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Pediatric Supravalvar Aortic Stenosis

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Heart transplantation in an infant with Williams-Beuren syndrome and rapidly progressive ischemic cardiomyopathy.

Nathanya Baez Hernandez, Richard Kirk, Ryan Davies, Jessica Roumillat, David Sutcliffe, Maria Bano, Ryan Butts,

Ischemic cardiomyopathy with resultant refractory HF may occur in patients with WBS, often as the result of coronary involvement with SVAS. The rapid development of arteriopathy at a young age raises concerns regarding transplant candidacy due to progressive stenoses at other arterial sites with potential detrimental impact on long-term heart ... Read more >>

Pediatr Transplant (Pediatric transplantation)
[2020, :e13688]

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Williams Syndrome Presenting with Intractable Staphylococcus aureus Endocarditis.

Can Yilmaz Yozgat, Selcuk Uzuner, Osman Yesilbas, Burcu Bursal Duramaz, Yilmaz Yozgat, Akin Iscan, Ozden Turel,

Indian J Pediatr (Indian journal of pediatrics)
[2020, :]

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Anesthetic Considerations for Patients With Williams Syndrome.

Genevieve E Staudt, Susan S Eagle,

Williams syndrome (WS) is a relatively rare congenital disorder which manifests across multiple organ systems with a wide spectrum of severity. Cardiovascular anomalies are the most common and concerning manifestations of WS, with supravalvar aortic stenosis present in up to 70% of patients with WS. Although a relatively rare disease, ... Read more >>

J. Cardiothorac. Vasc. Anesth. (Journal of cardiothoracic and vascular anesthesia)
[2020, :]

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Surgical Repair of Peripheral Pulmonary Artery Stenosis in Patients Without Williams or Alagille Syndromes.

Elisabeth Martin, Richard D Mainwaring, R Thomas Collins, Kirstie L MacMillen, Frank L Hanley,

Peripheral pulmonary artery stenosis is a relatively rare form of congenital heart disease typically associated with genetic syndromes, such as Williams or Alagille syndromes. However, some patients present with severe stenosis without associated syndromes. The purpose of the study was to review our surgical experience in such patients. This was ... Read more >>

Semin. Thorac. Cardiovasc. Surg. (Seminars in thoracic and cardiovascular surgery)
[2020, :]

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Development of a Ductal Aneurysm in a Patient with Williams Syndrome, and Subsequent Interventional Closure.

Gert van den Berg, Willem A Helbing, Ingrid van Beynum, Thomas B Krasemann,

Whilst stenosis of systemic and pulmonary arteries in Williams syndrome is frequently described, aneurysm formation is uncommon. We provide the first description of a Williams patient with development of an aneurysm of the arterial duct. This aneurysm developed concomitantly with supravalvar aortic, and peripheral pulmonary stenosis. The duct was closed ... Read more >>

Pediatr Cardiol (Pediatric cardiology)
[2020, 41(1):213-214]

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Severe Mitral Valve Regurgitation due to Significant Coronary Artery Stenosis in a 14-month-old boy with Williams-Beuren Syndrome.

Andreas Hornung, Ludger Sieverding, Christian Schlensak, Michael Hofbeck,

Klin Padiatr (Klinische Padiatrie)
[2020, 232(1):40-42]

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Visuospatial bias in line bisection in Williams syndrome.

A Saj, J Heiz, L Van Calster, K Barisnikov,

BACKGROUND:Recently, a study using the subjective straight-ahead task showed that individuals with Williams syndrome (WS) present a bias in the representation of body perception. The aim of the present study is to examine the horizontal midline body representation in WS participants using the bisection line task, which is an important ... Read more >>

J Intellect Disabil Res (Journal of intellectual disability research : JIDR)
[2020, 64(1):57-61]

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Requirement for repetitive surgical approaches at supravalvular aortic stenosis.

Gökmen Akkaya, Çağatay Bilen, Osman Nuri Tuncer, Yüksel Atay,

Supravalvular aortic stenosis, which is a rare congenital cardiac anomaly, is associated with several lesions and has a progressive nature. Herein, we report a five-year-old girl with bicuspid aorta who underwent initial Doty operation at the age of nine months. A combined redo Doty operation and an aortic valve commissurotomy ... Read more >>

Turk Gogus Kalp Damar Cerrahisi Derg (Turk gogus kalp damar cerrahisi dergisi)
[2019, 27(4):572-575]

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Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation.

