Clinical introduction A 26-year-old man with an unremarkable medical history sensed a momentary retrosternal ‘pop’ followed by overwhelming dyspnoea, without reporting any prodromal symptoms. At the emergency department, he had a significant tachycardia (170 bpm) and an extreme low diastolic blood pressure (<30 mm Hg). A loud, harsh and continuous murmur could be maximally auscultated at the right lower sternal border. ECG revealed global ST depression with ST elevation in lead aVR. Transthoracic echocardiography revealed severe aortic insufficiency and a high index of suspicion for a congenital cardiac anomaly; however, findings remained inconclusive. Transoesophageal echocardiography (figure 1A,B, online supplementary videos 1 and 2), cardiac CT (online supplementary figure 1A) and cardiac catheterisation (online supplementary figure 1B, supplementary video 3) were performed for diagnostic confirmation.
Supplementary file 3
Supplementary file 4
Question What congenital cardiac anomaly did the patient have?
Congenital bicuspid aortic valve
Doubly committed subarterial ventricular septal defect (VSD)
Congenital sinus of Valsalva aneurysm
Coronary arteriovenous fistula
- congenital heart disease
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