Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.

Surgical Outcome of Supra-Valvular Aortic Stenosis: A 50-Year Single-Centre Experience.

Supravalvular aortic stenosis with aneurysmal dilation and infective vegetations of the aortic arch in a pediatric patient with Williams syndrome: a case report and review of the literature.

Development and validation of a prediction model for early major adverse cardiovascular events in children undergoing surgical repair of supravalvular aortic stenosis.

Cryopreserved aortic homograft root replacement for supravalvular root stenosis in familial homozygous hypercholesterolemia.

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

Sphingosine kinase 1 is integral for elastin deficiency-induced arterial hypermuscularization.

Ambulatory General Anesthesia for Dental Treatment in a Patient With Williams Syndrome and Supravalvular Aortic Restenosis: A Case Report.

Xanthelasma, arcus senilis, and supravalvular aortic stenosis.

Subclassification of Phenotypic Homozygous Familial Hypercholesterolemia.

Hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis: a case report of Williams-Beuren syndrome.

Supravalvular aortic stenosis mimicking hypertrophic obstructive cardiomyopathy: a case report.

A Rare Cause of Supravalvular Aortic Stenosis: Aberrant Fibrous Band Formation Connecting the Left Coronary Cusp to the Sinus Wall.

An immigrant Latino child with supravalvular aortic stenosis.

Right-Sided Infectious Endocarditis in the Patient With Williams Syndrome: Importance of Recognizing Disease-Specific Pathophysiology in Adults.

Clinical course and outcomes of supravalvular aortic stenosis in adults.

Supravalvular aortic stenosis caused by compression of a pseudoaneurysm late after aortic root replacement.

Supravalvular aortic stenosis - Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood.

Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.

Association between cardiopulmonary bypass duration and early major adverse cardiovascular events after surgical repair of supravalvular aortic stenosis.

Early severe supravalvular aortic stenosis in 16-day-old neonate.

Supravalvular aortic stenosis repair in a 3-year-old child with Williams syndrome using an interdigitating slide aortoplasty.

Surgical techniques and prognostic nomogram for patients with supravalvular aortic stenosis.

Prognostic Effects of Operation Age for Pediatric Patients with Supravalvar Aortic Stenosis.

A successful surgical repair for supravalvular aortic stenosis with a bicuspid valve and malpositioned coronary orifices by partial Brom's technique: a case report.

Acute Coronary Syndrome in a 9-Year-Old Girl With Homozygous Familial Hypercholesterolemia.

Effectiveness and Safety of Different Patch Materials for Supravalvar Aortic Stenosis (Middle-Term Outcomes).

Management of supravalvular aortic stenosis with the Doty technique, in a South American pediatric center.

Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder.

Advanced Multimodality Cardiovascular Imaging of Supravalvular Aortic Stenosis in Williams-Beuren Syndrome.

Long-Term Outcomes of Individualized Repair in Patients with Supravalvular Aortic Stenosis.

Optimization and evaluation of facial recognition models for Williams-Beuren syndrome.

Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye.

Unravelling supravalvular aortic stenosis in a young patient: look beyond the valve.

De Novo Elastin Assembly Alleviates Development of Supravalvular Aortic Stenosis-Brief Report.

Multimodality imaging for acquired supravalvular aortic stenosis.

Numerical study of hemodynamic flow in the aortic vessel of Williams syndrome patient with congenital heart disease.

Supravalvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: Contemporary Management.

Patch aortoplasty for supravalvular aortic stenosis in an adult patient: A case report.

A 3D scaling law for supravalvular aortic stenosis suited for stethoscopic auscultations.

Coronary artery lesions are associated with adverse cardiac events in children undergoing supravalvular aortic stenosis repair.

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

Myocardial proteome changes in aortic stenosis rats subjected to long-term aerobic exercise.

Upper partial sternal split for pediatric cardiac surgery.

Presenilin-1 in smooth muscle cells facilitates hypermuscularization in elastin aortopathy.

Fatal cardiac dysfunction in a child with Williams syndrome.

Supravalvular aortic stenosis: the long-term story of a mischievous disease.

Blockade of Inflammatory Markers Attenuates Cardiac Remodeling and Fibrosis in Rats with Supravalvular Aortic Stenosis.

