Introduction
WBS is a congenital disorder that affects the vascular connective tissue. It presents in 1 in 8000-10,000 live births. 1,2 It is a multisystem developmental disorder caused by a microdeletion of 7q11.23 at chromosome 7.
The diagnosis of WBS is first done by clinical characteristics. The diagnosis is confirmed by fluorescence in situ hybridization (FISH). Cardiovascular abnormalities in these patients (80%) are confirmed using echocardiography; however, to complement the study it requires an angiography, MRI and/or cardiac catheterization and, in patients with pulmonary artery stenosis, pulmonary gammagram to assess perfusion.
The supravalvular aortic stenosis (SAS) is the most frequent finding (56%). 1,3-6 WS patients with cardiac lesions are at risk for infective endocarditis, but uncommon in supravalvular aortic stenosis site.
Case presentation
Five-year-old male patient with WBS. Fluorescence in situ hybridization (FISH) confirmed deletion of 7q11.23 in chromosome 7, and the patient was sent to us for a complete cardiac evaluation.
The patient had "elfin facies", and murmur in the aortic focus grade III and in his neck arteries.
The initial echocardiogram reveled supravalvular aortic stenosis (with gradient of 71 mmHg).
The cardiac catheterization demonstrated right branch pulmonary artery stenosis (with a gradient of 11 mmHg), brachiocephalic artery stenosis, and right renal absence.
Fifteen days after the patient's cardiac catheterization, he presented a high fever and right side right hemiparesis.
We performed a trans-thoracic echocardiogram, which revealed numerous mobile vegetations localized at the ascendant aortic arch and the supra-aortic arteries (Fig. 1). Blood cultures were positive for Streptococcus parasanguis. Antibiotic treatment was initiated with ceftriaxone for 52 days and dicloxacillin for 21 days.
![](/img/revistas/acm/v85n4//1405-9940-acm-85-04-00292-gf1.jpg)
Figure 1: Observed in bi-dimensional echocardiography, suprasternal window numerous vegetations located in aortic root and supra-aortic arteries.
A cerebral angio-resonance was performed which demonstrated a peripheral aneurysm rupture in the middle cerebral artery, with a left parenchymal hematoma and a subarchnoid hemorrhage.
The neurosurgeons performed two surgeries one month after his antibiotic therapy. In the first procedure they repaired the left fusiform aneurysm in the front temporal area. The second procedure was to repair the second right side aneurysm.
A third surgical procedure was performed on the patient in order to excise the vegetations. Repair of the ascending and aortic arch achieved with a bifurcated patch plasty (Doty repair) was used with untreated autologous pericardium.
Following the three surgical procedures the postoperative evolution of the patient was good (Fig. 2), and with no neurological complications after one year of follow up.
Discussion
The follow jet across the SAS seemed to cause a predisposition to severe endocarditis. 7 The SAS is not a predisposing factor for endocarditis progression, but this lesion can influence infective endocarditis, after endothelium lesion like hemodynamic study in children with WS and vegetation growth.
Spontaneous progression and regression of SAS and PABS were detected.
Patients with WBS have a higher risk of having a ruptured aneurysm or of having a recurrence of stenosis given the characteristics of the overgrowth of smooth muscle. Our patient presented a cerebral aneurysm and infective cerebral hematoma.
Only two last reports had infective endocarditis in SAS, one of them after percutaneous balloon valvuloplasty for aortic stenosis 7 years after and other one after dental work-up. 7,8
Prevention is priority; this is why, it is our opinion that antibiotic prophylaxis should be given to patients with WBS, with cardiac lesion, prior to any invasive procedures which may cause bacteremia. Congenital abnormalities in those associated with high velocity jets can result in endothelial damage in aortic sinutubular leading to platelet and fibrin deposition and the formation of nonbacterial thrombotic endocardial lesions. In the presence of bacteremia, organisms may adhere to these lesions, leading to an infective vegetation. 9 In our patient's case, we believe that the etiology may have been the cardiac catheterization performed 15 days prior to the presentations of the infective endocarditis.
In a review of 101 cases of children with supravalvular aortic stenosis, none had endocarditis after catheterization, so in our experience, this case is unusual.10
The antibiotic management of this patient was successful because 10 days after starting treatment, the fever subsided. This allowed us to perform the two surgeries in the brain and one in the arteries. The evolution in both cardiac and neurological procedures has been uneventful.
It is the first case of a child with WBS presenting endocarditis at a supravalvular aortic stenosis level and with the presence of cerebral aneurysms.
Data privacy
The authors declare that patient data does not appear in this article.
Funding
No endorsement of any kind received to conduct this study/article.
Conflict of interest
The authors declare no conflict of interest.