Supravalvular Aortic Stenosis Research Articles

Williams-Beuren syndrome: computed tomography imaging review.

Williams-Beuren syndrome (WBS) affects young infants and children. The underlying etiopathogenesis of this rare disease is due to the mutation of the elastin gene that is responsible for the elasticity of the arterial wall. As a result of inadequate elastin production, the major systemic arteries become abnormally rigid and can be manifested by an impediment to the blood flow. The most common cardiovascular abnormalities encountered in WBS are supravalvular aortic stenosis, pulmonary arterial stenosis, and mitral valve prolapse. Less frequently observed cardiovascular abnormalities include coarctation of the aorta, ventricular septal defect, patent ductus, subaortic stenosis, and hypertrophic cardiomyopathy. Coronary artery stenosis and severe impediment to the bi-ventricular outflow as a result of supravalvular aortic and pulmonary artery stenosis predispose patients to sudden death. Patients with progressed arterial stenosis and severe stenosis are likely to require intervention to prevent serious complications. Rarely, imaging findings may precede clinical presentation, which allows the radiologist to participate in the patient care. However, to be more prudent, the radiologist must be accustomed to the imaging characteristics of WBS as well as the patient's clinical information, which could raise the suspicion of WBS. We performed a retrospective analysis of all the available images from patients diagnosed with WBS in last 4 years at our institution, and present key imaging findings along with a review of the literature to summarize the clinically relevant features as demonstrated by multidetector computed tomography in WBS. Cross-sectional imaging plays a vital role in the diagnosis of WBS cases with equivocal clinical features. MDCT evaluation of complex cardiovascular abnormalities of WBS including coronary artery disease is feasible with modern MDCT scanners and in the future, this approach could provide accurate information for planning, navigation, and noninvasive assessment of the secondary arterial changes in WBS and thus reducing the dependence upon invasive contrast catherization techniques.

Inhibition of ERK1/2 phosphorylation: a new strategy to stimulate elastogenesis in the aorta.

Haploinsufficiency of elastin leads, in more than half of patients with Williams-Beuren syndrome, to development of supravalvular aortic stenosis and hypertension. Determining mechanisms implicated in elastin synthesis would be of interest to find new elastogenic molecules to treat such a pathology. Here, we analyzed the signaling pathway linking intracellular calcium concentration to elastin regulation to find new molecules able to increase elastin synthesis. Their elastogenic ability was then investigated, in vitro and in vivo, using inhibitors of the highlighted pathway. The Brown Norway rat strain was used here as an arterial elastin-deficient model. Our data indicated that A23187, a calcium ionophore, decreases elastin expression in cultured vascular smooth muscle cells, both transcriptionally and post-transcriptionally. Addition of A23187 induced transient activation of extracellular signal-regulated kinases 1/2, leading to an upregulation of activator protein-1 transcription factors, which correlated with the inhibition of elastin gene transcription. Pretreatment with U0126, an inhibitor of extracellular signal-regulated kinases 1/2 phosphorylation, abolished the inhibition of elastin gene transcription by A23187. In vitro, U0126 increased elastin synthesis and in vivo, 24 hours after an intravenous administration, elastin gene transcription and elastin mRNA levels were increased in the rat aorta. A chronic treatment, diffusing U0126 for 10 weeks, increased aortic elastin content without changing cell number and collagen content. In conclusion, calcium ionophore represses elastin gene transcription via activation of extracellular signal-regulated kinases 1/2 pathway and activator protein-1 transcription factors. Moreover, we provide strong evidence that inhibition of extracellular signal-regulated kinases 1/2 increases elastin synthesis and could thus be suitable for treating vascular pathologies characterized by diminished arterial elastin content.

