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2.
Am J Cardiol ; 164: 118-122, 2022 02 01.
Article in English | MEDLINE | ID: mdl-34815057

ABSTRACT

Supravalvar aortic stenosis (SVAS) severity guides management, including decisions for surgery. Physiologic and technical factors limit the determination of SVAS severity by Doppler echocardiography and cardiac catheterization in Williams syndrome (WS). We hypothesized SVAS severity could be determined by the sinotubular junction-to-aortic annulus ratio (STJ:An). We reviewed all preintervention echocardiograms in patients with WS with SVAS cared for at our center. We measured STJ, An, peak and mean Doppler gradients, and calculated STJ:An. We created 2 mean gradient prediction models. Model 1 used the simplified Bernoulli's equation, and model 2 used computational fluid dynamics (CFD). We compared STJ:An to Doppler-derived and CFD gradients. We reviewed catheterization gradients and the waveforms and analyzed gradient variability. We analyzed 168 echocardiograms in 54 children (58% male, median age at scan 1.2 years, interquartile range [IQR] 0.5 to 3.6, median echocardiograms 2, IQR 1 to 4). Median SVAS peak Doppler gradient was 24 mm Hg (IQR 14 to 46.5). Median SVAS mean Doppler gradient was 11 mm Hg (IQR 6 to 21). Median STJ:An was 0.76 (IQR 0.63 to 0.84). Model 1 underpredicted clinical gradients. Model 2 correlated well with STJ:An through all severity ranges and demonstrated increased pressure recovery distance with decreased STJ:An. The median potential variability in catheterization-derived gradients in a given patient was 14.5 mm Hg (IQR 7.5 to 19.3). SVAS severity in WS can be accurately assessed using STJ:An. CFD predicts clinical data well through all SVAS severity levels. STJ:An is independent of physiologic state and has fewer technical limitations than Doppler echocardiography and catheterization. STJ:An could augment traditional methods in guiding surgical management decisions.


Subject(s)
Aorta/diagnostic imaging , Aortic Stenosis, Supravalvular/diagnostic imaging , Aortic Valve/diagnostic imaging , Sinus of Valsalva/diagnostic imaging , Aorta/anatomy & histology , Aortic Stenosis, Supravalvular/congenital , Aortic Stenosis, Supravalvular/etiology , Aortic Stenosis, Supravalvular/physiopathology , Aortic Valve/anatomy & histology , Child, Preschool , Echocardiography , Echocardiography, Doppler , Female , Humans , Infant , Male , Severity of Illness Index , Sinus of Valsalva/anatomy & histology , Williams Syndrome/complications
3.
Eur J Cardiothorac Surg ; 58(1): 196-198, 2020 07 01.
Article in English | MEDLINE | ID: mdl-31860063

ABSTRACT

We present a case of a 42-year-old male patient with severe supravalvular aortic stenosis associated with aortic and mitral valve stenosis as well as an anomalous origin of the right coronary ostium caused by deletion in the q11.23 region of the human chromosome 7 in a patient with Williams-Beuren syndrome.


Subject(s)
Aortic Stenosis, Supravalvular , Cardiovascular Abnormalities , Williams Syndrome , Adult , Aortic Stenosis, Supravalvular/diagnostic imaging , Aortic Stenosis, Supravalvular/etiology , Aortic Stenosis, Supravalvular/surgery , Humans , Male
4.
Indian Heart J ; 70(4): 575-577, 2018.
Article in English | MEDLINE | ID: mdl-30170656

ABSTRACT

Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death. The symptoms are more severe in the homozygous type of the disease. Premature malignant atherogenesis leading to aortic root abnormalities causing supravalvular aortic stenosis is rare. Our case demonstrates the diagnostic imaging findings of the phenotype of patients who have severe elevated LDL with familial hypercolesterolemia.


