Supravalvular Pulmonary Stenosis Research Articles

Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.

Supravalvular aortic stenosis (SVAS) has been well described in Williams-Beuren Syndrome and non-syndromic elastin (ELN) mutations. Non-syndromic ELN mutations are inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity. ELN haploinsufficiency leads to progressive arteriopathy, typically affecting the aortic sinotubular junction. Multi-level pulmonary stenosis has also been reported and biventricular obstruction may portend a worse prognosis. Fetal presentation of ELN mutation with SVAS has not been previously reported in the literature. We present a case of fetal diagnosis of SVAS and multi-level pulmonary stenosis in a family with a known pathogenic ELN mutation (Exon 6, c.278del [p.Pro93Leufs*29]). On the fetus' initial fetal echo, there was only mild flow acceleration through the aortic outflow tract, however, she went on to develop progressive bilateral obstruction. In the early post-natal period, the child was clinically asymptomatic and showed similar mild SVAS and mild valvar and supravalvular pulmonary stenosis. Our case highlights the need for serial monitoring of fetuses with suspected or confirmed ELN arteriopathy.

Williams Syndrome: A Rare Case Report

We report a rare case of Williams Syndrome diagnosed at an age of two months based on subtle facial dysmorphism (elfin facies) and a pulmonary systolic murmur at birth. Echocardiogram revealed mild supravalvular aortic stenosis and mild supravalvular pulmonary stenosis extending into branch pulmonary arteries. Mild developmental delay, hypotonia, feeding problems, constipation and failure to thrive were present. In view of distinctive facial phenotype in combination with cardiac abnormalities, Williams Syndrome was strongly suspected. It was confirmed by fluorescence in situ hybridisation test demonstrating a deletion of elastin gene on chromosome 7. This case highlights the importance of pediatricians awareness about malformation syndromes which can help in early diagnosis, timely genetic counselling to the family and better patient outcomes.

PA24 Abnormal interferon signature in a patient with chilblain lupus

Abstract A 5-year-old girl of Sri Lankan ancestry with no history of parental relatedness presented with the clinical features of chilblain lupus. This was particularly florid over her dorsal fingers, toes and the soles of her feet with areas in keeping with panniculitis on her calves and an epidermal naevus on the right side of her trunk. There was no ulceration or necrosis. Her parent reported occasional fevers and palpable lymph nodes in her neck. She also has bilateral astigmatism and mild valvular and supravalvular pulmonary stenosis. Blood tests showed a persisting mild transaminitis, an antinuclear antibody of 1 in 160 and a negative double-stranded DNA. She had a skin biopsy that showed supporting features for chilblain lupus. A lymph node biopsy showed nonspecific changes. The clinical suspicion was of a mild form of Aicardi–Goutières syndrome (AGS), and a genetic panel was performed that included TREX1, RNASEH2B, TMEM173 and SAMHD1 (all negative). The common mechanism behind these conditions is a type I interferonopathy. We sent blood on a research basis for RNA extraction and testing of her interferon (IFN) gene signature (IGS), which came back as abnormal (11.895; cutoff score of 2.758); she had normal expression of neutrophil-associated genes. This IFN score is on par with patients who have confirmed AGS or STING-associated vasculopathy with onset in infancy. An IGS is derived from the expression of IFN-regulated genes. A raised IGS has not only been reported to be useful as a biomarker in many rheumatic diseases, but is also used to help identify type I interferonopathies where genetic testing has not identified any clear pathogenic mutations (Crow YJ, Stetson DB. The type I interferonopathies: 10 years on. Nat Rev Immunol 2022; 22:471–83). National Institute for Health and Care Excellence guidelines allow for treatment of interferonopathies with baricitinib in patients with two documented high IFN gene signatures, which is our current plan for this patient.