Construction and evaluation of rat supravalvular aortic stenosis model through small incision on the suprasternal fossa

Objective To investigate rat supravalvular aortic stenosis model via small incision on the suprasternal fossa without artificial ventilation.Methods Sprague-Dawley rats were randomly assigned to the aortic banding group (n =50) and the sham-operation group (n =40).The former underwent aortic banding through small incision on the suprastemal fossa without artificial ventilation,and the latter received the same procedures but without actual ligation of the aorta.Echocardiography and myocardial pathological examination were implemented to observe how the heart physiological parameters changed before and after operation.The results were analyzed by using independent sample t test.Results The survival rate was 84％ in banding group,while 92.5％ in sham group.Echocardiography examination showed:(1) At 3rd week after surgical operation,the left ventricle in banding group,which was different from sham-operation group,exhibited obvious concentric hypertrophy.Significant difference in the data on left ventricular posterior wall thick-ness [LVPW,(2.20±0.24) mm] and left ventricular mass index [LVMI,(3.11 ±0.69) mg/g] was observed.The above indicators showed a slight upward trend at 6th,9th,and 12th week after surgical operation; (2) At 9th week after surgical operation,the left ventricle in banding group got eccentric hypertrophy and the values of left ventricular endsystolic dimension [LVESd,(3.25 ±0.61) mm] and left ventricular end-diastolic diameter [LVEDd,(5.64 ± 0.97) mm] increased markedly ; (3) At 12th week later,the symptoms of decompensated heart failure appeared in banding group.The left ventricular ejection fractions [(41.00 ±9.23)％] decreased dramatically.Histological examinations revealed that the banding group exhibited disorganized cardiomyocytes,enlarged nuclei and increased cytoplasmic,and significant interstitial collagen fibers.However,the sham group displayed normal structure.Conclusion These facts confirm that we can effectively establish rat supravalvular aortic stenosis model through this modified method with simple,less-invasive and reproducible features. Key words: Small incision; Without artificial ventilation; Ascending aorta stenosis; Left ventricular hypertrophy; Model, animal

Estenosis congénita a la salida del ventrículo izquierdo. Técnicas y resultados

Left ventricle congenital outflow tract obstruction consists of a narrowing of one or more levels of the outlet portion that conditions pressure overload, and represents 5–6% of all congenital heart diseases.Possible clinical manifestations (heart failure, angina, syncope and/or endocarditis) are variable in frequency and temporal onset, although nowadays most patients are asymptomatic at the time of surgery. Severe forms of valvular aortic stenosis are the first to debut clinically. Subvalvular aortic stenosis is rare in neonates and infants and more common in young children, and often associated with aortic valve stenosis. The supravalvular aortic stenosis is the rarest of the three forms of congenital aortic stenosis, and has a strong association with Williams–Beuren syndrome.Echocardiography remains the diagnostic test of choice in the preoperative and postoperative evaluation of congenital left outflow tract obstruction.The different surgical repair techniques and in-hospital and subsequent follow-up results are reviewed.

Surgical treatment of valvular and supravalvular aortic stenosis in homozygous familial hypercholesterolemia

A 61-year-old male with homozygous familial hypercholesterolemia presented with dyspnea and syncope. He had been treated with low-density lipoprotein apheresis for 26 years. Echocardiography and computed tomography showed severe valvular and supravalvular aortic stenosis. Computed tomography and cardiac catheterization revealed a severely calcified narrowed aortic root and an occlusion in the proximal right coronary artery. During surgery, the ascending aorta was replaced under deep hypothermic circulatory arrest without aortic cross-clamping. After that, the aortic root from the annulus to the sino-tubular junction was enlarged with a two-ply bovine pericardial patch. An aortic valve replacement with a 17 mm mechanical valve and coronary artery bypass grafting to the right coronary artery were performed. The patient recovered from the surgery without any cerebrovascular complications.