Subject(s)
Aortic Stenosis, Supravalvular/etiology , Atherosclerosis/etiology , Hyperlipoproteinemia Type II/complications , Adult , Aortic Stenosis, Supravalvular/diagnosis , Atherosclerosis/diagnosis , Cholesterol, LDL/blood , Coronary Angiography , Echocardiography, Doppler, Color , Female , Humans , Hyperlipoproteinemia Type II/blood , Hyperlipoproteinemia Type II/diagnosis , Phenotype , Tomography, X-Ray Computed
5.
Curr Opin Pediatr ; 30(5): 609-615, 2018 10.
Article in English | MEDLINE | ID: mdl-30045083

ABSTRACT

PURPOSE OF REVIEW: Williams syndrome is a multisystem disorder seen with some regularity at most pediatric centers and usually fairly often at larger centers. Cardiovascular abnormalities, because of elastin deficiency, are the leading cause of morbidity and mortality in patients with Williams syndrome. The present article presents a review of the most recent developments regarding the cardiovascular issues in Williams syndrome. RECENT FINDINGS: Cardiovascular abnormalities occur in 80% of patients with Williams syndrome, the majority of which are arterial stenoses. The stenoses seen in Williams syndrome now appear to arise from deficient circumferential arterial growth. Pharmacological therapies aimed at improving the vascular stenoses have shown some promise in animal models. Surgical outcomes for supravalvar aortic stenosis are good at most centers. Transcatheter interventions are largely ineffective in Williams syndrome. Multilevel surgical pulmonary artery reconstruction has excellent results for peripheral pulmonary artery stenosis. Periprocedural risk stratification and management algorithms may decrease the risk of cardiovascular complications. SUMMARY: Cardiovascular abnormalities are a major determining factor in the clinical picture and trajectory of patients with Williams syndrome. Advances in surgical techniques, medical therapeutic options, and periprocedural management hold promise for significant improvements in the cardiovascular outcomes of these patients.


Subject(s)
Aortic Stenosis, Supravalvular/physiopathology , Ventricular Outflow Obstruction/physiopathology , Williams Syndrome/physiopathology , Aortic Stenosis, Supravalvular/etiology , Aortic Stenosis, Supravalvular/genetics , Contraindications , Humans , Risk Assessment , Tomography, X-Ray Computed , Ventricular Outflow Obstruction/etiology , Ventricular Outflow Obstruction/genetics , Williams Syndrome/complications , Williams Syndrome/diagnostic imaging , Williams Syndrome/genetics
7.
Ann Thorac Surg ; 105(4): e171-e174, 2018 04.
Article in English | MEDLINE | ID: mdl-29571349

ABSTRACT

Homozygous familial hypercholesterolemia is a rare autosomal dominant disorder caused by gene mutations of the low-density lipoprotein receptor, generally characterized by three major signs-hyper low-density lipoprotein cholesterolemia, tendon/skin xanthomas, and premature atherosclerosis disease-beginning in childhood and including supravalvular aortic stenosis. To the best of our knowledge, only a few successful surgical cases for supravalvular aortic stenosis in these patients have been reported. We report two cases of homozygous familial hypercholesterolemia with severe supravalvular aortic stenosis and coronary artery disease associated with very small aortic root, managed by aortic root replacement concomitant with coronary artery bypass graft surgery, which resulted in excellent postoperative outcomes.


Subject(s)
Aortic Stenosis, Supravalvular/surgery , Hyperlipoproteinemia Type II/complications , Adult , Aortic Stenosis, Supravalvular/diagnosis , Aortic Stenosis, Supravalvular/etiology , Female , Humans , Hyperlipoproteinemia Type II/diagnostic imaging , Hyperlipoproteinemia Type II/pathology , Male
8.
PLoS One ; 13(3): e0193553, 2018.
Article in English | MEDLINE | ID: mdl-29494668

