valsalva aneurysms typically arise from the right coronary sinus (70%) and may present with rupture, arrhythmia, or myocardial ischaemia. Reference Bass, Sharma and Alahmadi4 In this case, the aneurysm originated from the left sinus and was compressing the left main coronary artery, contributing to the patient’s exertional ischaemia. Diagnosis is typically confirmed with echocardiography and CTA. Reference Weinreich, Yu and Trost5
While many sinus of Valsalva aneurysms are congenital, acquired forms are associated with trauma, infection, or vasculitis. In our case, surgical and pathological findings revealed inflammation consistent with Takayasu arteritis, a rare large-vessel vasculitis affecting the aorta and its branches. Reference Trinidad, Surmachevska and Lala6 Takayasu arteritis is most common in women of Asian descent and typically presents between ages 20 and 40. Reference Onen and Akkoc7 However, of the large-vessel vasculitis, Takayasu arteritis is the most common in children, with up to 25% of children presenting in the chronic, stenotic phase of the disease, with symptoms related to end-organ ischaemia. Reference Aeschlimann, Yeung and Laxer8
Management of Takayasu arteritis includes corticosteroids for induction and early initiation of steroid-sparing agents to reduce relapse. Reference Bhandari, Butt and Ishfaq9 Our patient was started on high-dose steroids and transitioned to a tumour necrosis factor-α inhibitor after recovery. Early diagnosis and interdisciplinary management are essential to prevent long-term vascular complications in paediatric patients. Nevertheless, the disease course in children is often progressive, with many ultimately developing the chronic, stenotic phase associated with vessel narrowing and end-organ ischaemia if not treated promptly. Reference Aeschlimann, Yeung and Laxer8
Supplementary material
The supplementary material for this article can be found at https://doi.org/10.1017/S1047951125110470.
Financial support
This research received no specific grant from any funding agency, commercial or not-for-profit sectors.
Competing interests
The authors declare none.
Ethical standards
The authors assert that all procedures contributing to this work comply with the ethical standards of the relevant national guidelines on human experimentation and with the Helsinki Declaration of 1975, as revised in 2008.