Supravalvular aortic stenosis as a non-syndromic familial disease. Relevance of familial screening

Supravalvular aortic stenosis (SAS) is a systemic elastin arteriopathy that may be present in a syndromic condition such as Williams–Beuren syndrome or as an isolated condition [ 1 Pieles G.E. Ofoe V. Morgan G.J. Severe left main coronary artery stenosis with abnormal branching pattern in a patient with mild supravalvar aortic stenosis and Williams–Beuren syndrome. Congenit Heart Dis. May 22 2013; https://doi.org/10.1111/chd.12087 Crossref PubMed Scopus (8) Google Scholar , 2 Merla G. Brunetti-Pierri N. Piccolo P. Micale L. Loviglio M.N. Supravalvular aortic stenosis: elastin arteriopathy. Circ Cardiovasc Genet. Dec 2012; 5: 692-696 Crossref PubMed Scopus (55) Google Scholar ]. It has also been associated with familial hypercholesterolemia [ [3] Wang Z. Yang Y. Li Z. Zhang X. Lin J. Wang L. Analysis of coronary flow haemodynamics in homozygous familial hypercholesterolaemic adolescents with aortic supravalvular stenosis. Cardiol Young. May 2012; 30: 1-6 Crossref Scopus (25) Google Scholar ]. We present the case of a 37-year-old woman with supraaortic stenosis surgically treated in which a mutation in 9 intron of elastin gene was present (Fig. 1A , transesophageal echocardiography, Fig. 1B, cardiac CT. Both techniques showing supraaortic stenosis at the level of the sinotubular junction, arrow). Familial screening revealed the same pathology in her oldest son (Fig. 1C and D, 2D transthoracic echocardiogram, supraaortic stenosis with a maximum gradient of 118 mm HG). The elastin gene encodes a protein that is one of the two components of elastic fibers. Deletions and mutations in this gene are associated with supravalvular aortic stenosis and autosomal dominant cutis laxa. The identification of the genetic defect in patients with supravalvular aortic stenosis is absolutely necessary for a definitive diagnosis, prognosis, and genetic counseling. Familial screening is mandatory.

Supravalvar aort stenozunda koroner arter patolojileri

Supravalvar aort stenozunda koroner arter patolojileri

Multivariate analysis for animal selection in experimental research.

BackgroundSeveral researchers seek methods for the selection of homogeneous groups of animals in experimental studies, a fact justified because homogeneity is an indispensable prerequisite for casualization of treatments. The lack of robust methods that comply with statistical and biological principles is the reason why researchers use empirical or subjective methods, influencing their results.ObjectiveTo develop a multivariate statistical model for the selection of a homogeneous group of animals for experimental research and to elaborate a computational package to use it.MethodsThe set of echocardiographic data of 115 male Wistar rats with supravalvular aortic stenosis (AoS) was used as an example of model development. Initially, the data were standardized, and became dimensionless. Then, the variance matrix of the set was submitted to principal components analysis (PCA), aiming at reducing the parametric space and at retaining the relevant variability. That technique established a new Cartesian system into which the animals were allocated, and finally the confidence region (ellipsoid) was built for the profile of the animals’ homogeneous responses. The animals located inside the ellipsoid were considered as belonging to the homogeneous batch; those outside the ellipsoid were considered spurious.ResultsThe PCA established eight descriptive axes that represented the accumulated variance of the data set in 88.71%. The allocation of the animals in the new system and the construction of the confidence region revealed six spurious animals as compared to the homogeneous batch of 109 animals.ConclusionThe biometric criterion presented proved to be effective, because it considers the animal as a whole, analyzing jointly all parameters measured, in addition to having a small discard rate.

Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients

Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 - 1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. Other signs are occasional like ocular, skeletal, renal and dental anomalies. Here in, we present 38 WBS Tunisian patients. Methods: All patients underwent a genetic consultation and in order to confirm the clinical diagnosis of WBS, fluorescent in situ hybridization (FISH) was applied on metaphase spreads using the dual color locus specific identifier WBS region probe (Vysis probe) that hybridized to the ELN and LIMK1 loci at 7q11.23 and to control loci D7S486 and D7S522 at 7q31. About 15 to 20 metaphases were analyzed for each case. Results: The mean age at diagnosis was 4 years and 4 months. All patients showed facial dysmorphism. 66% (23/35) have cardiovascular anomaly, peripheral pulmonary stenosis (10/35) is interestingly more frequent than the supravalvular aortic stenosis (7/35). Various degrees of mental retardation were present and a normal intelligence was found in three patients. The unique cognitive profile was found in all patients except one who had autistic disorders. Ocular anomalies (13/38) were less frequent than described, the skeletal anomalies too (12/38). Dental malformations were frequent (22/32). Idiopathic hypercalcemia was present in 50% of children less than one year (2/4). Conclusions: WBS was a rare disorder, cardinal signs (facial dysmorphism, mental retardation and cardiovascular defects) were found in our patients in the same proportions than described. The occasional clinical signs have proportion different of precedent reported like hypercalcemia, ocular and dental anomalies. The identification of the different clinical signs in WBS patients permits to establish a strategy of follow up.

Infantile presentation and rapid progression of coarctation of aorta in a case of Williams syndrome

Williams syndrome is a multisystem disorder caused by the deletion of multiple genes on chromosome 7. Many patients are identified through presence of dysmorphic features and associated cardiac abnormalities. Cardiovascular abnormalities in Williams syndrome is characterized by presence of supravalvular aortic stenosis which is most common followed by pulmonary artery stenosis, mitral valve prolapse, aortic hypoplasia, coarctation of aorta, and septal defects. Usually, these obstructive lesions are mild and do not present in infancy and progress slowly. If severe in infantile age-group, they often require surgery. We are reporting a case of Williams syndrome who presented with heart failure demonstrating supravalvular aortic stenosis (a common feature of Williams syndrome) and rapidly progressive coarctation of aorta with refractory symptoms.

Postcardiotomy mechanical circulatory support in two infants with williams' syndrome.

Supravalvar aortic stenosis (SVAS) in patients with Williams' syndrome is often accompanied by coronary, pulmonary, and even myocardial lesions and therefore associated with increased perioperative morbidity and mortality. Extracorporeal membrane oxygenation (ECMO) provides reliable short-term mechanical circulatory support to patients, especially young, in acute postoperative cardiac failure when conventional means are ineffective. The incorporation of centrifugal pumps in these systems has made their use more efficient and less traumatic. We describe our experience of using the Levitronix CentriMag pump in two patients with Williams' syndrome who underwent surgical correction of supravalvular aortic stenosis.