Hibridização in situ fluorescente (FISH) como ferramenta diagnóstica insubstituível para a síndrome de Williams-Beuren em países em desenvolvimento: uma revisão de literatura

ABSTRACT Objective: The aim of this study was to sum up and characterize all Williams-Beuren syndrome cases diagnosed by fluorescence in situ hybridization (FISH) since its implementation, as well as to discuss FISH as a cost-effective methodology in developing countries. Data source: From January 1986 to January 2022, articles were selected using the databases in PubMed (Medline) and SciELO. The following terms were used: Williams syndrome and In Situ Hybridization, Fluorescence. Inclusion criteria included Williams-Beuren syndrome cases diagnosed by FISH with a stratified phenotype of each patient. Only studies written in English, Spanish, and Portuguese were included. Studies with overlapping syndromes or genetic conditions were excluded. Data synthesis After screening, 64 articles were included. A total of 205 individuals with Williams-Beuren syndrome diagnosed by FISH were included and further analyzed. Cardiovascular malformations were the most frequent finding (85.4%). Supravalvular aortic stenosis (62.4%) and pulmonary stenosis (30.7%) were the main cardiac alterations described. Conclusions: Our literature review reinforces that cardiac features may be the key to early diagnosis in Williams-Beuren syndrome patients. In addition, FISH may be the best diagnostic tool for developing nations that have limited access to new technologic resources.

Comprehensive outcomes after primary arterial switch operation.

To report the long-term outcomes of the arterial switch operation for transposition of the great arteries. The data of 35 patients who underwent an arterial switch operation between April 2006 and May 2021 were retrospectively examined; five had double-outlet right ventricles, three had side-by-side transposition, and 27 had d-transposition. The punch-out technique was the basic method for coronary transplantation; however, if coronary artery kinking after additional peeling was a concern, the trap-door technique was used. In aortic reconstruction, the caliber difference between the neoascending aorta and the native pulmonary artery was fixed using the pulmonary artery flap. In pulmonary reconstruction, the pulmonary artery was bilaterally exposed over the second branch. The median age at operation and follow-up duration were 10.0 (8.0-12.5) days and 72.9 (40.7-139.5) months, respectively. Thirty-four patients survived, and one was lost to follow-up ([coronary transplantation]: right coronary artery, punch-out = 31, trap-door = 2; left coronary artery, punch-out = 28, trap-door = 7; [aortic regurgitation]: no-slight = 27, mild = 6, moderate = 1; [pulmonary regurgitation]: no-slight = 22, mild = 11, moderate = 1). Slight coronary bending occurred in two patients; ischemia was not observed. Catheter stent placement was performed in one of three patients with stenosis at the pulmonary artery bifurcation. Catheter balloon dilation was performed in one patient with supravalvular pulmonary stenosis. There were no cases of coronary, aortic, or pulmonary artery reoperations. The 15-year cumulative reintervention avoidance rate was 91.0%. There were no deaths or reoperations during the long-term follow-up period, and arterial switch operation outcomes at our hospital were satisfactory.

Phylogenetic analysis of congenital rubella virus from Indonesia: a case report

BackgroundRubella is a common inherited infection resulting in congenital cataracts and a significant cause of permanent vision loss in developing countries. In 2016, Indonesia had the highest number of congenital rubella syndrome (CRS) cases globally. Here, we report the first genotype of the rubella virus extracted from the eye lens from a child with congenital cataracts due to CRS.Case presentationA female neonate was delivered by an elective caesarean delivery with normal birth weight at term from a 24-year-old mother in the rural setting. The baby presented with bilateral congenital cataracts, small-moderate secundum atrial septal defect, severe supravalvular pulmonary stenosis, and profound bilateral hearing loss. She also had microcephaly and splenomegaly. The patient's serology showed persistent positive IgG for rubella virus at the age of four years and four months. Following extraction during cataract surgery, viral detection of the lenses identified the presence of rubella. Phylogenetic analysis confirmed that the virus was grouped into genotype 1E.ConclusionsOur study reports the first phylogenetic analysis of the rubella virus extracted from the eye lens of a child with CRS in Indonesia. The detection of the rubella virus from eye lenses is remarkably promising. Our findings also emphasize the importance of molecular epidemiology in tracking the origin of rubella infection toward achieving virus eradication.

