|Year : 2014 | Volume
| Issue : 2 | Page : 136-138
Infantile presentation and rapid progression of coarctation of aorta in a case of Williams syndrome
Monika Bhandari1, Debabrata Bera1, Deepesh Venkatraman1, Prasenjit Halder2
1 Department of Cardiology, Radha Gobinda Kar Medical College, Kolkata, India
2 Department of Pediatrics, Sagar Dutta Medical College, Kolkata,West Bengal, India
|Date of Web Publication||3-Oct-2014|
Department of Cardiology, Radha Gobinda Kar Medical College, Kolkata - 700 004, West Bengal
Source of Support: None, Conflict of Interest: None
Williams syndrome is a multisystem disorder caused by the deletion of multiple genes on chromosome 7. Many patients are identified through presence of dysmorphic features and associated cardiac abnormalities. Cardiovascular abnormalities in Williams syndrome is characterized by presence of supravalvular aortic stenosis which is most common followed by pulmonary artery stenosis, mitral valve prolapse, aortic hypoplasia, coarctation of aorta, and septal defects. Usually, these obstructive lesions are mild and do not present in infancy and progress slowly. If severe in infantile age-group, they often require surgery. We are reporting a case of Williams syndrome who presented with heart failure demonstrating supravalvular aortic stenosis (a common feature of Williams syndrome) and rapidly progressive coarctation of aorta with refractory symptoms.
Keywords: Coarctation of aorta, supravalvular aortic stenosis, Williams syndrome
|How to cite this article:|
Bhandari M, Bera D, Venkatraman D, Halder P. Infantile presentation and rapid progression of coarctation of aorta in a case of Williams syndrome. Nig J Cardiol 2014;11:136-8
|How to cite this URL:|
Bhandari M, Bera D, Venkatraman D, Halder P. Infantile presentation and rapid progression of coarctation of aorta in a case of Williams syndrome. Nig J Cardiol [serial online] 2014 [cited 2020 Apr 7];11:136-8. Available from: http://www.nigjcardiol.org/text.asp?2014/11/2/136/142121
| Introduction|| |
Williams-Beuren syndrome (WBS) is a complex developmental disorder characterized by congenital heart and vascular disease, mental retardation, a characteristic learning profile, a hypersocial personality, and infantile hypercalcemia. Its prevalence has been estimated to range from 1:13,700-1:25,000 live births.  This syndrome is associated with a microdeletion in chromosome region 7q11.23, encompassing elastin gene. Reports suggest that this microdeletion of elastin gene is responsible for typical vasculopathy of WBS, supravalvular aortic stenosis (SVAS), and pulmonary artery stenosis. ,
Cardiovascular abnormalities occur in approximately 80% of reported cases with SVAS being the most common cardiac anomaly, present in 64% of patients. Other cardiopathies include pulmonary artery stenosis (13%), aortic hypoplasia, coarctation of aorta (COA; 8%), mitral valve prolapse (15%), and septal defects. 
SVAS usually progresses with age, whereas pulmonary artery stenosis decreases with increasing age.
| Case report|| |
Our patient is a 10-month-old child referred by a pediatrician at 6 months of age for heart failure symptoms and developmental delay. The child's mother gave history that the child becomes dyspneic while feeding and is not gaining weight. On clinical examination, the child was acyanotic and had the typical facies of WBS (hypertelorism, saddle nose, thick patulous lips, baggy cheeks, and open mouth) [Figure 1]. The systolic blood pressure reading in right upper limb compared with right lower limb showed a gradient of 40 mmHg with weak pulsations in bilateral femoral arteries compared with upper limbs. In addition there was an ejection systolic murmur heard at base of heart radiating to carotids. Hence a clinical diagnosis of aortic stenosis and COA was suspected. On echocardiography, there was left ventricular hypertrophy, a bilateral peripheral pulmonary artery stenosis, and SVAS with a maximum gradient of 30 mmHg and 32 mmHg, respectively [Figure 2]a and b. It also showed supravalvular narrowing. In suprasternal window turbulence was seen in descending thoracic aorta with a gradient of 45 mmHg confirming the presence of COA.
