ABSTRACT
Although the clinical manifestations of membranous supravalvular aortic stenosis (SVAS) are distinctive, its diagnosis remains challenging. Failure to initiate surgical treatment in a timely manner greatly increases the risk of sudden cardiac death. We report a case of membranous SVAS, detailing the clinical presentation and imaging manifestations.
Subject(s)
Aortic Stenosis, Supravalvular , Aortic Valve Insufficiency , Aortic Valve Stenosis , Humans , Aortic Stenosis, Supravalvular/complications , Aortic Stenosis, Supravalvular/diagnostic imaging , Aortic Stenosis, Supravalvular/surgery , Aortic Valve Insufficiency/complications , Aortic Valve Insufficiency/diagnostic imaging , Aortic Valve Insufficiency/surgeryABSTRACT
Coronary artery stenosis (CAS) may affect up to 27% of patients with Williams syndrome (WS), which may lead to myocardial ischemia. Patients with WS face a 25- to 100-fold greater risk of sudden cardiac death, frequently linked to anesthesia. Assessing CAS requires either imaging while under general anesthesia or intraoperative assessment, with the latter considered the gold standard. Our study aimed to identify electrocardiogram (ECG) markers of myocardial ischemia in patients with WS or nonsyndromic elastin arteriopathy and documented CAS. We retrospectively reviewed patients with WS/elastin arteriopathy who underwent supravalvar aortic stenosis surgery and CAS assessment from January 1, 2006 to April 30, 2021. A pediatric electrophysiologist, not aware of the patients' CAS status, reviewed their preoperative ECGs for markers of ischemia. We assessed associations of study parameters using Wilcoxon rank-sum and Fisher's exact tests. Of 34 patients, 62% were male, with a median age of 20 months (interquartile range: 8 to 34). CAS was present in 62% (21 of 34), 76% of whom (16 of 21) were male. There were no ECG indicators of myocardial ischemia in patients with CAS. In conclusion, CAS was present in >1/2 the children with WS/elastin arteriopathy who underwent repair of supravalvar aortic stenosis. CAS in WS/nonsyndromic elastin arteriopathy does not appear to exhibit typical ECG-detectable myocardial ischemia. ECGs are not a useful screening tool for CAS in WS/elastin arteriopathy. Given the high anesthesia-related cardiac arrest risk, other noninvasive indicators of CAS are needed.
Subject(s)
Aortic Stenosis, Supravalvular , Coronary Artery Disease , Coronary Stenosis , Myocardial Ischemia , Vascular Diseases , Williams Syndrome , Humans , Male , Child , Infant , Female , Williams Syndrome/complications , Williams Syndrome/diagnosis , Aortic Stenosis, Supravalvular/complications , Aortic Stenosis, Supravalvular/diagnosis , Retrospective Studies , Myocardial Ischemia/diagnosis , Coronary Stenosis/diagnosis , Elastin , ElectrocardiographyABSTRACT
Williams syndrome (WS), is a multisystem disorder occurring in 1 in 10,000 live births with supravalvular aortic stenosis (SVAS) being the most common cardiovascular manifestation. We present the case of a 2.5 years old male, a known case of WS who presented with cognitive delay, a history of right-sided stroke and left hemiplegia. Echocardiography revealed severe SVAS with a gradient of 105 mmHg. The diameter of the Sino tubular junction was 4 mm. Computerized tomography angiogram showed diffuse stenosis of ascending aorta with intraluminal thrombus. At surgery, the ascending aorta was augmented with autologous pericardial patches and end-to-end anastomosis of the proximal and distal aorta completed the reconstruction. The patient was discharged in a stable condition. He presented 6 weeks post-op with a pulsating pseudoaneurysm through the sternal wound. Emergency surgery with the removal of fungal vegetation and reconstruction of the ascending aorta was performed. He expired due to fungal sepsis a week later.