Ting Hu, Zhu Zhang, Jiamin Wang, Qinqin Li, Hongmei Zhu, Yi Lai, He Wang, Shanling Liu,

Introduction:Chromosomal microarray analysis (CMA) has currently been considered as the first-tier genetic test for patients with developmental delay/intellectual disability (DD/ID) in many countries. In this study, we performed an extensive assessment of the value of CMA for the diagnosis of children with ID/DD in China. Methods:A total of 633 patients ... Read more >>

Biomed Res Int (BioMed research international)
[2019, 2019:9352581]

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

Kaori Sugiyama, Hitoshi Horigome, Lisheng Lin, Takashi Murakami, Junko Shiono, Yoshito Yamashiro, Hiroyuki Matsuura, Hitoshi Yoda, Hiromi Yanagisawa,

BACKGROUND:Supravalvular aortic stenosis (SVAS) is one of the congenital cardiovascular diseases characterized by stenosis of the aorta. The stenotic lesions occur anywhere above the aortic valve in the aortic tree as well as pulmonary arteries and eventually leads to circulatory failure. The disease gene has been identified on the elastin ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2019, 7(11):e986]

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Quality of life in children with infrequent congenital heart defects: cohort study with one-year of follow-up.

Karen Moreno-Medina, Magally Barrera-Castañeda, Catalina Vargas-Acevedo, Alberto E García-Torres, Miguel Ronderos, Manuel Huertas-Quiñones, Silvana Cabrera, María Teresa Domínguez, Nestor Sandoval Reyes, Rodolfo J Dennis,

BACKGROUND:The evidence regarding patient related outcomes in children with infrequent congenital heart defects (I-CHD) is very limited. We sought to measure quality of life (QoL) in children with I-CHD, and secondarily, to describe QoL changes after one-year of follow-up, self-reported by children and through their caregivers' perspective. METHODS:We assembled a ... Read more >>

Health Qual Life Outcomes (Health and quality of life outcomes)
[2020, 18(1):5]

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A survey of primary-care pediatricians regarding the management of Helicobacter pylori infection and celiac disease.

Amir Ben Tov, Wasef Na'amnih, Amna Bdair-Amsha, Shlomi Cohen, Judith Tzamir, Gabriel Chodick, Khitam Muhsen,

BACKGROUND:Adherence of primary-care pediatricians to guidelines in pediatric gastroenterology is essential to achieve optimal clinical outcomes. The study aim was to examine adherence of primary-care pediatricians to the European and North American Societies for Pediatric Gastroenterology, Hepatology and Nutrition guidelines on the management of Helicobacter pylori (H. pylori) infection and ... Read more >>

Isr J Health Policy Res (Israel Journal of Health Policy Research)
[2019, 8(1):88]

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Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His.

Mohamed Aashiq, Asma Jassim Malallah, Farheen Khan, Maryam Alsada,

Familial hypocalciuric hypercalcemia (FHH) is usually a benign condition divided into three types. FHH-3 occurs in about 20% of the cases and is caused due to missense mutations in AP2S1 (adaptor-related protein complex 2 subunit sigma 1) involving the codon Arg15 (p.R15). We report a case of FHH-3 with a ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:7312894]

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Childhood-onset Takayasu Arteritis.

Florence A. Aeschlimann, Marinka Twilt, Rae S. M. Yeung,

Childhood-onset Takayasu Arteritis (cTAK) is a rare, large-vessel type of vasculitis seen in children, mainly affecting the aorta and its major branches. Clinical manifestations are often severe and arise as a result of systemic and local inflammation, along with end-organ ischemia. Disease flares are common and the disease burden is ... Read more >>

(European Journal of Rheumatology)
[2020, 7(Suppl 1):S58-S66]

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A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.

Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Fang Xu, Qinghua Zhou, Jiadi Wen, Maurice Mahoney, Allen Bale, James McGrath, Michele Spencer-Manzon, Peining Li, Hui Zhang,

Background: Array comparative genomic hybridization (aCGH), karyotyping and fluorescence in situ hybridization (FISH) analyses have been used in a clinical cytogenetic laboratory. A systematic analysis on diagnostic findings of cytogenomic abnormalities in current prenatal and pediatric settings provides approaches for future improvement. Methods: A retrospective analysis was performed on abnormal ... Read more >>

Front Genet (Frontiers in genetics)
[2019, 10:1162]

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The Use of a Fixation Dressing to Reduce Complications After Neonatal Gastrostomy Tube Placement.