|Figure 1: Child with elfin facies showing hypertelorism, thick lips, saddle nose, and open mouth|
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|Figure 2: (a) Parasternal short axis (PSAX) view showing a gradient of 30 mmHg in right pulmonary artery and (b) PSAX view showing supravalvular aortic gradient of 32 mmHg|
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Child was prescribed decongestive treatment but the symptoms of heart failure persisted and he was on regular follow-up. Patient's echocardiography was reviewed at 10 months of age. It showed progression of aortic coarctation with increase in gradient to 58mmHg [Figure 3]. SVAS was still present with supravalvular aortic hypoplasia with a gradient of 32mmHg. But there was reduction in severity of pulmonary artery stenosis.
|Figure 3: Suprasternal view showing narrowing and turbulence with a gradient of 58 mmHg in descending thoracic aorta just distal to left subclavian artery|
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Genetic diagnosis of WBS was confirmed using fluorescence in situ hybridization (FISH) showing elastin gene defect. Child also had hypercalcemia. Chest X-ray showed normal cardiac size with no evidence of rib notching.
| Discussion|| |
The WBS, a rare congenital anomaly involving the vascular system, connective tissue, and central nervous system, was initially described by Williams et al., in 1961, and then by Beuren in 1962. 
The distinctive facial appearance of patients with WBS is characterized by hypertelorism, saddle nose, excessive periorbital tissue, thick lips, full open mouth, stellate iris pattern and dental abnormalities. These patients are almost always communicative and sociable. In our case, we observed facial and behavioral
characteristics of this syndrome. Our patient also had hypertelorism, saddle nose, open mouth, thick patulous lips, and baggy cheeks.
The diagnosis of SVAS and other vasculopathies of the WBS syndrome can be made by multiple imaging modalities. The defining feature of this malformation is an aortic narrowing at the level of the sinotubular junction; but in some cases, there is narrowing of the entire abdominal aorta and arch branches. In coarctation of the aorta, characteristic rib notching is often present on chest X-ray or computed tomography (CT) scan and is indicative of extensive arterial collateral formation bypassing the area of coarctation; a characteristic "3" sign is often also seen on chest X-ray. Rib notching is rare in the first 5 years of life. In our patient, rib notching was not seen on chest X-ray.
The vascular abnormalities in WBS must be distinguished from other congenital or acquired arteriopathies such as fibromuscular dysplasia or Takayasu's arteritis, respectively. The results of a previous study by Kim et al., show that with time, pulmonary artery stenosis tends to improve and SVAS tends to progress. , In our patient also, pulmonary artery stenosis showed some resolution but there was a rapid progression of aortic coarctation.
SVAS often presents in childhood, and if not corrected by surgery can lead to heart failure and death.  Although in our patient, SVAS was not severe enough to cause symptoms but the concomitant presence of coarctation and its rapid progression may be responsible for his symptoms. Though coarctation can be present in infancy but it usually progresses slowly. But in our index case, there was a rapid progression of coarctation severity which made the patient persistently symptomatic during infancy. Also presence of multilevel aortic obstruction may have contributed to early presentation. His left ventricular (LV) systolic pressure would be higher than the summation of sequential obstruction [i.e. more than 32 mmHg (SVAS)+58 mmHg (Coarctation) = 90 mmHg]. This persistently very high afterload could have produced early and refractory symptoms. Thus, in view of the patient clinical and echocardiography findings, patient was referred for surgical correction. There is a case report of Williams syndrome with rapid progression of coarctation and severe middle aortic syndrome which required surgery within first 2 months of life. ,
Surgical treatment of supravalvular stenosis is by resection of the obstructed segment. Surgical enlargement of the narrowed sinotubular region and adjacent ascending aorta is recommended if symptoms (angina, dyspnea, syncope) or a mean pressure gradient of >50 mmHg are present.  COA is treated with either percutaneous transluminal angioplasty with or without endovascular stent placement or surgery.
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[Figure 1], [Figure 2], [Figure 3]