Subject(s)
Aortic Stenosis, Supravalvular , Aortitis , Williams Syndrome , Male , Humans , Child , Child, Preschool , Aortic Stenosis, Supravalvular/complications , Aortic Stenosis, Supravalvular/diagnostic imaging , Aortic Stenosis, Supravalvular/surgery , Williams Syndrome/complications , Williams Syndrome/surgery , Aorta , EchocardiographyABSTRACT
Williams-Beuren syndrome (WBS) is a rare disorder caused by a recurrent microdeletion with hallmarks of cardiovascular manifestations, mainly supra-valvular aortic stenosis (SVAS). Unfortunately, there is currently no efficient treatment. We investigated the effect of chronic oral treatment with curcumin and verapamil on the cardiovascular phenotype of a murine model of WBS harbouring a similar deletion, CD (complete deletion) mice. We analysed systolic blood pressure in vivo and the histopathology of the ascending aorta and the left ventricular myocardium to determine the effects of treatments and their underlying mechanism. Molecular analysis showed significantly upregulated xanthine oxidoreductase (XOR) expression in the aorta and left ventricular myocardium of CD mice. This overexpression is concomitant with increased levels of nitrated proteins as a result of byproduct-mediated oxidative stress damage, indicating that XOR-generated oxidative stress impacts the pathophysiology of cardiovascular manifestations in WBS. Only the combined therapy of curcumin and verapamil resulted in a significant improvement of cardiovascular parameters via activation of the nuclear factor erythroid 2 (NRF2) and reduction of XOR and nitrated protein levels. Our data suggested that the inhibition of XOR and oxidative stress damage could help prevent the severe cardiovascular injuries of this disorder.
Subject(s)
Aortic Stenosis, Supravalvular , Curcumin , Williams Syndrome , Mice , Animals , Williams Syndrome/genetics , Verapamil , Disease Models, Animal , Aortic Stenosis, Supravalvular/complications , Aortic Stenosis, Supravalvular/pathologyABSTRACT
Supravalvar aortic stenosis (SVAS) is a less common but clinically important form of left ventricular outflow tract obstruction, and commonly associated with Williams syndrome (WS). SVAS outside of WS may also occur sporadically or in a familial form, often with identifiable mutations in the elastin (ELN) gene. While risk of sudden cardiac death in patients with SVAS has been extensively described in the context of WS, less is known about risk in patients with isolated SVAS. We report a case of a nonsyndromic two-year-old boy with evolving manifestations of SVAS who developed sudden cardiac arrest and death during a sedated cardiac magnetic resonance imaging study. A strong family history of SVAS was present and targeted genetic testing identified an ELN gene mutation in the boy's affected father and other paternal relatives. We review risk factors found in the literature for SCA in SVAS patients and utilize this case to raise awareness of the risk of cardiac events in these individuals even in the absence of WS or severe disease. This case also underscores the importance of genetic testing, including targeted panels specifically looking for ELN gene mutations, in all patients with SVAS even in the absence of phenotypic concerns for WS or other genetic syndromes.
Subject(s)
Aortic Stenosis, Supravalvular , Williams Syndrome , Male , Humans , Child , Child, Preschool , Aortic Stenosis, Supravalvular/diagnostic imaging , Aortic Stenosis, Supravalvular/genetics , Aortic Stenosis, Supravalvular/complications , Elastin/genetics , Mutation , Williams Syndrome/complications , Williams Syndrome/genetics , Death, Sudden, Cardiac/etiology , Magnetic Resonance SpectroscopyABSTRACT
Cardiovascular involvement in COVID-19 has different features. Here we report the ominous fate of a neglected adolescent with Williams syndrome that was infected by SARS-CoV-2 and ended by acute aortic dissection.