ABSTRACT

Pathological cardiac hypertrophy leads to derangements in lipid metabolism that may contribute to the development of cardiac dysfunction. Since previous studies, using high saturated fat diets, have yielded inconclusive results, we investigated whether provision of a high-unsaturated fatty acid (HUFA) diet was sufficient to restore impaired lipid metabolism and normalize diastolic dysfunction in the pathologically hypertrophied heart. Male, Wistar rats were subjected to supra-valvar aortic stenosis (SVAS) or sham surgery. After 6 weeks, diastolic dysfunction and pathological hypertrophy was confirmed and both sham and SVAS rats were treated with either normolipidic or HUFA diet. At 18 weeks post-surgery, the HUFA diet failed to normalize decreased E/A ratios or attenuate measures of cardiac hypertrophy in SVAS animals. Enzymatic activity assays and gene expression analysis showed that both normolipidic and HUFA-fed hypertrophied hearts had similar increases in glycolytic enzyme activity and down-regulation of fatty acid oxidation genes. Mass spectrometry analysis revealed depletion of unsaturated fatty acids, primarily linoleate and oleate, within the endogenous lipid pools of normolipidic SVAS hearts. The HUFA diet did not restore linoleate or oleate in the cardiac lipid pools, but did maintain body weight and adipose mass in SVAS animals. Overall, these results suggest that, in addition to decreased fatty acid oxidation, aberrant unsaturated fatty acid metabolism may be a maladaptive signature of the pathologically hypertrophied heart. The HUFA diet is insufficient to reverse metabolic remodeling, diastolic dysfunction, or pathologically hypertrophy, possibly do to preferentially partitioning of unsaturated fatty acids to adipose tissue.


Subject(s)
Aortic Stenosis, Supravalvular/diet therapy , Cardiomegaly/diet therapy , Dietary Fats, Unsaturated/administration & dosage , Lipid Metabolism/drug effects , Animals , Aortic Stenosis, Supravalvular/blood , Aortic Stenosis, Supravalvular/etiology , Cardiomegaly/blood , Cardiomegaly/etiology , Dietary Fats, Unsaturated/pharmacology , Disease Models, Animal , Fatty Acids, Unsaturated/analysis , Gene Expression Regulation/drug effects , Male , Mass Spectrometry , Random Allocation , Rats , Rats, Wistar , Treatment Outcome
9.
Ann Thorac Surg ; 105(6): e243-e245, 2018 06.
Article in English | MEDLINE | ID: mdl-29428837

ABSTRACT

A 78-year-old man with remote type-A dissection presented with acute-onset dyspnea. Twenty-two years prior, treatment for his aortic disease required replacement of ascending and arch aneurysms with a polyester graft (Dacron) using the graft inclusion technique. He presented currently in cardiogenic shock. Echocardiography demonstrated new severe hypokinesis of all apical segments. Left-heart catheterization revealed a 120 mm Hg intragraft gradient. Computed tomography arteriography was unrevealing, but intraaortic ultrasound demonstrated critical intragraft stenosis. A balloon expandable stent (Palmaz stent, Cordis, Milpitas, CA) was deployed in the stenotic region with gradient resolution. The patient later underwent aortic root replacement and ascending aneurysm repair (Bio-Bentall technique) and is doing well at 24 months.


Subject(s)
Aortic Stenosis, Supravalvular/surgery , Aortic Valve/surgery , Heart Valve Prosthesis , Postoperative Complications/surgery , Prosthesis Failure , Stents , Acute Disease , Aged , Aortic Stenosis, Supravalvular/etiology , Humans , Male , Postoperative Complications/etiology
10.
Rev Esp Anestesiol Reanim (Engl Ed) ; 65(4): 234-237, 2018 Apr.
Article in English, Spanish | MEDLINE | ID: mdl-29246395

ABSTRACT

Williams-Beuren syndrome is the clinical manifestation of a congenital genetic disorder in the elastin gene, among others. There is a history of cardiac arrest refractory to resuscitation manoeuvres in anaesthesia. The incidence of myocardial ischaemia is high during anaesthetic induction, but there are patients who do not have this condition yet also have had very serious cardiac events, and issues that are still to be resolved. Case descriptions will enable the common pathophysiological factors to be defined, and decrease morbidity and mortality. We report the case of a 3-year-old boy with cardiac arrest at induction, rescued with circulatory assistance with extracorporeal membrane oxygenation and hypothermia induced for cerebral protection.


