Case presentation

A 34-year-old woman with Turner syndrome, diagnosed at age 15, was referred due to aortic coarctation. Two years prior, she presented to the emergency room with a sudden-onset headache and right-sided body weakness. Her blood pressure in the left arm was severely elevated (192/110 mmHg), and a brain CT scan revealed findings consistent with a haemorrhagic stroke. The patient was hospitalised and received medical therapy for blood pressure management in a hospital in her city of origin. Later, it was decided to perform an echocardiogram to rule out a cardiac abnormality.

On physical examination, a patient with Turner’s phenotype had right hemiparesis with asymmetry on the left side of the face. During a subsequent cardiology evaluation, a systolic murmur was detected. An echocardiogram confirmed aortic coarctation. She was started on antihypertensive therapy (valsartan and amlodipine) and referred to cardiothoracic surgery for further management.

The diagnostic workup revealed no evidence of myocardial hypertrophy or cardiac enlargement. Coronary angiography further excluded the presence of coronary artery disease.

As an initial management, a transthoracic ultrasound was performed, where the suprasternal view found continuity between the left carotid and left subclavian arteries. A contrast-enhanced CT angiography showed interruption of type B aortic arch with a significant proliferation of collateral circulation observed surrounding the descending aorta, notably featuring dilated right internal mammary artery and hypertrophied intercostal vessels, partial anomalous pulmonary venous connection, and persistent left superior vena cava. Diameters of ascending aorta and aortic root were 42.5 × 40 mm (Indexed 36 mm/m²) and 35 × 30 mm (Indexed 28.4 mm/m²), respectively (Figure 1). Transesophageal echocardiographic evaluation detected a bicuspid aortic valve configuration accompanied by mild stenosis. The valve morphology was Sievers type 0 with a latero-lateral variant. Discrepant findings between modalities were noted, with echocardiography showing a non-significant gradient while CT demonstrated the interrupted aortic arch morphology.

Figure 1.

( a ) CT angiography shows interrupted aortic arch between the left carotid and left subclavian artery. ( b ) Large bilateral collateral vessels connect the subclavian arteries with the descending segment of the thoracic aorta and enlarged internal mammary arteries. ( c ) Persistent left superior vena connected to the coronary sinus. ( d ) Anomalous right superior pulmonary vein connected to the superior vena cava.

The case was presented to the heart team, and surgical management was chosen. It was agreed to perform Tyrone David surgery and aortic arch restoration. Given the patient’s young age, the David procedure was selected to eliminate the need for lifelong anticoagulation. Furthermore, modern assisted reproductive technologies offer viable options for future childbearing. The approach was by median sternotomy. The arterial cannulation was done in the femoral artery and brachiocephalic trunk, and bicaval cannulation was performed for venous drainage.

Once inside cardiopulmonary bypass with crystalloid cardioplegic solution, the first part of the operation began, interposition of a 30 mm straight vascular Dacron tube was anastomosed to reconnect the interrupted aorta between the ascending aorta and the descending portions of the aorta. Subsequently, the dilated root was replaced by a 23 mm diameter Dacron graft with aortic valve sparing. The correction of the anomalous venous drainage consisted of disconnecting the right superior lobular pulmonary venous drainage from the superior vena cava and redirecting it to the right superior pulmonary vein by anastomosing an 8 mm polytetrafluoroethylene graft.

The procedure involved valve-sparing root replacement employing a 26 mm corrugated Dacron graft (later trimmed to 23 mm) (Figure 2). Post-reimplantation TEE demonstrated significant regurgitation, requiring CPB reinstitution. Surgical inspection identified a torn right coronary leaflet, ultimately requiring replacement with a 19 mm mechanical prosthesis.

Figure 2.

( a ) Post-operative CT angiography reveals a patent graft, with the narrowest diameter (10 mm) located at the distal anastomosis. ( b ) Around the descending aorta, there were multiple collateral branches, and the graft located in the aortic arch distal to the left subclavian artery.

Due to the prolonged time of extracorporeal circulation, haemostasis was difficult, and bleeding was controlled with three gauze pads that were removed after 48 hours. Post-procedural recovery was uneventful with a good haemodynamic response. The patient presented with atelectasis that resolved after 7 days. Tracheostomy was not required. Likewise, the patient presented dysphagia in the control before discharge; a laryngoscopy was performed, which showed evidence of a left recurrent laryngeal nerve palsy. At 6-month follow-up, the patient reported marked clinical improvement: dysphagia resolved to occasional solid-food difficulty (Grade 2 on the FOIS scale), dyspnoea decreased by ≥1 NYHA class, and blood pressure remained controlled on single-agent amlodipine. Cardiac rehabilitation was completed uneventfully, enabling full return to employment.