Subject(s)
Aortic Aneurysm/physiopathology , Aortic Dissection/physiopathology , Aortitis/physiopathology , COVID-19/physiopathology , Systemic Inflammatory Response Syndrome/physiopathology , Adolescent , Aortic Dissection/etiology , Aortic Dissection/pathology , Anti-Bacterial Agents/therapeutic use , Antiviral Agents/therapeutic use , Aortic Aneurysm/etiology , Aortic Aneurysm/pathology , Aortic Stenosis, Supravalvular/complications , Aortitis/etiology , Aortitis/pathology , Azithromycin/therapeutic use , COVID-19/complications , Drug Combinations , Enzyme Inhibitors/therapeutic use , Fatal Outcome , Glucocorticoids/therapeutic use , Humans , Hydroxychloroquine/therapeutic use , Immunoglobulins, Intravenous/therapeutic use , Immunologic Factors/therapeutic use , Lopinavir/therapeutic use , Male , Methylprednisolone/therapeutic use , Oseltamivir/therapeutic use , Recurrence , Ritonavir/therapeutic use , SARS-CoV-2 , Systemic Inflammatory Response Syndrome/complications , Systemic Inflammatory Response Syndrome/drug therapy , Williams Syndrome/complications , COVID-19 Drug TreatmentABSTRACT
Supravalvular aortic stenosis is the rarest form of left ventricular outflow tract obstruction. Aspergillus endocarditis is also rare and generally reported in immunocompromised hosts. Here we present a case of an immunocompetent patient with supravalvular aortic stenosis complicated by aortic mycotic pseudoaneurysm due to invasive aspergillosis.
Subject(s)
Aortic Stenosis, Supravalvular/complications , Aspergillosis/etiology , Endocarditis, Bacterial/etiology , Immunocompromised Host , Adult , Aortic Stenosis, Supravalvular/diagnosis , Aspergillosis/diagnosis , Echocardiography , Endocarditis, Bacterial/diagnosis , Endocarditis, Bacterial/microbiology , Female , Humans , Magnetic Resonance Imaging, Cine/methodsABSTRACT
La estenosis subaórtica, aunque patología infrecuente, es susceptible de cursar con muerte súbita por un mecanismo arritmogénico. Si bien su etiología no está aún aclarada, dado el presumible componente genético subyacente, el examen autópsico se convierte en instrumento esencial para el diagnóstico posmortem y trasmitir el pertinente consejo médico a los familiares. Se presenta el estudio médico forense de una mujer de 39 años, que fallece de forma súbita a causa de esta etiología, se discuten los principales hallazgos y los antecedentes familiares conocidos
Subaortic stenosis, although an infrequent pathology, is prone to cause a sudden death through an arrhythmogenic mechanism. Although its aetiology is still unclear, and given an assumed underlying genetic component, the autopsy becomes an essential tool for post-mortem diagnosis of the disease and to give relevant medical advice to family members. A case of sudden death of a 39 year-old woman involving this aetiology is presented, and the medico-legal findings, as well as a discussion on the known family's medical background
Subject(s)
Humans , Female , Adult , Death, Sudden, Cardiac/etiology , Aortic Stenosis, Supravalvular/complications , Aortic Stenosis, Supravalvular/diagnosis , Forensic PathologyABSTRACT
Congenital atresia of the left main coronary artery (LMCA) is an exceedingly rare phenomenon, and in the most of them, coronary artery bypass graft is required. We here describe a rare case of this anomaly that concomitantly was associated with supravalvar aortic stenosis and coronary-pulmonary fistula without the presence of conventional collateral circulation in a 16-year-old boy. The patient was admitted to our center with chest pain and dyspnea. Echocardiographic examinations showed supravalvar aortic stenosis with normal function of the aortic valve. Coronary angiography revealed atresia of LMCA with poorly developed left anterior descending coronary artery and well-developed circumflex coronary artery and diagonal artery that perfused by dominant and lengthy right coronary artery. The patient underwent coronary artery bypass grafting with repair of supravalvar aortic stenosis. The postoperative course was uneventful. The 6-month follow-up revealed normal diameter of the ascending aorta with symptomatic relief of preoperative chest complaint.