Diagnosis of membranous supravalvular aortic stenosis with severe aortic valve insufficiency.

Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report.

Long-term surgical outcomes of congenital supravalvular aortic stenosis: a systematic review, meta-analysis and microsimulation study.

Extensive cardiovascular involvement in a young boy with Gaucher's disease: a case report.

Aortic Dissection and Supravalvular Aortic Stenosis With Williams Syndrome Complicated by Infection.

Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review.

Lethal Fungal Aortitis In Surgically Corrected Supravalvular Aortic Stenosis In A Child With Williams Syndrome.

Characterization of the Zebrafish Elastin a (elnasa12235) Mutant: A New Model of Elastinopathy Leading to Heart Valve Defects.

Clinical Results of a Modified Doty's Technique for Supravalvular Aortic Stenosis.

A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features.

A new mouse model of elastin haploinsufficiency highlights the importance of elastin to vascular development and blood pressure regulation.

Williams-Beuren syndrome with pseudoaneurysm of aortic arch and infective vegetations for modified broms procedure: anesthetic concerns & Echocardiographic illustrations.

Williams-Beuren syndrome associated with hammock mitral valve: First case report.

Role of Transthoracic Echocardiography in Early Diagnosis of Williams Syndrome in the Neonatal Period.

Supravalvular aortic stenosis with bicuspid aortic valve in a patient with cutis laxa syndrome.

Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis.

Cardiogenic shock following acute MI in a young patient with familial hypercholesterolemia, and severe aortic stenosis: A case report.

Atrial septal defect in a pediatric patient with Williams Syndrome: a rare presentation.

Physiological Impact of a Synthetic Elastic Protein in Arterial Diseases Related to Alterations of Elastic Fibers: Effect on the Aorta of Elastin-Haploinsufficient Male and Female Mice.

Repair of a stenotic bicuspid aortic valve by extensive leaflet shaving and commissuroplasty.

Supravalvular aortic stenosis in a case of Williams syndrome.

A case series of rare pathologies of the aorta and the aortic arch in adolescents and younger adults: Transfer of experience for an individualized approach.

Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study.

Isolated ostial left main coronary artery stenosis causing ischemic cardiomyopathy in a child with bicuspid aortic valve: Role of echocardiography in diagnosis and follow-up.

From supravalvular to valvular aortic stenosis: are statins contributing to the phenotypic shift in homozygous familial hypercholesterolaemia?

Surgical Treatment of Adult Williams-Beuren Syndrome with Pulmonary Arteriovenous Fistula.

Aortic stenosis in homozygous familial hypercholesterolaemia: a paradigm shift over a century.

Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.

Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan.

Congenital supravalvular aortic stenosis in a kitten.

An update on lipid apheresis for familial hypercholesterolemia.

A DOUBLE DOSE OF AORTIC STENOSIS: AN UNUSUAL CASE.

The Dysfunctional Scenario of the Major Components Responsible for Myocardial Calcium Balance in Heart Failure Induced by Aortic Stenosis.

Valvular and supravalvular aortic stenosis fifteen years after coronary artery bypass grafting in a patient with familial hypercholesterolaemia.

Elastin, arterial mechanics, and stenosis.

Paradoxical Cerebral Air Embolism after Cardiac Ablation in Williams-Beuren Syndrome: A Clinico-Pathological Correlation.

A rare combination of cardiovascular anomaly: Aortic stenosis at sinotubular junction level and discontinuity of right coronary artery.

JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency.

A Case of William's Syndrome in a Ugandan Child: A Feasible Diagnosis Even in a Low-Resource Setting.

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool.

Comparison of Doty and McGoon techniques for surgical reconstruction of congenital supravalvular aortic stenosis.

Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases.

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

Williams Syndrome With Rare Ureteric Abnormality.

An infant with suspected missed diagnosis of Williams syndrome failed weaning off CPB after surgical correction of pulmonary stenosis: a case report and literature review.

Supravalvular aortic stenosis repair: surgical training of 2 repair techniques using 3D-printed models.

H-repair in supravalvular aortic stenosis.

Has Your Physician Heard of Williams-Beuren Syndrome?

Williams Syndrome and Neonatal Cardiac Surgery for Congenital Single Ventricle.

Clinical and genetic characteristics of two cases with Williams-Beuren syndrome.