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Introduction: Williams syndrome, consists of a constellation of signs and symptoms including mental retardation, distinctive emotional and behavioral traits, cranio-facial anomalies and association with difficult airway, growth deficiency, genitourinary manifestations, and supravalvular aortic stenosis.1,2 Literature is rampant with reports of sudden cardiac death under general anesthesia in these patients. 3-5 We describe a patient with William's syndrome, who presented for revision cardiac surgery of a stenosed prosthetic aortic valve and possible aortic root repair. The perioperative challenges required teamwork from the ICU and surgical teams in combination. Case report: A 44 y/o female with a known history of William's syndrome with congenital supravalvular Aortic Stenosis complicated by dissection of subvalvular stenosis who had previously undergone a resection of supraventricular ridge, patch repair of ascending aorta, re-implant of right coronary artery, and aortic valve replacement (St. Jude #17), presented with prosthetic valve re-stenosis. She had the typical 'elfin facies" as described with William's syndrome and was short stature (Ht 142.2 cm (4' 8")). The baseline pre-procedure trans-thoracic echo (TTE) ( Figure 1 a and b) showed a left ventricle with mildly decreased systolic function. EF = 48 ± 5%. Moderate (2+) mitral valve regurgitation (MR) and moderate (2+) aortic valve regurgitation (AR) were seen. Importantly severe aortic valve stenosis with a peak/mean gradient of 137/83mmHg and a dimensionless index (DVI) of 0.09 was evident. Coronaries were normal on left heart catheterization. (Figure 2 a and b) A few hours before surgery she developed increasing shortness of breath with possible pulmonary edema and had to be emergently intubated. She was a known difficult airway (per previous records) and a 7.5mm Parker Tube was passed via a fibreoptic bronchoscope with the patient awake. In the operating room, immediately prior to induction, a brief period of tachycardia led to extreme hemodynamic instability. The pre-procedure 2+ MR increased to a wide-open ischemic 4+ MR. LV dysfunction and poor LV wall motion was also evident on the pre-bypass echo. (Figure 3 a and b). She was emergently put on cardio-pulmonary bypass. Intraoperatively, a Mitral valve repair with a Duran band #27, AV repair Duran Ancore annuloplasty band #27, Aortic root replacement with a 21-mm aortic homograft were successfully performed. Post-pump echocardiography demonstrated a well-seated aortic homograft without regurgitation and no residual mitral regurgitation. Maximum velocity in the aortic valve was148.0 cm/s. The aortic valve peak/mean gradient was 9/4mmHg. (Figure 4 a and b). The patient was transported to the ICU with an open-sternal wound. Some evidence of biventricular dysfunction persisted for the next 12 hours. However, she showed an excellent response to resuscitation and the vasopressor support was gradually weaned off in the next 48 hours at which stage she was taken back to the operating room for a chest closure, that she tolerated well. She was subsequently discharged to the step down and back home within the next ten days. At discharge she was back to her neurological baseline status and was doing well from a cardiovascular standpoint. Discussion: The hemodynamic instability due to severe aortic valve disease complicated by the ischemic mitral regurgitation, the difficult airway as a part of the syndrome and the emergent nature of the cardio-pulmonary bypass with the need for aggressive post-bypass resuscitation were a combined challenge for the cardiothoracic anesthesiology, critical care and surgical teams of our institute. William's patients with corrected supravalvular disease, presenting for redo surgery remains a perioperative challenge as intense as those presenting for first time surgery.

Outcome of Surgical Correction of Congenital Supravalvular Aortic Stenosis With Two- and Three-Sinus Reconstruction Techniques

Several surgical techniques for the treatment of congenital supravalvular aortic stenosis have been developed, yet there is no consensus about the optimal approach. We reviewed our institutional experience with 2- and 3-sinus reconstruction techniques. Thirty-eight patients operated on for supravalvular aortic stenosis between 1987 and 2012 in our institution were analyzed retrospectively. Eight patients (21%) were infants and in 5 (13.2%) diffuse stenosis was present. Mean peak pressure gradient was 86.1±28.7 mm Hg preoperatively. Surgical procedures included single-patch enlargement (McGoon, n=3), inverted bifurcated-patch aortoplasty (Doty, n=22), 3-sinus patch augmentation (Brom, n=8), and autologous slide aortoplasty (n=5). Major concomitant procedures were performed in 10 patients (26.3%). Early mortality was 2.6%. Follow-up continued for a median of 7.5 years (range 3 weeks to 22 years). Overall survival estimates were 94% and 90% and overall freedom from reoperation was 83% at 5 and 20 years, respectively. No differences were found between surgical techniques in respect to survival, clinical course, hemodynamic outcome, or freedom from reoperation rates. A significantly worse outcome in regard to survival and reoperation rates was observed in infants. Our study demonstrates equally good results for the repair of supravalvular aortic stenosis with both 2- and 3-sinus reconstruction. No evidence of a superior outcome for 3-sinus reconstruction techniques was found. Operation in infancy is an important factor associated with unfavorable outcome.