Subject(s)
Aortic Stenosis, Supravalvular/surgery , Coronary Artery Disease/surgery , Adolescent , Aortic Stenosis, Supravalvular/complications , Aortic Stenosis, Supravalvular/diagnostic imaging , Coronary Angiography , Coronary Artery Disease/complications , Coronary Artery Disease/diagnostic imaging , Echocardiography , Fistula/complications , Fistula/diagnostic imaging , Humans , Male , Pulmonary Artery , Rare Diseases , Treatment OutcomeABSTRACT
Isolated supravalvular aortic stenosis in adults is a rare form of left ventricular outflow tract obstruction. We describe a case in a 41-year-old man in whom the supravalvular aorta had narrowed to approximately the size of the left anterior descending coronary artery. The patient underwent aortic surgery with replacement of the ascending aorta and repair of supravalvular aortic stenosis with a pantaloon graft. A postoperative echocardiogram showed substantial improvement: the mean gradient across the aorta had fallen from 48 to 8 mmHg. Surgery is the definitive treatment in symptomatic patients with supravalvular aortic stenosis.
Subject(s)
Aortic Diseases/etiology , Aortic Stenosis, Supravalvular/complications , Arterial Occlusive Diseases/etiology , Ventricular Outflow Obstruction/etiology , Adult , Aortic Diseases/diagnostic imaging , Aortic Diseases/surgery , Aortic Stenosis, Supravalvular/diagnostic imaging , Aortic Stenosis, Supravalvular/surgery , Aortography/methods , Arterial Occlusive Diseases/diagnostic imaging , Arterial Occlusive Diseases/surgery , Blood Vessel Prosthesis , Blood Vessel Prosthesis Implantation/instrumentation , Computed Tomography Angiography , Echocardiography, Doppler , Heart Valve Prosthesis , Heart Valve Prosthesis Implantation/instrumentation , Humans , Male , Prosthesis Design , Severity of Illness Index , Treatment Outcome , Ventricular Outflow Obstruction/diagnostic imaging , Ventricular Outflow Obstruction/surgerySubject(s)
Aortic Stenosis, Supravalvular , Conservative Treatment/methods , Coronary Vessels/diagnostic imaging , Multimodal Imaging/methods , Non-ST Elevated Myocardial Infarction , Adult , Aortic Stenosis, Supravalvular/complications , Aortic Stenosis, Supravalvular/diagnosis , Aortic Stenosis, Supravalvular/therapy , Female , Humans , Non-ST Elevated Myocardial Infarction/diagnosis , Non-ST Elevated Myocardial Infarction/etiology , Non-ST Elevated Myocardial Infarction/therapy , Treatment OutcomeABSTRACT
Cardiac remodeling is defined as changes in shape and function of the heart in response to aggression (pressure overload). The sarcoplasmic reticulum calcium ATPase cardiac isoform 2a (SERCA2a) is a known factor that influences function. A wide spectrum of studies report a decrease in SERCA2a in heart failure, but none evaluate it's the role in early isolated diastolic dysfunction in supravalvular aortic stenosis (AoS). Our hypothesis was that SERCA2a participates in such dysfunction. Thirty-day-old male Wistar rats (60-80 g) were divided into AoS and Sham groups, which were submitted to surgery with or without aorta clipping, respectively. After 6 weeks, the animals were submitted to echocardiogram and functional analysis by isolated papillary muscle (IPM) in basal condition, hypoxia, and SERCA2a blockage with cyclopiazonic acid at calcium concentrations of 0.5, 1.5, and 2.5 mM. Western-blot analyses were used for SERCA2a and phospholamban detection. Data analysis was carried out with Student's t-test and ANOVA. AoS enhanced left atrium and E and A wave ratio, with preserved ejection fraction. Basal condition in IPM showed similar increases in developed tension (DT) and resting tension (RT) in AoS, and hypoxia was similar between groups. After cyclopiazonic acid blockage, final DT was equally decreased and RT was similar between groups, but the speed of relaxation was decreased in the AoS group. Western-blot was uniform in all evaluations. The hypothesis was confirmed, since functional parameters regarding SERCA2a were changed in the AoS group.