Subject(s)
Anesthesia, Inhalation/adverse effects , Anesthetics, Inhalation/adverse effects , Heart Arrest/chemically induced , Intraoperative Complications/chemically induced , Sevoflurane/adverse effects , Williams Syndrome/complications , Aortic Stenosis, Supravalvular/etiology , Aortic Stenosis, Supravalvular/surgery , Arteries/pathology , Bradycardia/etiology , Child, Preschool , Combined Modality Therapy , Disease Susceptibility , Extracorporeal Membrane Oxygenation , Heart Arrest/etiology , Heart Arrest/physiopathology , Heart Valves/pathology , Humans , Hypothermia, Induced , Hypoxia-Ischemia, Brain/etiology , Hypoxia-Ischemia, Brain/prevention & control , Intraoperative Complications/etiology , Male , Muscle Hypotonia/etiology , Paresis/etiology , Postoperative Complications/etiology , Williams Syndrome/pathology
11.
Asian Cardiovasc Thorac Ann ; 24(6): 578-80, 2016 Jul.
Article in English | MEDLINE | ID: mdl-25957091

ABSTRACT

Supravalvular aortic stenosis as a late complication of transposition of the great arteries is very rare, and only a few cases have been reported. We describe the case of a 14-year-old girl who developed supravalvular aortic stenosis as a late complication of the arterial switch operation for transposition of the great arteries. The narrowed ascending aorta was replaced with a graft. The right pulmonary artery was transected to approach the ascending aorta which adhered severely to the main pulmonary trunk, and we obtained a good operative field.


Subject(s)
Aortic Stenosis, Supravalvular/etiology , Arterial Switch Operation/adverse effects , Transposition of Great Vessels/surgery , Adolescent , Aorta/diagnostic imaging , Aorta/surgery , Aortic Stenosis, Supravalvular/diagnostic imaging , Aortic Stenosis, Supravalvular/surgery , Aortography/methods , Blood Vessel Prosthesis Implantation , Computed Tomography Angiography , Female , Humans , Pulmonary Artery/diagnostic imaging , Pulmonary Artery/surgery , Reoperation , Tissue Adhesions , Treatment Outcome
12.
Ann Thorac Surg ; 99(5): 1806-7, 2015 May.
Article in English | MEDLINE | ID: mdl-25952214

ABSTRACT

Williams-Beuren syndrome is characterized by diffuse arteriopathy due to elastin gene deficiency. We present a patient with de novo supravalvular stenosis due to excessive intimal hyperplasia after a previous repair. This case report supports in vitro and animal studies that have linked elastin deficiency to increased cellular proliferation in the vessel wall with the subsequent development of obstructive lesions.


Subject(s)
Aortic Stenosis, Supravalvular/etiology , Williams Syndrome/surgery , Aortic Stenosis, Supravalvular/diagnosis , Aortic Stenosis, Supravalvular/surgery , Child, Preschool , Humans , Male , Recurrence , Williams Syndrome/complications , Williams Syndrome/diagnosis
13.
Arch Cardiol Mex ; 85(4): 292-5, 2015.
Article in English | MEDLINE | ID: mdl-25882107

ABSTRACT

The Williams-Beuren syndrome is a rare genetic disease characterized by: (a) typical facial features; (b) psychomotor retardation with a specific neurocognitive profile; (c) cardiovascular condition and (d) likely transient hypocalcemia in infancy. The objective of this study was to describe the clinic evolution and diagnosis of patient with this syndrome that was associated with endocarditis caused by Streptococcus parasanguis in the ascending aorta and an aneurism located in the fronto-temporal area, which produced a parenchymal hematoma in the left lobe, and subarachnoid hemorrhage. He was treated with ceftriaxone and dicloxacillin. Then we proceeded to correct the aneurysm and perform vegetation resection in aortic arteries with supravalvular aortic stenosis correction. The evolution after one year has been favorable and is currently without neurologic sequelae. A 5-year-old male patient presented a diagnosis of supravalvular aortic stenosis. After cardiac catheterization was performed, he presented a fever and right side paresis. The echocardiogram showed multiple vegetations in the ascendant aortic arch and the supraortic arteries. The blood cultures reported S. parasanguis. The magnetic resonance showed a subarachnoid hemorrhage with an aneurysm and a hematoma.