Williams sendromlu hastaların kardiyak patolojileri ve klinik izlemi

Between August 2008 and August 2011, nine patients (3 girls, 6 boys; mean age 19±29 months) were admitted to our clinic with Williams syndrome. The mean body weight of the patients was 9454±5880 g. Two patients had supravalvular aortic stenosis (sAS), one had periferal pulmonary stenosis (PPS), one had supravalvular PS (sPS), two had sAS and sPS, and three had sAS and bilateral PPS. Two patients were not operated. Four patients were operated for sAS and PPS, one patient for sAS, valvular and sPS, one patient for PPS and sPS, and one patient for sAS operation. The gradients were decreased and remained unchanged during follow-up.

Spastic Achalasia and Detrusor Spasm: Combined Visceral Neuromuscular Disorders in a Patient with Williamʼs Syndrome

Introduction: William's syndrome is a rare congenital disorder caused by deletions at chromosomal band 7q11.23. The condition is characterized by distinctive facies, gregarious personality, developmental delay and supravalvular aortic stenosis. Spastic motility disorders and diverticulosis of the bladder are often seen. Abdominal pain, constipation, gastroesophageal reflux and colonic diverticulosis are gastrointestinal manifestations of William's Syndrome. However, spastic motility disorders of the esophagus have not previously been described. Case Description: The patient is a 37-year-old male with William's syndrome. He exhibited neonatal failure to thrive, without the typical swallowing difficulties expected in infants with William's syndrome. Bedwetting was reported until the age of four years old and was corrected by training with an enuresis alarm. At age 25, the patient developed a poor urinary stream, straining, and incomplete bladder evacuation. A urodynamic study showed detrusor spasm. A suprapubic catheter was placed at age 27. When the patient was 33 years old, he was evaluated for severe abdominal pain and mild dysphagia. Abdominal examination was unremarkable. A computed tomography (CT) scan of the abdomen revealed dilation of the esophagus above the esophageal hiatus. An upper endoscopy showed esophageal diverticula. This was confirmed by an esophagram displaying a large epiphrenic esophageal diverticulum (4-5 cm in diameter) and a second more proximal diverticulum (2-3 cm in diameter). The patient began to experience worsening dysphagia and weight loss (from 120 pounds to 100 pounds), and vomiting after eating. An esophageal manometry performed at a tertiary care center showed a large transition zone defect in the mid-esophagus and very rapidly conducted distal contractions. Retrograde escape occurred with about 50% of the esophageal contractions. These findings are consistent with the manometric diagnosis of spastic achalasia. Botulinum toxin A (Botox) injection or esophageal myomectomy were recommended but declined by the patient and his family. A pureed diet was initiated with subsequent weight gain and marked improvement of dysphagia. Discussion: Detrusor spasm and diverticulosis of the bladder are frequently described in patients with William's syndrome. To our knowledge, spastic achalasia (a very rare esophageal motility disorder) and esophageal diverticula are new findings in this condition. We propose that esophageal and bladder motility disorders are part of an overall visceral neuromuscular defect related to the pathophysiology of William's syndrome. Physicians should recognize the potential for esophageal motility disorders in patients with William's syndrome.

An atypical 7Q11.2-Q21.11 deletion in a Williams-Beuren syndome patient

Results The proband, a female neonate, is the first child of healthy nonconsanguineous Chinese parents. She was born by uterine-incision delivery with intrauterine distress after 41 weeks of gestation. Her birth weight was 2.4 kg. She showed an distinctive facies including broad brow, periorbital fullness, epicanthal folds, short nose, long philtrum, small jaw and prominent earlobes. The cardiology ultrasound examination showed open foramen ovale without elastin arteriopathy such as supravalvular aortic stenosis, pulmonic stenosis. Her abdominal ultrasound examination showed right Duplicated kidneys. Her Karyotyping was 46, XX, del(7)(q11.1q11.23). We then performed array CGH for this patient and confirmed the deletion region of 21Mb from 7q11.2 to 7q21.11.