Supravalvular pulmonary stenosis: A risk factor for reintervention in Noonan syndrome with pulmonary valve stenosis.

To assess the short- and long-term outcomes of balloon pulmonary valvuloplasty (BPV) in children with Noonan syndrome (NS). Pulmonary stenosis (PS) is the most common congenital heart lesion in NS. BPV is the accepted first line treatment in PS. However, BPV in NS patients has been reported to be less effective, without specific factors for the need for reintervention being identified. Retrospective case-note review of all patients with NS who underwent BPV between 1985 and 2020. Patients were divided into 2 groups: those with supravalvular pulmonary stenosis (SPS) in addition to valvar PS, and those with isolated valvar PS. A cohort of 54 patients with NS underwent BPV at a median of 275 (interquartile range [IQR]: 108-575) days of age. SPS was present in 32 (59%) patients whereas 22 had (41) isolated PS. The preprocedural invasive gradient was 47 (IQR: 35-69) mmHg, and 44 (IQR: 35-48) mmHg in those with SPS and those without respectively (p = 0.88). Reintervention was required in 22 patients (41%): 17 (77%) with SPS and 5 (23%) without (p = 0.017). Fourteen patients (11 with SPS) required surgical reintervention and 8 (6 with SPS) required further BPV. There was no significant difference in the age at initial BPV, pre- and postprocedural gradients and interval until reintervention between groups. This is the largest reported cohort of patients with NS undergoing BPV. Although BPV is often successful, the reintervention rates are high. SPS was a risk factor for reintervention.

A Novel Surgical Technique to Repair Supra Valvular Pulmonary Stenosis After Arterial Switch Operation for TGA

A Novel Surgical Technique to Repair Supra Valvular Pulmonary Stenosis After Arterial Switch Operation for TGA

A rare case of williams–Beuren syndrome with presence of fibrocalcific supravalvular aortic stenosis and supravalvular pulmonary stenosis: Genetic disorder that bites the gene and bites the heart

A rare case of williams–Beuren syndrome with presence of fibrocalcific supravalvular aortic stenosis and supravalvular pulmonary stenosis: Genetic disorder that bites the gene and bites the heart

Simplified art of balloon pulmonary valvuloplasty: Does the presence of mild supravalvular pulmonary stenosis preclude successful balloon pulmonary valvuloplasty?

We present a case of successful balloon pulmonary valvuloplasty (BPV) in a 37-year-old female with severe valvular pulmonary stenosis with peak gradient of 82 mmHg with history of exertional presyncope. The crux of our case was that patient also had associated mild supravalvular pulmonary stenosis which did not preclude a successful BPV outcome. The patient had rare Bombay negative blood group, and the requisite units were not available across all the blood banks in the state to subject the patient for surgical correction. Although the art of BPV is dying among budding young interventionists, this simple procedure is as good as surgical pulmonary valvotomy so far as the immediate and late outcome is concerned and the presence of mild supravalvular pulmonary stenosis does not preclude a successful outcome. Our case is a unique illustration of feasibility of successful balloon pulmonary valvuloplasty in the presence of associated mild supravalvular stenosis.

Mature teratoma of the anterior mediastinum revealed by supravalvular pulmonary stenosis: a case report

The mature teratoma of the mediastinum is a benign tumour made up of several adult-type tissue components which result from the abnormal development of two or three embryonic layers (ectoderm, endoderm or mesoderm). We report the case of a 31-year-old patient, admitted for management of a mediastinal tumour, revealed by a pulmonary supravalvular stenosis, symptomatic of exertional dyspnea and mid-thoracic pain. The clinical examination objectified a respiratory rate at 18 c/min and an oxygen saturation at 96% in ambient air. The chest X-ray showed a mediastinal enlargement with a left paracardiac opacity, while the echocardiac showed a supravalvular pulmonary stenosis, hence the realization of a thoracic computed tomography (CT), which objectified a voluminous anterior mediastinal cystic formation and superior lateralized on the left, with an effect of compression on the trunk of the pulmonary artery. The median sternotomy allowed the complete exeresis of this tumor and the postoperative course was simple. The mature teratoma of the anterior mediastinum should be suspected in view of these clinical and radiological signs in a young patient. Surgery with a complete resection remains the treatment of choice.

