Case Report
A 26-year-old young man, who was referred to us with complaints of increasing shortness of breath, fatigue, swollen legs and low blood pressure in the last 1 month, also had a history of intermittent fever attacks and irregular antibiotic use. He was referred to cardiology department by the nefrologist who was following him up for his chronic kidney disease, because of coagulase negative staphylococcus growth in the blood culture.
The patient was diagnosed with Alagille syndrome when he was 1 month old and he had been on a hemodialysis program for the last 5 years after developing end-stage chronic kidney disease. In 2016, transthoracic echocardiography demonstrated elevated pulmonary artery pressure, and right heart catheterization was planned and pulmonary artery pressure was measured as 67 mmHg and pulmonary vascular resistance as 27.9 Wood units. The patient was diagnosed with group 1 pulmonary hypertension and endothelin receptor antagonist monotherapy was started. Two years after the diagnosis of pulmonary hypertension, due to deterioration in functional capacity (FC 4), triple combination therapy consisting of IV epoprostenol + phosphodiesterase 5 inhibitor + endothelin receptor antagonist was started and a subclavian catheter was inserted for continuous infusion of IV epoprostenol. With this treatment strategy, improvement in the functional capacity of the patient was observed.
The patient was admitted to cardiology ward also due to complex underlying syndrome. On admission his temperature was 36.4°C, heart rate was 90 beats/minute, blood pressure was 80/30 mmHg and respiratory rate was 21 / minute. Oxygen saturation in room air was 98%.
He was rhytmic , and had normal first and second heart sounds with a 3/6 Levine systolic murmur in the aortic focus. His lungs were clear with decreased sounds at the basis bilaterally. Bilateral pretibial edema was remarkable(++/++). Peripheral examination findings related to infective endocarditis were not observed.On inspection, the classic findings of Alagille syndrome such as wide forehead, hypertelorism, ’basic’ nose and pointed chin were clearly observed.
Laboratory tests showed normal WBC levels , low platelet count, anemia, elevated CRP, procalcitonin, NT-proBNP and creatine levels. Complete laboratory findings are given in Table 1.
Electrocardiogram (ECG) demonstrated sinus tachycardia and signs of left ventricular overload.
Transthoracic echocardiography(TTE) revealed dilatation of all heart chambers, severe global left ventricular hypokinesia with a left ventricular ejection fraction of 35%, severe tricuspid regurgitation with a high estimated pulmonary artery systolic pressure (71+10 mmHg)(Supplementary video 1, Figure 1). TAPSE was measured to be17 mm. Very eccentric aortic regurgitation was observed, which was not seen on previous echocardiograms, but the degree of the regurgitation could not be evaluated clearly due to the poor acoustic window. (Supplementary video 2). An amorphous, mobile mass measuring 12x6 mm was observed on the ventricular face of aortic valve (Supplementary Video 3-4).
Cardiac MRI was performed for quantification of aortic regurgitation. It confirmed severe, global left ventricular hypokinesia with an LVEF of 28%, increased indexed left ventricular volumes, biatrial dilatation, Sievert type 1 bicuspid aortic valve (Figure 2) and eccentric severe aortic regurgitation with a regurgitant fraction of 50%, mild mitral regurgitation and severe tricuspid regurgitation.
Considering Duke criteria, the patient was diagnosed with infective endocarditis. The patient was consulted to infectious diseases for the appropriate antibiotic therapy. As the vegetation was causing severe aortic regurgitation and decompansated heart failure, cardiovascular surgeons assessed the patient too.
After the multidisciplinary evaluation of the patient, emergent aortic valve replacement was the recommended treatment.However, as the operative mortality risk was very high(EuroSCORE II over 40%), the patient and his family refused surgery. He was discharged from the hospital because of their own request. The patient, who continued to receive vancomycin treatment on dialysis days, experienced sudden cardiac death at 4 months after discharge.