Research & Literature

Extracorporeal cardiopulmonary resuscitation for breath-holding spells followed by cardiac arrest due to left main coronary artery stenosis.

Ozyilmaz I, Altin HF, Yildiz O, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2015; (57(3)):468-71 doi:10.1111/ped.12512.

Supravalvular aortic stenosis with sudden cardiac death.

Vaideeswar P, Regi P

Annals of pediatric cardiology 2015; (8(2)):134-6 doi:10.4103/0974-2069.157027.

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

Honjo RS, Dutra RL, Furusawa EA, et al.

BioMed research international 2015; (2015()):903175 doi:10.1155/2015/903175.

Chronic antihypertensive treatment improves pulse pressure but not large artery mechanics in a mouse model of congenital vascular stiffness.

Halabi CM, Broekelmann TJ, Knutsen RH, et al.

American journal of physiology. Heart and circulatory physiology 2015; (309(5)):H1008-16 doi:10.1152/ajpheart.00288.2015.

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

Szaflik K, Kaźmierczak P, Moll JJ, Moll JA

World journal for pediatric & congenital heart surgery 2016; (7(2)):216-9 doi:10.1177/2150135115586269.

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

Federici D, Ranghetti A, Merlo M, et al.

The Annals of thoracic surgery 2016; (101(1)):359-61.

Coronary ostium occlusion by coronary cusp displacement in Williams syndrome.

Shiohama T, Fujii K, Ebata R, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2016; (58(6)):487-490 doi:10.1111/ped.12828.

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

Yokoyama S, Nagato H, Yoshida Y, et al.

Journal of cardiothoracic surgery 2016; (11()):4 doi:10.1186/s13019-016-0403-5.

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

Misra A, Sheikh AQ, Kumar A, et al.

The Journal of experimental medicine 2016; (213(3)):451-63 doi:10.1084/jem.20150688.

Perioperative morbidity in children with elastin arteriopathy.

Latham GJ, Ross FJ, Eisses MJ, et al.

Paediatric anaesthesia 2016; (26(9)):926-35 doi:10.1111/pan.12967.

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

Jelsig AM, Urban Z, Hucthagowder V, et al.

European journal of medical genetics 2017; (60(2)):110-113 doi:10.1016/j.ejmg.2016.11.004.

Deficient Circumferential Growth Is the Primary Determinant of Aortic Obstruction Attributable to Partial Elastin Deficiency.

Jiao Y, Li G, Korneva A, et al.

Arteriosclerosis, thrombosis, and vascular biology 2017; (37(5)):930-941 doi:10.1161/ATVBAHA.117.309079.

Isolated Supravalvar Aortic Stenosis Without William's Syndrome.

Cuenza LR, Adiong AA

Journal of cardiovascular echography 2015; (25(3)):93-95 doi:10.4103/2211-4122.166089.

Computerized Tomography Use in Williams-Beuren Syndrome Aortopathy.

Kalis NN, Sulaibikh LK, Al Amer SR, Al Amer HY

Heart views : the official journal of the Gulf Heart Association 2017; (18(1)):21-25 doi:10.4103/1995-705X.206205.

Diminutive Porcelain Ascending Aorta With Supravalvular Aortic Stenosis.

Houmsse M, McDavid A, Kilic A

The Annals of thoracic surgery 2018; (105(5)):e219-e220 doi:10.1016/j.athoracsur.2017.11.050.

Anatomical features of the aortic root in aortic stenosis and a novel approach for transcatheter aortic valve implantation.

Tada N, Inoue T, Matsumoto T, et al.

Heart and vessels 2018; (33(8)):908-917 doi:10.1007/s00380-018-1130-8.

Williams Syndrome and Anesthesia for Non-cardiac Surgery: High Risk Can Be Mitigated with Appropriate Planning.

Brown ML, Nasr VG, Toohey R, DiNardo JA

Pediatric cardiology 2018; (39(6)):1123-1128 doi:10.1007/s00246-018-1864-1.

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

Andersen ND, Borisuk MJ, Hoganson DM, et al.

Seminars in thoracic and cardiovascular surgery 2019; (31(1)):99-101 doi:10.1053/j.semtcvs.2018.08.005.

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.

Hayano S, Okuno Y, Tsutsumi M, et al.

International journal of cardiology 2019; (274()):290-295 doi:10.1016/j.ijcard.2018.09.032.

Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.

Xia Y, Huang S, Wu Y, et al.

Molecular genetics & genomic medicine 2019; (7(2)):e00517 doi:10.1002/mgg3.517.

Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report.

Streață I, Șerban-Șoșoi S, Budișteanu M, et al.

Current health sciences journal 2016; (42(2)):207-212 doi:10.12865/CHSJ.42.02.14.

Williams syndrome.

Twite MD, Stenquist S, Ing RJ

Paediatric anaesthesia 2019; (29(5)):483-490 doi:10.1111/pan.13620.