Congenital heart disease associated with the most prevalent chromosomal syndromes: a literature review

Most frequent chromosomal syndromes like Down, Patau, Edwards, Turner, and Williams affect the pediatric population in various ways, and congenital heart disease explains the altered quality of life they suffer. There is a lack of studies reviewing the cardiac anomalies in these syndromes, and the ones that exist are publications from past decades. We reviewed databases such as MEDLINE, LILACS, SCIELO, and Google Scholar, selecting the best possible evidence, and each chromosomal syndrome was investigated in relation to congenital heart disease, constituting five search groups. The article shows the characteristics of each heart disease described in the studies reviewed, the author, date of publication, country, and population studied, as well as a brief description of the frequency of the disease and its mortality. The results described in this review were contrasted with previous existing literature to verify if there was correspondence between the reported frequencies. The most frequent congenital heart diseases were atrioventricular septal defect (AVSD), ventricular septal defect (VSD), atrial septal defect (ASD), and persistent ductus arteriosus (PDA) in Down syndrome patients, PDA, ASD, and VSD in Patau syndrome patients, AVSD, PDA and valvular defects in Edwards syndrome, bicuspid aortic valve, aortic coarctation and aortic stenosis in Turner syndrome, and supravalvular aortic stenosis and pulmonary stenosis in Williams syndrome.

Long-term outcome after the arterial switch operation: 43 years of experience.

OBJECTIVESThe objective of this study was to assess our 43-year experience with arterial switch operation (ASO) for transposition of the great arteries (TGA) by analysing cardiac outcome measures (hospital and late mortality, reoperations and catheter interventions, significant coronary artery obstruction) and to identify risk factors for reoperation and catheter interventions. METHODSA total of 490 patients who underwent ASO for TGA from 1977 to 2020 were included in this retrospective, single-centre study. Data on reoperation and catheter intervention of hospital survivors were estimated by the Kaplan–Meier method and compared using a long-rank test. Risk factors for reoperation and/or catheter intervention were assessed by multivariate Cox regression analysis.RESULTSHospital mortality occurred in 43 patients (8.8%), late death in 12 patients (2.9%) and 43 patients were lost to follow-up. Median follow-up time of 413 hospital survivors was 15.6 (interquartile range 7.0–22.4) years. Reoperations were performed in 83 patients (117 reoperations). Neoaortic valve regurgitation with root dilatation was the second most common indication for reoperation (15/83 patients, 18.1%) after right ventricular outflow tract obstruction (50/83 patients, 60.2%). Risk factors for any reoperation on multivariable analysis were: TGA morphological subtype [TGA with ventricular septal defect: hazard ratio (HR) = 1.99, 95% confidence interval (CI) 1.18–3.36; P = 0.010 and Taussig-Bing: HR = 2.17, 95% CI 1.02–4.64; P = 0.045], aortic arch repair associated with ASO (HR = 3.03, 95% CI 1.62–5.69; P = 0.001) and a non-usual coronary artery anatomy (HR = 2.41, 95% CI 1.45–4.00; P = 0.001). One hundred and one catheter interventions were performed in 54 patients, usually for relief of supravalvular pulmonary stenosis (44/54 patients, 81.5%) or arch obstruction (10/54 patients, 18.5%). Main risk factor for catheter intervention on multivariable analysis was aortic arch repair associated with ASO (HR = 2.95, 95% CI 1.37–6.36; P = 0.006). Significant coronary artery stenosis was relatively uncommon (9/413 patients, 2.2%) but may be underrepresented.CONCLUSIONSPatients after ASO typically have good long-term clinical outcomes but reoperations and interventions remain necessary in some patients. Neoaortic valve regurgitation with root dilatation is the second most common indication for reoperation after right ventricular outflow tract obstruction and an increasing need for neoaortic valve and root redo surgery in future is to be expected.