Subject(s)
Aortic Stenosis, Supravalvular/complications , Hypertrophy, Left Ventricular/physiopathology , Sarcoplasmic Reticulum Calcium-Transporting ATPases/physiology , Ventricular Dysfunction, Left/physiopathology , Animals , Aortic Stenosis, Supravalvular/metabolism , Calcium-Binding Proteins/analysis , Collagen/analysis , Diastole/physiology , Disease Models, Animal , Echocardiography , Heart Ventricles/pathology , Heart Ventricles/physiopathology , Hypertrophy, Left Ventricular/etiology , Hypertrophy, Left Ventricular/metabolism , Hypoxia/metabolism , Hypoxia/physiopathology , Indoles , Male , Myocardial Contraction/physiology , Rats, Wistar , Sarcoplasmic Reticulum Calcium-Transporting ATPases/analysis , Sarcoplasmic Reticulum Calcium-Transporting ATPases/metabolism , Time Factors , Ventricular Dysfunction, Left/etiology , Ventricular Dysfunction, Left/metabolism , Ventricular Remodeling/physiologyABSTRACT
The present study aimed to identify the mutation causing an atypical syndrome. High-resolution single nucleotide polymorphism (SNP) arrays are considered to be a major detection method for submicroscopic chromosomal rearrangements smaller than 5 Mb in size. Genomic DNA samples of the patient and his parents were converted to a final concentration of 50 ng/ml. The Illumina BeadScan genotyping system and the HumanOmni1Quad Chip were employed to obtain the signal intensities of SNP probes. The patient presented with congenital heart disease, autism, mental retardation, growth retardation, hypercalcemia, nephroliths and cleft palate. The karyotypes of the patient and his parents were normal. The present study employed highresolution SNP arrays to analyze the whole genome for copy number variations (CNVs). A total of 309 CNVs were discovered. A de novo 1.5 Mb gain of chromosome 7q11.23 (Chr7: 72,357,32273,856,472) was identified following exclusion of CNVs presented in the Database of Genomic Variants. In conclusion, to the best of our knowledge, the current study describes the first case of a patient presenting with WilliamsBeuren syndrome alongside supravalvular aortic stenosis, autism and cleft palate, and identifies an atypical deletion at 7q11.23.
Subject(s)
Polymorphism, Single Nucleotide , Williams Syndrome/diagnosis , Aortic Stenosis, Supravalvular/complications , Aortic Stenosis, Supravalvular/diagnosis , Aortic Stenosis, Supravalvular/diagnostic imaging , Child, Preschool , Chromosomes, Human, Pair 7 , Cleft Palate/complications , Cleft Palate/diagnosis , Cleft Palate/genetics , DNA Copy Number Variations , Echocardiography , Gene Deletion , Genotype , Humans , Karyotype , Male , Oligonucleotide Array Sequence Analysis , Pedigree , Phenotype , Williams Syndrome/complications , Williams Syndrome/geneticsABSTRACT
Cardiac remodeling is defined as changes in shape and function of the heart in response to aggression (pressure overload). The sarcoplasmic reticulum calcium ATPase cardiac isoform 2a (SERCA2a) is a known factor that influences function. A wide spectrum of studies report a decrease in SERCA2a in heart failure, but none evaluate it's the role in early isolated diastolic dysfunction in supravalvular aortic stenosis (AoS). Our hypothesis was that SERCA2a participates in such dysfunction. Thirty-day-old male Wistar rats (60-80 g) were divided into AoS and Sham groups, which were submitted to surgery with or without aorta clipping, respectively. After 6 weeks, the animals were submitted to echocardiogram and functional analysis by isolated papillary muscle (IPM) in basal condition, hypoxia, and SERCA2a blockage with cyclopiazonic acid at calcium concentrations of 0.5, 1.5, and 2.5 mM. Western-blot analyses were used for SERCA2a and phospholamban detection. Data analysis was carried out with Student's t-test and ANOVA. AoS enhanced left atrium and E and A wave ratio, with preserved ejection fraction. Basal condition in IPM showed similar increases in developed tension (DT) and resting tension (RT) in AoS, and hypoxia was similar between groups. After cyclopiazonic acid blockage, final DT was equally decreased and RT was similar between groups, but the speed of relaxation was decreased in the AoS group. Western-blot was uniform in all evaluations. The hypothesis was confirmed, since functional parameters regarding SERCA2a were changed in the AoS group.