Midterm Results and Predictors for the Postoperative Vascular Stenosis of Supravalvular Aortic Stenosis.

Numerical analysis of stenoses severity and aortic wall mechanics in patients with supravalvular aortic stenosis.

Influence of Surgical Methods on Hemodynamics in Supravalvular Aortic Stenosis: A Computational Hemodynamic Analysis.

Extracorporeal membrane oxygenation outcomes in children with Williams syndrome: a review of the ELSO registry.

Supravalvular Aortic Stenosis and the Risk of Premature Death Among Patients With Homozygous Familial Hypercholesterolemia.

Sliding Aortoplasty for Severe Supravalvular Aortic Stenosis After the Lecompte Procedure.

A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies.

Progression of a supra-valvular aortic stenosis in adulthood during 13 years.

Letter regarding "Aortopulmonary fistula in a Warmblood mare associated with an aortic aneurysm and supravalvular aortic stenosis".

Computerized virtual surgery based on computational fluid dynamics simulation for planning coronary revascularization with aortic root replacement in adult congenital heart disease: a case report.

An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.

Surgical repair of coronary artery ostial stenosis in patients with Williams and elastin arteriopathy syndromes.

Surgical Techniques in Management of Supravalvular Aortic Stenosis in Children.

Aortopulmonary fistula in a Warmblood mare associated with an aortic aneurysm and supravalvular aortic stenosis.

Successful pharmacological management of a child with compound heterozygous familial hypercholesterolemia and review of the recent literature.

Cardioprotection Generated by Aerobic Exercise Training is Not Related to the Proliferation of Cardiomyocytes and Angiotensin-(1-7) Levels in the Hearts of Rats with Supravalvar Aortic Stenosis.

Adjustments in β-Adrenergic Signaling Contribute to the Amelioration of Cardiac Dysfunction by Exercise Training in Supravalvular Aortic Stenosis.

Primary repair of transposition of the great arteries with an interrupted aortic arch: a case report and literature review.

Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.

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

[Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis].

Anesthetic Considerations for Patients With Williams Syndrome.

Requirement for repetitive surgical approaches at supravalvular aortic stenosis.

Health Care Supervision for Children With Williams Syndrome.

Cardiovascular abnormalities in patient with Williams-Beuren syndrome.

A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells.

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing.

Atrial septal defects, supravalvular aortic stenosis and syndromes predisposing to aneurysm of large vessels.

Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis.

Avoidance of malignant arrhythmia caused by displacement of the right coronary artery ostium in surgical correction of supravalvular aortic stenosis.

Corrigendum to "Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis." [Int. J. Cardiol., 274 (2019) 290-295].

Long-term Surgical Prognosis of Primary Supravalvular Aortic Stenosis Repair.

Long-term cardiovascular outcome of Williams syndrome.

Successful Percutaneous Balloon Dilatation of Supravalvular Aortic Membrane.

A complex association of cardiomyopathy, mild dysmorphisms and leukoencephalopathy.

Aortic Root Enlargement and Aortic Valve Replacement for Calcified Supravalvular and Valvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: A Case Report.

Balloon angioplasty for supravalvular aortic stenosis as an early complication following arterial switch operation.

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.

Three-Patch Aortic Root Reconstruction With Extended Left Main Coronary Artery Patch Augmentation in Neonates and Infants.

Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis.

Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.

Early and mid-term outcomes after surgical repair of congenital supravalvular aortic stenosis with the Doty technique.

Medical, Cognitive, and Psychiatric Characteristics in a Large Israeli Cohort of Individuals with Williams Syndrome.

Elastin, arterial mechanics, and cardiovascular disease.

Multiscale modeling of keratin, collagen, elastin and related human diseases: Perspectives from atomistic to coarse-grained molecular dynamics simulations.

Two Cases of Surgical Management of Supravalvular Aortic Stenosis in Familial Hypercholesterolemia.

Supravalvular aortic stenosis with a chronic type A aortic dissection.

Brom Aortoplasty for Supravalvular Aortic Stenosis.

Surgical Correction of Supravalvar Aortic Stenosis: 52 Years' Experience.

Minoxidil improves vascular compliance, restores cerebral blood flow, and alters extracellular matrix gene expression in a model of chronic vascular stiffness.