Three steps approach for preoperative evaluation of tetralogy of Fallot patients: role of 128 MDCT

BackgroundTetralogy of Fallot is the most common congenital cyanotic heart disease. Advances in surgical repair recently facilitate survival of the affected patients into adulthood with good quality of life. Despite imaging plays crucial role in diagnosis of TOF patients, no single diagnostic modality suffices for complete evaluation of TOF. Thus, different diagnostic tools should be used alone or in combination according to patient’s clinical question. This study aims to find out the agreement between the echocardiography and MDCT in evaluation of TOF patients prior to surgical repair.ResultsThree-step approach used in scanning TOF patients. Firstly, classic TOF findings, MDCT was comparable to echocardiography in overriding aorta (k = 0.6), VSD (k = 0.8), RVH (k = 0.4), and sub valvular pulmonary stenosis (k = 0.6). Echocardiography is superior to MDCT in evaluation of valvular stenosis (k = 0.4). MDCT was superior to echocardiography in supravalvular pulmonary stenosis. Secondary, surgical relevant findings, McGoon ratio calculated in 94.2%, small and major APCs in 45.5% and 28.5% respectively, PDA in 35% and anomalous coronary artery in 5.1%. Thirdly, other TOF-associated anomalies, common: ASD (34.3%) and RAA (28.3%), and persistent LSVC (10.3%). Uncommon: situs ambiguous (2.5 %), PAPVR (1.2%), and IVC anomalies (3.8%). MDCT was superior to echocardiography in surgical relevant findings and other TOF-associated anomalies.ConclusionMDCT is a crucial imaging tool for extra cardiac evaluation of TOF patients prior to surgical repair.

Multimodality Imaging of Transposition of the Great Arteries.

Transposition of the great arteries (TGA) is a congenital conotruncal abnormality characterized by discordant connections between the ventricles and great arteries, with the aorta originating from the right ventricle (RV), and the pulmonary artery (PA) originating from the left ventricle (LV). The two main types of TGA are complete transposition or dextro-transposition of the great arteries (D-TGA), commonly referred to as d-loop, and congenitally corrected transposition (CCTGA), commonly referred to as l-loop or L-TGA. In D-TGA, the connections between the ventricles and atria are concordant, whereas in CCTGA they are discordant, with the left atrium connected to the RV, and the right atrium connected to the LV. D-TGA manifests during the neonatal period and can be surgically managed by atrial switch operation (AtrSO), arterial switch operation (ASO), Rastelli procedure, or Nikaidoh procedure. Arrhythmia, systemic ventricular dysfunction, baffle stenosis, and baffle leak are the common complications of AtrSO, whereas supravalvular pulmonary or branch PA stenosis, neoaortic dilatation, and coronary artery narrowing are the common complications of ASO. CCTGA may manifest late in life, even in adulthood. Surgeries for associated lesions such as tricuspid regurgitation, subpulmonic stenosis, and ventricular septal defect may be performed. A double-switch operation that includes both the atrial and arterial switch operations constitutes anatomic correction for CCTGA. Imaging plays an important role in the evaluation of TGA, both before and after surgery, for helping define the anatomy, quantify hemodynamics, and evaluate complications. Transthoracic echocardiography is the first-line imaging modality for presurgical planning in children with TGA. MRI provides comprehensive morphologic and functional information, particularly in adults after surgery. CT is performed when MRI is contraindicated or expected to generate artifacts. The authors review the imaging appearances of TGA, with a focus on pre- and postsurgical imaging. Online supplemental material is available for this article. ©RSNA, 2021.