Emily H. Steen, Jill M. Tuley, Swathi Balaji, Timothy C. Lee, Sundeep G. Keswani,

Objective: Gastrostomy tubes (GTs) are one of the most common procedures in neonatal surgery, and their malfunction represents one of the most common complaints in the emergency room and clinic. Complications can occur in up to one-third of patients and include pain, peristomal leak, and infection, but can range in ... Read more >>

(Advances in Wound Care)
[2020, 9(5):211-218]

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

Bo Peng, Qiang Wang,

J. Int. Med. Res. (The Journal of international medical research)
[2019, 47(11):5702-5710]

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Copy number variations associated with fetal congenital kidney malformations.

Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang, Liangpu Xu,

Background:Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20-30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe. This study aimed to evaluate the applicability of single-nucleotide polymorphism (SNP) array test in prenatal diagnosis of RHD for improving prenatal genetic counseling and ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:11]

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Anesthesia in Pediatric Patients With Congenital Heart Disease Undergoing Noncardiac Surgery: Defining the Risk.

Morgan L Brown, James A DiNardo, Viviane G Nasr,

The incidence of moderate to severe congenital heart disease (CHD) in the United States is estimated to be 6 per 1,000 live-born, full-term infants. Recent advances in pediatric cardiology, surgery, and critical care have improved significantly the survival rates of patients with CHD leading to an increase in prevalence in ... Read more >>

J. Cardiothorac. Vasc. Anesth. (Journal of cardiothoracic and vascular anesthesia)
[2020, 34(2):470-478]

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Diagnosis and treatment of abnormal left coronary artery originating from the pulmonary artery: A single-center experience.

Kahraman Yakut, Niyazi Kursad Tokel, Murat Ozkan, Birgul Varan, Ilkay Erdogan, Mehmet Sait Aslamaci,

OBJECTIVE:We aimed to review symptoms, findings, surgical treatment options, short- and mid-term outcomes, and reoperation rate of patients diagnosed with of left coronary artery from the pulmonary artery (ALCAPA) of an anomalous origin in our institution. METHODS:From May 2000 to March 2018, 33 patients who had left coronary artery originating ... Read more >>

Anatol J Cardiol (Anatolian journal of cardiology)
[2019, 22(6):325-331]

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MON-254 Fragility Fracture in a Pediatric Patient with Williams-Beuren Syndrome.

Kristin Favela, Yaa Kumah-Crystal,

Abstract : Williams-Beuren syndrome (WBS) is a genetic disorder arising from a microdeletion involving the elastin gene. There are several well-defined effects of WBS across multiple organ systems, but less clear is the effect of this syndrome on bone metabolism. While there is literature to suggest that adults with WBS ... Read more >>

J Endocr Soc (Journal of the Endocrine Society)
[2019, 3(Suppl 1):]

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MON-253 Severe Infantile Hypercalcemia in Williams-Beuren Syndrome.

Hamza Nasir, Andrea Mucci, Douglas Rogers,

Abstract Williams-Beuren Syndrome (WBS) is due to a microdeletion on chromosome 7q11, and is associated with facial dysmorphisms, supravalvular aortic stenosis, a sociable personality and infantile hypercalcemia that is clasically mild and transient. Here we describe an infant found to have incidental severe hypercalcemia that led to a diagnosis ... Read more >>

J Endocr Soc (Journal of the Endocrine Society)
[2019, 3(Suppl 1):]

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Sudden cardiac death associated with cardiac catheterization in Williams syndrome: a case report and review of literature.

Samer Abu-Sultaneh, Mercia J Gondim, Ryan D Alexy, Christopher W Mastropietro,

Williams syndrome is a rare genetic disease that affects elastin production, leading to medium and large vessel stenoses and other abnormalities. Cardiac manifestations of Williams syndrome are the most life-threatening, occurring in 80% of children. Children with Williams syndrome are known to be at risk for sudden cardiac death. These ... Read more >>

Cardiol Young (Cardiology in the young)
[2019, :1-5]

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Intraoperative sudden cardiac death in pediatric patients - Calamity yet to overcome?

Ajita Suhrid Annachhatre,

Ann Card Anaesth (Annals of cardiac anaesthesia)
[2019, 22(2):213-214]

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Cardiac arrest after induction of anesthesia in a 2-month-old infant with undiagnosed Williams syndrome.

Julie D Dunlap, Morton C Green, Aali M Shah, Brandon T Kibby, Deborah F Billmire,

A 2-month-old male infant presented for elective repair of inguinal hernias. His preoperative medical history and physical examination were unremarkable. During induction of anesthesia, the infant sustained an adverse cardiac event. The event was characterized by tachycardia, hypotension, and massive ST-segment elevation. Despite vigorous resuscitation, spontaneous hemodynamic stability could not ... Read more >>

Ann Card Anaesth (Annals of cardiac anaesthesia)
[2019, 22(2):210-212]

Cited: 1 time

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