Long-term cardiovascular outcome of Williams syndrome.

Cha SG, Song MK, Lee SY, et al.

Congenital heart disease 2019; (14(5)):684-690 doi:10.1111/chd.12810.

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

Wu FY, Mondal A, Del Nido PJ, et al.

The Annals of thoracic surgery 2019; (108(4)):1202-1209 doi:10.1016/j.athoracsur.2019.04.094.

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

Sugiyama K, Horigome H, Lin L, et al.

Molecular genetics & genomic medicine 2019; (7(11)):e986 doi:10.1002/mgg3.986.

Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication.

Zanella M, Vitriolo A, Andirko A, et al.

Science advances 2019; (5(12)):eaaw7908 doi:10.1126/sciadv.aaw7908.

Cardiovascular abnormalities in patient with Williams-Beuren syndrome.

Panfilov DS, Saushkin VV, Kozlov BN

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2020; (58(1)):196-198 doi:10.1093/ejcts/ezz349.

Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.

Kuo HT, Chen CH, Lin CY, et al.

Cytogenetic and genome research 2019; (159(4)):182-189 doi:10.1159/000505282.

Health Care Supervision for Children With Williams Syndrome.

Morris CA, Braddock SR,

Pediatrics 2020; (145(2)) doi:10.1542/peds.2019-3761.

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

Wu D, Zhang M, Gao Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(4)):475-478 doi:10.3760/cma.j.issn.1003-9406.2020.04.028.

Surgical Techniques in Management of Supravalvular Aortic Stenosis in Children.

Ibarra C, Spigel Z, John R, et al.

The Annals of thoracic surgery 2021; (111(6)):2021-2027 doi:10.1016/j.athoracsur.2020.06.118.

Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.

Min S, Kinnear C, D'Alessandro LCA, et al.

Circulation. Genomic and precision medicine 2020; (13(6)):e002971 doi:10.1161/CIRCGEN.120.002971.

Elastin haploinsufficiency in mice has divergent effects on arterial remodeling with aging depending on sex.

Hawes JZ, Cocciolone AJ, Cui AH, et al.

American journal of physiology. Heart and circulatory physiology 2020; (319(6)):H1398-H1408 doi:10.1152/ajpheart.00517.2020.

Acute aortic dissection in a patient with Williams syndrome infected by COVID-19.

Mamishi S, Navaeian A, Shabanian R

Cardiology in the young 2021; (31(1)):132-134 doi:10.1017/S1047951120003236.

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.

Evangelidou P, Kousoulidou L, Salameh N, et al.

European journal of medical genetics 2020; (63(12)):104084 doi:10.1016/j.ejmg.2020.104084.

Left Ventricular Outflow Tract Gradient Is Associated With Coronary Artery Obstruction in Children With Williams-Beuren Syndrome.

Tan AYJ, Quiat D, Ghelani SJ, Yuki K

Journal of cardiothoracic and vascular anesthesia 2021; (35(12)):3677-3680 doi:10.1053/j.jvca.2020.12.050.

Supravalvar aortic stenosis: Imaging characteristics and associations on multidetector computed tomography angiography.

Sinha M, Parashar N, Pandey NN, et al.

Journal of cardiac surgery 2021; (36(4)):1389-1400 doi:10.1111/jocs.15415.

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

Hu J, Liu J, Jiang Q, et al.

Pediatric cardiology 2021; (42(8)):1730-1739 doi:10.1007/s00246-021-02657-3.

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

Hu J, Chen H, Dong W, et al.

Seminars in thoracic and cardiovascular surgery 2021; (33(4)):1069-1079 doi:10.1053/j.semtcvs.2021.07.012.

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

Honjo RS, Monteleone VF, Aiello VD, et al.

American journal of medical genetics. Part A 2022; (188(2)):676-682 doi:10.1002/ajmg.a.62542.

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

Biçer M, Dedemoğlu M, Korun O, et al.

Cardiology in the young 2022; (32(9)):1483-1490 doi:10.1017/S1047951121004467.

Perceval sutureless aortic valve replacement after ascending aortic replacement.

Yajima S, Satoh A, Sekiya N, et al.

Clinical case reports 2021; (9(12)):e05126 doi:10.1002/ccr3.5126.

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

Dave JM, Chakraborty R, Ntokou A, et al.

The Journal of clinical investigation 2022; (132(5)).

Elastin, arterial mechanics, and stenosis.

Lin CJ, Cocciolone AJ, Wagenseil JE

American journal of physiology. Cell physiology 2022; (322(5)):C875-C886 doi:10.1152/ajpcell.00448.2021.

Surgical Repair of Supravalvar Aortic Stenosis in Association With Transverse and Proximal Descending Aortic Abnormalities.

Mainwaring RD, Collins RT, Ma M, et al.