Supravalvular and Valvular Pulmonary Stenosis: Predictive Features and Responsiveness to Percutaneous Dilation

Supravalvular pulmonary stenosis (SVPS) is considered a rare form of pulmonary stenosis (PS) and represents both a diagnostic and therapeutic challenge. There currently exist no reliable echocardiographic criteria to accurately predict the supravalvular form. The aims of the study were to describe the response to treatment of the different PS presentations and to outline the diagnostic capacity of echocardiogram to differentiate the SVPS from valvular PS (VPS). This retrospective study included 106 patients who underwent percutaneous angioplasty between 2006 and 2017. Interventional outcomes of patients with SVPS were compared to those of patients with VPS. Diagnosis of VPS vs. SVPS by echocardiogram was compared to diagnosis obtained by angiogram. Echocardiogram yielded a sensitivity of 56%, a specificity of 82.5%, a positive predictive value of 50%, and a negative predictive value of 85.7%. Patients with SVPS had a significantly smaller pulmonary artery to pulmonary valve (PA:PV) ratio. At 6-12months of follow-up, the VPS group had a mean right ventricular to pulmonary artery (RV-PA) gradient of 21.68 ± 19.85mmHg compared to 45.27 ± 24.58mmHg in the SVPS group. Patients with SVPS had a higher rate of reintervention than patients with VPS (32% vs. 6.2%, p < 0.001). There was no difference in major complications between groups, whereas VPS patients had a higher proportion of pulmonary insufficiency. Percutaneous angioplasty for PS is less effective in patients with a supravalvular component. A better understanding of the underlying histopathology of different PS subtypes could lead to development of different techniques to improve outcomes, with fewer reinterventions, in this population.

En Block Rotation of the Outflow Tracts: Intermediate Follow-up After 15 Years of Experience

The en bloc rotation of the outflow tracts is a surgical option for anatomic repair of transposition of the great arteries, ventricular septal defect, and left ventricular outflow tract obstruction with preserved growth potential in all tubular structures and the option for keeping the native pulmonary valve. The aim of this study was to analyze our 15-year experience with this operation. A retrospective single-center study including 27 consecutive patients, who underwent the en bloc rotation between 2003 and 2019, was performed. Median age at operation was 103 days (interquartile range [IQR], 17-117 days), and median body weight was 5.2 kg (IQR, 3.66-8.4 kg). Six patients had undergone 1 to 4 previous operations. In 18 patients (66.7%), the pulmonary valve could be preserved, and in 9 patients (33.3%) a transannular patch was performed. Median follow-up was 5.7 years (IQR, 1.6-9.0 years). One patient died of chronic left ventricular failure during the hospital stay. Two more died after discharge: 1 of aspiration after a cerebral hemorrhage and 1 of sudden death. Five other patients required reoperations or had reinterventions: 1 ventricular septal defect closure, 1 aortic valve repair, 1 patch plasty, 2 dilatations of supravalvular pulmonary stenosis, and 1 stent into a left pulmonary artery. During the follow-up period, no gradient in the left ventricular outflow tract was found, and postoperative growth of the pulmonary valve was shown. The en bloc rotation allows an anatomic correction of the complex transposition with growth potential in all tubular structures. Reoperations or reinterventions on the pulmonary valve or on the left ventricular outflow tract have not been necessary to date.

Echocardiographic diagnosis and follow‐up for ALCAPA syndrome treated with the Takeuchi procedure

We present the case of an 18-year-old man with aborted sudden cardiac death. His initial echocardiogram suggested an anomalous origin of the left coronary artery from the pulmonary artery. Diagnosis was confirmed with coronary angiography. He underwent Takeuchi procedure and fully recovered. A two-year follow-up echocardiogram showed a moderate supravalvular pulmonary stenosis related to the transpulmonary baffle. The presence of extensive collateral circulation should raise suspicion of ALCAPA. Postoperative surveillance in this group of patients needs to be oriented in finding complications such as supravalvular pulmonary stenosis, aortic and pulmonary valve insufficiency, and baffle obstruction and leaks.

Supravalvular pulmonary stenosis caused by a membrane in the main pulmonary artery

Supravalvular pulmonary stenosis caused by a membrane in the main pulmonary artery

WILLIAMS SYNDROME AND NEONATAL CARDIAC SURGERY FOR CONGENITAL DOUBLE OUTLET RIGHT VENTRICLE

Williams syndrome (WS) is an arteriopathic derangement most often associated with supravalvular aortic stenosis and branch pulmonary artery stenosis. WS has also been reported in conjunction with several types of congenital heart disease. We report a unique case of double outlet right ventricle with