Severe Supravalvular Aortic Stenosis Treated With Double Patch Aortoplasty: A Case Report

ABSTRACT

Severe supravalvular aortic stenosis in a young patient is a rare but critical condition requiring timely diagnosis and intervention. We report a 15‐year‐old girl presenting with exertional dyspnea, chest pain, and palpitations. Echocardiography and multidetector computed tomography (MDCT) confirmed severe supravalvular aortic stenosis, myxomatous mitral valve with moderate to severe mitral regurgitation, and reduced ejection fraction. A double patch aortoplasty was performed with a successful outcome. This case underscores the importance of early diagnosis and tailored surgical intervention along with continued monitoring during follow up visits in managing complex congenital heart disease (CHD) diagnosed at an early age.

Key Clinical Message

SVAS is uncommon and clinically significant. Double patch aortoplasty with bovine pericardium produced sustained functional improvement over 2 years as in this case. Continued echocardiographic surveillance is essential to detect restenosis. Genetic testing for elastin mutations is recommended in non Williams Beuren cases to inform family screening and management.

1. Introduction

Supravalvular aortic stenosis was described for the first time in 1930 by an Italian pathologist and has an incidence of 1:20,000 live births [1]. It is the least common form of left ventricular outflow tract obstructions (LVOTOs), which include subvalvular, valvular, and supravalvular variations, comprising approximately 2% of all cases. Primarily, it entails a distinct constriction of the aortic passage at the sinotubular junction (STJ) [2]. SVAS is often associated with Williams‐Beuren syndrome, though cases may also occur sporadically or within families. In conditions not associated with Williams‐Beuren, it is advised to undergo genetic testing for elastin and initiate cascade screening within the family as it exhibits a notable genetic influence involving the elastin gene (7q11.2) [3]. The severity of SVAS can vary widely—some patients remain asymptomatic throughout their lives, while others may experience life‐threatening complications in infancy. Although the clinical presentation is diverse and the severity varies, surgical intervention is often necessary. Without treatment, aortic stenosis can lead to symptoms such as dyspnea, chest pain, and heart failure [4]. We present the case of a 15‐year‐old girl with SVAS who underwent double patch aortoplasty with bovine pericardium and remained symptomatically improved over a 2‐year follow‐up.

2. Case Report

A 15‐year‐old girl presented to our center complaining of shortness of breath during exertion (New York Heart Association class II), chest pain, and palpitations for the past 5 years, which worsened over the last 3 days. Upon physical examination, her blood pressure was 104/87 mmHg, and her heart rate was 112 beats per minute. Auscultation revealed a grade 3/6 systolic ejection murmur at the right upper sternal border, radiating to both carotid arteries, while the rest of the physical examinations were unremarkable.

3. Methods

A transthoracic echocardiogram revealed moderate supravalvular aortic stenosis (peak gradient (PG) = 57.0 mmHg, mean gradient (MG) = 35.0 mmHg), myxomatous mitral valve with moderate to severe mitral regurgitation (MR), severe left ventricular systolic dysfunction (LVSD), and left ventricular ejection fraction (LVEF) = 25.0%. Further evaluation with Multidetector Computed Tomography (MDCT) thoracic and abdominal angiogram confirmed marked supravalvular aortic stenosis (Figure 1).

FIGURE 1.

An angiogram demonstrated marked supra‐valvular aortic stenosis.

The patient was diagnosed with severe supravalvular aortic stenosis, myxomatous mitral valve with moderate to severe MR, and reduced EF (25.0%). Patient was planned for double patch aortoplasty. Standard median sternotomy was performed, Aorto‐aortic and bicaval cannulation done, Cardio‐pulmonary bypass (CPB) established and Aorta transected at the level of SVAS. Intra‐operative findings showed thickened aortic valve (2 mm), supravalvular aortic stenosis with an inner diameter of about 4 mm, and a small left coronary sinus. A double‐patch aortoplasty was performed with bovine pericardium to correct the SVAS. Total CPB Time was 145 min and Aortic clamp time was 99 min. Intraoperative transesophageal echocardiography (TEE) showed no gradient. The patient was shifted to Pediatric Surgical Intensive Care Unit and was kept under observation. On the 5th Postoperative day, Transthoracic echocardiography was performed with the findings of PG of 7.0 mmHg, MG of 3.0 mmHg, Mild to Moderate MR, Moderate LVSD, and LVEF of 35.0%. The patient was discharged after her condition stabilized.

4. Results

At her 1‐year follow‐up, she demonstrated satisfactory clinical improvement, with a TTE revealing a peak gradient (PG) of 12.0 mmHg across the aortic valve, mild mitral regurgitation (MR), normal pulmonary arterial (PA) pressure, and a left ventricular ejection fraction (LVEF) of 60%. At the 2‐year follow‐up, she continued to feel better, with TTE findings showing a PG of 10.0 mmHg and a mean gradient (MG) of 5.0 mmHg across the aortic valve, mild MR, mild tricuspid regurgitation (TR), and normal PA pressure. At her most recent follow‐up visit, the patient showed ongoing improvement in her cardiovascular status, as indicated by her echocardiogram report, and expressed satisfaction with her treatment.