World journal for pediatric & congenital heart surgery 2022; (13(3)):353-360 doi:10.1177/21501351221085975.

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

Lee CL, Lin SM, Chen MR, et al.

Journal of personalized medicine 2022; (12(5)) doi:10.3390/jpm12050817.

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

Huryn LA, Flaherty T, Nolen R, et al.

The British journal of ophthalmology 2023; (107(10)):1554-1559 doi:10.1136/bjophthalmol-2022-321103.

Assessment of three types of surgical procedures for supravalvar aortic stenosis: A systematic review and meta-analysis.

Lv L, Lang X, Zhang S, et al.

Frontiers in cardiovascular medicine 2022; (9()):987522 doi:10.3389/fcvm.2022.987522.

Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation.

Markush D, Sanchez-Lara PA, Grand K, et al.

Pediatric cardiology 2023; (44(4)):946-950 doi:10.1007/s00246-022-03089-3.

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

Meccanici F, Notenboom ML, Meijssen J, et al.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2024; (65(1)) doi:10.1093/ejcts/ezad360.

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

Chen R, Cao JF, Wang ZJ, et al.

Journal of clinical ultrasound : JCU 2024; (52(3)):315-317 doi:10.1002/jcu.23621.

Effect of Sinotubular Junction Size on TAVR Leaflet Thrombosis: A Fluid-structure Interaction Analysis.

Oks D, Reza S, Vázquez M, et al.

medRxiv : the preprint server for health sciences 2023; doi:10.1101/2023.11.13.23298476.

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

Saito J, Dave JM, Lau FD, Greif DM

iScience 2024; (27(1)):108636 doi:10.1016/j.isci.2023.108636.

Long-term Outcomes After Surgical Intervention for Congenital Supravalvar Aortic Stenosis in Children.

Zinyandu T, Knight JH, Thomas AS, et al.

The Annals of thoracic surgery 2024; (117(5)):965-972 doi:10.1016/j.athoracsur.2024.01.020.

Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.

Stephens SB, Novy T, Spurzem GN, et al.

Journal of the American Heart Association 2024; (13(8)):e034048 doi:10.1161/JAHA.123.034048.

Aortic root morphometry revisited-Clinical implications for aortic valve interventions.

Dudkiewicz D, Lis M, Yakovliev A, et al.

Clinical anatomy (New York, N.Y.) 2024; (37(7)):719-729 doi:10.1002/ca.24165.

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

Orgun A, Tokel KN, Erdoğan İ, et al.

The Turkish journal of pediatrics 2024; (66(2)):215-225 doi:10.24953/turkjpediatr.2024.4591.

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

Wang Z, Ma K, Li S

Pediatric cardiology 2025; (46(5)):1358-1371 doi:10.1007/s00246-024-03557-y.

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

Yagual-Gutiérrez EB, Freire-Barrezueta IM, Hernandez-Duarte MC, et al.

Archivos de cardiologia de Mexico 2024; doi:10.24875/ACM.24000089.

Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.

de Oliveira KMK, Simões LO, Dos Santos AM, Steiner CE

Cytogenetic and genome research 2024; (164(3-4)):139-147 doi:10.1159/000540941.

Clinical Care for Cardiovascular Disease in Patients With Williams-Beuren Syndrome.

Collins RT, Gravenhorst V, Faury G, et al.

Journal of the American Heart Association 2024; (13(19)):e036997 doi:10.1161/JAHA.124.036997.

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

Hara M, Honda Y, Kaga S, et al.

Surgical case reports 2024; (10(1)):242 doi:10.1186/s40792-024-02039-w.

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

Lv L, Sun Y, Zhang S, et al.

Reviews in cardiovascular medicine 2024; (25(10)):384 doi:10.31083/j.rcm2510384.

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

Sun Y, Lv L, Lang X, et al.

European journal of medical research 2025; (30(1)):26 doi:10.1186/s40001-024-02257-w.

Toward a rational therapeutic for elastin related disease: Key considerations for elastin based regenerative medicine strategies.

Ganjibakhsh M, Tkachenko Y, Knutsen RH, Kozel BA

Matrix biology : journal of the International Society for Matrix Biology 2025; (138()):8-21 doi:10.1016/j.matbio.2025.03.003.

Clinical course and outcomes of supravalvular aortic stenosis in adults.

de Keijzer AR, Keuning ZA, Meccanici F, et al.

Open heart 2025; (12(1)) doi:10.1136/openhrt-2025-003355.

Surgical Insights into the Functional Anatomy of the Neo-aortic Root.

Dakik L, Najm HK, Belitsis G, et al.

World journal for pediatric & congenital heart surgery 2026; (17(3)):295-309 doi:10.1177/21501351251386417.

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

Schaeffer T, Bellastrada T, Kienmoser D, et al.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2026; (68(2)) doi:10.1093/ejcts/ezag062.