Subject(s)
Aortic Stenosis, Supravalvular/etiology , Cerebrovascular Disorders/complications , Endocarditis, Bacterial/complications , Streptococcal Infections/complications , Williams Syndrome/complications , Child, Preschool , Humans , Male
15.
Cardiol Young ; 24(1): 152-4, 2014 Feb.
Article in English | MEDLINE | ID: mdl-23394113

ABSTRACT

Williams syndrome is caused by a gene deletion of chromosome 7. A majority of the cases are sporadic with typical facial appearance, cardiac anomalies, and mental retardation. We report a rare case of Williams syndrome associated with supravalvular aortic stenosis, subvalvular aortic membrane, mitral regurgitation, aortic coarctation, and patent ductus arteriosus. The patient had undergone a single-stage surgical repair with satisfactory results at 5 months of follow-up.


Subject(s)
Aortic Coarctation/surgery , Aortic Stenosis, Supravalvular/surgery , Ductus Arteriosus, Patent/surgery , Mitral Valve Insufficiency/surgery , Williams Syndrome/surgery , Anastomosis, Surgical , Aortic Coarctation/complications , Aortic Coarctation/diagnostic imaging , Aortic Stenosis, Supravalvular/diagnostic imaging , Aortic Stenosis, Supravalvular/etiology , Chordae Tendineae/surgery , Ductus Arteriosus, Patent/complications , Ductus Arteriosus, Patent/diagnostic imaging , Humans , Infant , Ligation , Mitral Valve Insufficiency/complications , Tomography, X-Ray Computed , Treatment Outcome , Williams Syndrome/complications , Williams Syndrome/diagnostic imaging
19.
Heart Lung Circ ; 22(11): 966-7, 2013 Nov.
Article in English | MEDLINE | ID: mdl-23548334

ABSTRACT

Loeffler's endocarditis is a complication of diseases associated with the idiopathic hypereosinophilic syndrome, which is characterised by persistently elevated blood eosinophil counts with symptoms and signs of organ involvement especially in the heart, vascular system, nervous system and bone marrow. We report the involvements of the endocardium and aorta, without endomyocardial fibrosis and the complete resolution of the endocardial eosinophilic infiltration with steroids and anticoagulation therapy.


Subject(s)
Aorta, Abdominal/pathology , Aortic Stenosis, Supravalvular , Hypereosinophilic Syndrome , Aortic Stenosis, Supravalvular/drug therapy , Aortic Stenosis, Supravalvular/etiology , Aortic Stenosis, Supravalvular/pathology , Humans , Hypereosinophilic Syndrome/complications , Hypereosinophilic Syndrome/drug therapy , Hypereosinophilic Syndrome/pathology , Male , Middle Aged
20.
Circ Cardiovasc Genet ; 5(6): 692-6, 2012 Dec.
Article in English | MEDLINE | ID: mdl-23250899

ABSTRACT

Supravalvular aortic stenosis is a systemic elastin (ELN) arteriopathy that disproportionately affects the supravalvular aorta. ELN arteriopathy may be present in a nonsyndromic condition or in syndromic conditions such as Williams-Beuren syndrome. The anatomic findings include congenital narrowing of the lumen of the aorta and other arteries, such as branches of pulmonary or coronary arteries. Given the systemic nature of the disease, accurate evaluation is recommended to establish the degree and extent of vascular involvement and to plan appropriate interventions, which are indicated whenever hemodynamically significant stenoses occur. ELN arteriopathy is genetically heterogeneous and occurs as a consequence of haploinsufficiency of the ELN gene on chromosome 7q11.23, owing to either microdeletion of the entire chromosomal region or ELN point mutations. Interestingly, there is a prevalence of premature termination mutations resulting in null alleles among ELN point mutations. The identification of the genetic defect in patients with supravalvular aortic stenosis is essential for a definitive diagnosis, prognosis, and genetic counseling.


Subject(s)
Aorta/pathology , Aortic Stenosis, Supravalvular/pathology , Elastin/metabolism , Aorta/diagnostic imaging , Aortic Stenosis, Supravalvular/diagnosis , Aortic Stenosis, Supravalvular/diagnostic imaging , Aortic Stenosis, Supravalvular/etiology , Diagnosis, Differential , Elastin/genetics , Humans , Syndrome , Ultrasonography
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