5. Discussion

SVAS, a rare congenital heart defect, has an estimated incidence of 1 in 20,000 live births [3]. It is characterized by arterial wall thickening in the media or intima layers, unrelated to atherosclerosis, resulting in the narrowing of the lumen of the ascending aorta or other arteries. SVAS predominantly affects branches of the pulmonary and coronary arteries while commonly sparing cerebral circulation, the descending aorta, renal arteries, and other aortic tributaries [5]. While it's often associated with WBS syndrome with an estimated prevalence of ≈69%, isolated cases can occur where the condition isn't severe [6] However, our patient presents with only a severe form of SVAS without any other syndromic features.

Surgical intervention is often necessary for most of the SVAS patients. Adults typically require it due to aortic valve issues, while juveniles need it because of the progressive nature of their stenosis. However, operative management may vary case by case [3, 7]. Aortic root correction procedures typically fall into three primary categories: the single‐patch repair (McGoon repair), the two‐patch repair (Doty repair), and the three‐patch repair (Brom repair) [8]. The decision to perform double patch aortoplasty in our case was based on the ideal characteristics of the patient, severity of the stenosis, and the anatomical findings with a goal of complete repair of the obstruction while restoring root anatomy. Intraoperative findings confirmed severe narrowing with an inner diameter of about 4 mm and a thickened aortic valve, necessitating this reconstructive approach. This technique is favored for effectively widening the STJ in severe obstructions, achieving relatively symmetrical reconstruction of the aortic root while preserving aortic valve function and simplifying the operation, thus decreasing the aortic cross‐clamp time [9]. The bovine pericardium patch was used to ensure durability and minimize the risk of restenosis.

The patient's immediate postoperative course was marked by significant hemodynamic improvement, with echocardiography showing a marked reduction in the pressure gradient and improved LVEF to 35%. Long‐term follow‐up over 2 years demonstrated sustained improvement in cardiac function, with LVEF reaching 60% and symptom resolution. These outcomes underscore the importance of regular follow‐up and echocardiographic surveillance to monitor for potential complications or recurrence.

Potential complications of SVAS surgery include restenosis, arrhythmias, and progressive valve dysfunction. After surgical repair for SVAS, the 30‐year survival rate is lower than that of the matched general population (a relative life expectancy of 90.7%), and there is a considerable lifetime risk of reintervention (2.0%/year) [10]. However, in our case, the patient has shown consistent symptomatic improvement over a 2‐year period, with no signs of stenosis or other complications based on history, physical examination, and related investigations. Therefore, lifelong monitoring of the cardiovascular system, particularly for residual stenosis and coronary obstruction, is recommended. Continuous monitoring and a multidisciplinary approach are essential for managing such complex congenital heart conditions.

The literature advises genetic testing for the elastin gene and initiating cascade screening within the family in cases of SVAS not associated with Williams‐Beuren Syndrome (WBS), due to the notable genetic influence involving the elastin gene (7q11.2) [11] Although our case did not demonstrate any syndrome associated with WBS, genetic testing as recommended by the literature could not be performed due to testing limitations at our center. We strongly recommend conducting such testing wherever it is available.

The ideal surgical technique for each patient should be tailored to their unique characteristics and SVAS anatomy, with the goal of completely repairing the obstruction and restoring the root anatomy. In this case, we chose double patch aortoplasty, which effectively alleviated the stenosis, improved cardiac function, and provided symptomatic relief. This technique can potentially be beneficial for similar cases. Future studies with longer follow‐up durations on recently developed surgical techniques are needed to provide further insights. This case underscores the importance of early diagnosis and tailored surgical intervention along with continued monitoring during follow up visits in managing complex congenital heart conditions diagnosed in early age.

Author Contributions

Birat Kadel: conceptualization, funding acquisition, methodology, project administration, resources, validation, visualization, writing – original draft. Ashok Paudel: conceptualization, funding acquisition, investigation, software, supervision, validation, writing – original draft. Parbej Allam: data curation, formal analysis, investigation, methodology, validation, visualization, writing – review and editing. Sumin Thapa: formal analysis, resources, software, writing – review and editing. Sujan Dhital: formal analysis, project administration, resources, supervision.

Funding

The authors have nothing to report.

Consent

Written informed consent was obtained from the patient for the publication of this case report and any accompanying images. A copy of the written consent from the patient for publication is available for review by the Editor‐in‐Chief of this journal on request.

Conflicts of Interest

The authors declare no conflicts of interest.

Kadel B., Paudel A., Allam P., Thapa S., and Dhital S., “Severe Supravalvular Aortic Stenosis Treated With Double Patch Aortoplasty: A Case Report,” Clinical Case Reports 14, no. 2 (2026): e71916, 10.1002/ccr3.71916.

Data Availability Statement

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.