38-year-old male in NYHA functional class II/IV.

History, current illness and physical examination
History: Stage V chronic renal failure (CRF) due to left renal dysplasia and renal cysts, on haemodialysis for two years. Hyperparathyroidism secondary to CKD, renoureteral carcinoma operated on eight years ago. Hepatic cholestasis, stenosis of main pulmonary arteries, arterial hypertension, dyslipidaemia, active smoking.
Daughter underwent liver transplant at the age of seven. Admitted a year ago for an episode of acute pulmonary oedema triggered by volume overload.

Clinical history: In the haemodialysis session she began with intense dizziness, sweating and dyspnoea; the previous day she had already reported paroxysmal nocturnal dyspnoea. Physical examination revealed poor general condition with a BP of 75/48, cardiac and pulmonary auscultation revealed the presence of a 4/6 systolic murmur in the aortic focus radiating to the left sternal border and carotid arteries with abolished 2nd sound and crackles up to midfield. An ECG was performed which showed ST-segment elevation in the lower lateral face and ST-segment elevation from V2 to V3. Blood tests showed Hb of 7.0 g/dl. Serum therapy was started, with transfusion of two red blood cell concentrates, which corrected the electrocardiographic alterations; after fluid replacement, acute pulmonary oedema began and the patient was admitted to the ICU.

Complementary tests
- Electrocardiogram: Sinus rhythm at 70 bpm, Axis 80o, LVH criteria, negative T waves in III, poor growth of r from V1 to V3, PR of 200 ms, asymmetric negative T waves in III and V5-V6.
- CBC: Glucose 106, urea 38, Cr 3.1. K 3.2, Na 138, Hb 9.6. MCV 89, CPK 47, CK-MB 2.7, TpI 0.22.
- Chest X-ray: cardiothoracic index 0.55, with parahilar alveolar infiltrates.
- Transthoracic echocardiogram: LV with moderate concentric hypertrophy with normal LVEF. Calcium in the mitral annulus. Bicuspid aortic valve with severe stenosis: peak gradient 76 mmHg and mean 46-50 mmHg, area per continuity of 0.56 cm2/m2 and mild insufficiency. Normal right chambers with normofunctioning RV. Normal pulmonary valve with somewhat thinned main branches.
- Cardiac MRI: Proximal stenosis of both main branches of the pulmonary artery, right pulmonary artery with a calibre of 9x8 mm proximally and 11x13 mm distally and left pulmonary artery with a calibre of 9x10 mm proximally and 8x7 mm distally. Right ventricle not dilated, systolic function preserved. RVEF: 61.9%; RVOT: 136.4 ml; STV: 52 ml (performed one year prior to admission). - Coronary angiography: Coronary arteries angiographically without lesions. Severe aortic stenosis. - Chest CT angiography: Proximal stenosis of both pulmonary arteries: right pulmonary artery diameter 9 mm and left pulmonary artery diameter 10 mm, cardiomegaly at the expense of the left cavities (performed during admission).

Clinical evolution
The patient was admitted to the Intensive Care Unit with acute pulmonary oedema, which improved after non-invasive mechanical ventilation and haemofiltration. An emergency transthoracic echocardiogram was performed which showed severe aortic stenosis in a calcified bicuspid aortic valve with reduced mobility. During admission, a chest CT angiography was performed to assess pulmonary artery stenosis, which had no severity criteria.
Once the patient was stabilised, coronary angiography was performed (described above) with a view to replacing the aortic valve. Finally, the patient underwent surgery with implantation of a Magna Ease size 23 biological aortic prosthesis, the postoperative period passed without complications. The echocardiogram prior to discharge showed that the prosthesis was functioning normally.

Diagnosis
- Severe aortic stenosis in bicuspid valve
- Alagille syndrome