Diminutive Porcelain Ascending Aorta With Supravalvular Aortic Stenosis.

Diffuse hypoplasia of the aortic arch and isthmus in a patient with Williams syndrome.

[Atypical deletions in Williams-Beuren syndrome].

Early and late outcomes after surgical repair of congenital supravalvular aortic stenosis: a European Congenital Heart Surgeons Association multicentric study.

Aspergillus Infection in an Immunocompetent Host With Supravalvular Aortic Stenosis.

[Clinical and genetic characteristics of Williams-Beuren syndrome: 2 cases report].

Isolated supravalvular aortic stenosis with left ventricular diverticulum and cleft mitral valve: Surgical repair in adulthood.

Surgical strategies and outcomes of congenital supravalvular aortic stenosis.

Isolated Diffuse Supravalvular Aortic Stenosis with Severe Aortic Narrowing in a 41-Year-Old Man.

Non ST-Elevation Myocardial Infarction in a Patient with Supravalvular Aortic Stenosis. Role of Multi-Modality Imaging.

Isolated Supravalular Aortic Stenosis with Infective Endocarditis presenting as Pyrexia of Unknown Origin.

The “elfin face”: craniofacial and dental aspects of the Williams-Beuren syndrome.

Evaluation of the congenital supravalvular aortic stenosis by different imaging modalities.

Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?

Computerized Tomography Use in Williams-Beuren Syndrome Aortopathy.

Iatrogenic Supravalvular Aortic Stenosis.

What's the Skinny on Elastin Deficiency and Supravalvular Aortic Stenosis?

A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome.

Importance of SERCA2a on early isolated diastolic dysfunction induced by supravalvular aortic stenosis in rats.

High-resolution single nucleotide polymorphism arrays identified an atypical microdeletion of the Williams-Beuren syndrome interval in a patient presenting with a different phenotype.

Williams Syndrome and 15q Duplication: Coincidence versus Association.

[Reintervention with percutaneous balloon angioplasty in patients with congenital heart disease with left-sided obstructions].

Sudden Death Due to Unusual Complication of Takayasu Arteritis: An Autopsy Case.

Successful delivery in a patient with isolated supravalvular aortic stenosis.

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

High-pressure balloon dilation in a dog with supravalvular aortic stenosis.

Application of the CardioCel bovine pericardial patch - a preliminary report.

Bovine aortic arch with supravalvular aortic stenosis.

The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.

Tissue-Engineered Vascular Rings from Human iPSC-Derived Smooth Muscle Cells.

Elastins from patients with Williams-Beuren syndrome and healthy individuals differ on the molecular level.

Systolic flow displacement using 3D magnetic resonance imaging in an experimental model of ascending aorta aneurysm: impact of rheological factors.

Recurrent pulseless electrical activity in a patient with coronary vasospasm and supravalvular aortic stenosis: a case report.

Endocrine dysfunctions in children with Williams-Beuren syndrome.

Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation.

Early Manifestation of Supravalvular Aortic and Pulmonary Artery Stenosis in a Patient with Williams Syndrome.

Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.

Double chamber right ventricle in Williams syndrome: a rare cardiac anomaly reported.

Cleft Anterior Mitral Leaflet with Supravalvular Aortic Stenosis a Rare Association.

Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis.

[Genotype and phenotype analysis of two patients with Williams syndrome].

Novel three-sinus enlargement technique for supravalvular aortic stenosis without aortic transection.

Disseminated Peripheral Mycotic Aneurysms and Septic Embolizations Related to an Infected Stent Deployed for Restenosis of Surgically Repaired Supravalvular Aortic Stenosis.

Coronary ostium occlusion by coronary cusp displacement in Williams syndrome.

Coronary Artery Involvement of Williams Syndrome in Infants and Surgical Revascularization Strategy.

Severe Congenital Obstruction of the Left Main Coronary Artery Coexisting With Supravalvular Aortic Stenosis in Williams Syndrome: A Dangerous Association.

A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations.

Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.

Cerebral Hyperperfusion Syndrome After Surgical Repair of Congenital Supravalvular Aortic Stenosis.

Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.

Multi-district coronary tree involvement in a 17-year-old girl with Williams-Beuren syndrome.

Atypical Williams syndrome in an infant with complete atrioventricular canal defect.