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.