Intervention and Management of Congenital Left Heart Obstructive Lesions

While congenital heart defects are typically diagnosed in early childhood, depending on the severity of the lesion, they may not be recognized until later childhood or in adulthood. Left heart pressure loading lesions, including mitral valve stenosis, subaortic stenosis, valvular aortic stenosis, supravalvular aortic stenosis, and coarctation of the aorta, may be found as an isolated lesion or as a constellation together known as Shone syndrome. This review will highlight the literature published regarding the diagnosis, intervention, and long-term management of left heart pressure loading lesions.

Repair of congenital supravalvular aortic stenosis in an adult patient

Supravalvular aortic stenosis (SVAS) is an unusual form of obstructive lesions of left ventricular outflow tract (LVOT) located above the aortic valve. A 45-year-old male case who was admitted with a complaint of dyspnea was diagnosed of SVAS, leading to significant gradient and luminal narrowing. The case was treated successfully through twosinus reconstruction and ascending aorta replacement. We conclude that the graft replacement of aorta in such cases would be a safe and an effective procedure.

Assessment of Intellectual and Visuo-Spatial Abilities in Children and Adults with Williams Syndrome

The Williams-Beuren syndrome (SWB), also known as Williams syndrome, is a contiguous gene deletion of the region 7q.11.23. The main clinical characteristics are typical faces, supravalvular aortic stenosis, failure to thrive, short stature, transient neonatal hypercalcemia, delayed language, friendly personality, hyperacusis and intellectual disability. The diagnosis of SWB is confirmed by the detection of micro deletion by different techniques of molecular cytogenetics, FISH, MLPA or polymorphic markers. This study assessed the verbal intelligence quotient (IQ) and performance and visuospatial skills in children and adults with WBS. The composed group was of 31 WBS patients (19 M and 12 F), whose ages ranged from 9 to 26 years (M 14.45 y). All patients had the diagnosis confirmed molecularly. The tests used were the WISC-III, WAIS-III and Rey-Osterrieth Complex Figure Test. The results indicated a total IQ ranged from 51 to 86 (M 63): 22 with mild intellectual disability, 4 with moderate intellectual disability, 4 borderlines and 1 below the normal media. All patients had marked visual-spatial deficits. The results suggest nonverbal reasoning, visuo-spatial perception, spatial representation, working memory, motor planning and executive functions are very affected in this group.

Outcomes After Primary Transcatheter Therapy in Infants and Young Children With Severe Bilateral Peripheral Pulmonary Artery Stenosis

Angioplasty and stent implantation have become accepted therapies for isolated peripheral pulmonary stenosis, and have been shown to increase vessel diameter and reduce right ventricular (RV) pressure acutely in patients with pulmonary artery (PA) stenosis. The purpose of this study was to assess long-term outcomes after primary transcatheter therapy for peripheral pulmonary stenosis. We studied 69 patients who underwent primary transcatheter intervention for severe isolated peripheral pulmonary stenosis at ≤ 5 years of age. Genetic/syndromic diagnoses included Williams syndrome (n=23), non-Williams familial arteriopathy (n=12), and Alagille syndrome (n=3). At the initial PA intervention, median RV:aortic pressure ratio decreased from 1.00 to 0.88 (median decrease, 0.18; P<0.001). Patients with a higher preintervention RV:aortic pressure ratio had a greater reduction (P<0.001). During follow-up (median, 8.5 years), 10 patients died, 5 from complications of PA catheterization (all before 1998). Thirteen patients underwent surgical PA intervention, most within 1 year and along with repair of supravalvar aortic stenosis. Freedom from any PA reintervention was 38 ± 6% at 1 year and 22 ± 6% at 5 years. The median RV:aortic pressure ratio decreased from 1.0 at baseline to 0.53 at the most recent catheterization (P<0.001), and 82% of patients with available clinical follow-up were asymptomatic. Transcatheter therapy for infants with severe peripheral pulmonary stenosis has become safer, regardless of genetic condition. Coupled with reintervention and surgical relief in selected cases, RV:aortic pressure ratios decrease substantially and most patients are asymptomatic at late follow-up.