Subject(s)
Animals , Male , Aortic Stenosis, Supravalvular/complications , Hypertrophy, Left Ventricular/physiopathology , Sarcoplasmic Reticulum Calcium-Transporting ATPases/physiology , Ventricular Dysfunction, Left/physiopathology , Aortic Stenosis, Supravalvular/metabolism , Calcium-Binding Proteins/analysis , Collagen/analysis , Diastole/physiology , Disease Models, Animal , Echocardiography , Heart Ventricles/pathology , Heart Ventricles/physiopathology , Hypertrophy, Left Ventricular/etiology , Hypertrophy, Left Ventricular/metabolism , Hypoxia/metabolism , Hypoxia/physiopathology , Indoles , Myocardial Contraction/physiology , Rats, Wistar , Sarcoplasmic Reticulum Calcium-Transporting ATPases/analysis , Sarcoplasmic Reticulum Calcium-Transporting ATPases/metabolism , Time Factors , Ventricular Dysfunction, Left/etiology , Ventricular Dysfunction, Left/metabolism , Ventricular Remodeling/physiologyABSTRACT
A 5-year-old boy was diagnosed to have supravalvular aortic stenosis (SVAS). On evaluation of CT angiogram, there was associated bovine aortic arch (BAA). Association of BAA with SVAS has not been previously reported in literature, and to best of our knowledge, this is the first case report of SVAS with BAA. Recent studies show BAA as a marker for aortopathy. SVAS is also an arteriopathy. In light of this, SVAS can also possibly be a manifestation of aortopathy associated with BAA.
Subject(s)
Aorta, Thoracic/anatomy & histology , Aortic Stenosis, Supravalvular/diagnostic imaging , Animals , Aorta, Thoracic/diagnostic imaging , Aortic Stenosis, Supravalvular/complications , Child, Preschool , Humans , Image Processing, Computer-Assisted , Male , Tomography, X-Ray ComputedABSTRACT
BACKGROUND: Pulseless electrical activity cardiac arrest is associated with poor outcomes and the identification of potentially reversible reasons for cardiac arrest is fundamental. CASE PRESENTATION: We describe the case of a 46-year-old male with the rare coincidental finding of supravalvular aortic stenosis and coronary vasospasm leading to recurrent pulseless electrical activity cardiac arrest. Extracorporeal life support was successfully applied for hemodynamic stabilization. Supravalvular aorticstenosis underwent surgical repair. The patient survived five time resuscitation and was discharged after full neurological recovery. CONCLUSIONS: Coronary vasospasm and supravalvular aortic stenosis are rare but potentially reversible causes of pulseless electrical activity cardiac arrest. Extracorporeal life support allows accurate diagnostic and possibly therapy even of uncommon reasons for cardiac arrest.
Subject(s)
Aortic Stenosis, Supravalvular/complications , Coronary Vasospasm/complications , Heart Arrest/etiology , Pulse , Aortic Stenosis, Supravalvular/diagnosis , Computed Tomography Angiography , Coronary Angiography/methods , Coronary Vasospasm/diagnosis , Electrocardiography , Extracorporeal Membrane Oxygenation , Heart Arrest/diagnosis , Heart Arrest/physiopathology , Humans , Male , Middle Aged , Predictive Value of Tests , Recovery of Function , Risk Factors , Time Factors , Treatment OutcomeABSTRACT
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.
Subject(s)
Aortic Stenosis, Supravalvular/surgery , Heart Valve Prosthesis Implantation/methods , Hyperlipoproteinemia Type II/complications , Lipoproteins, LDL/blood , Surgical Flaps , Animals , Aortic Stenosis, Supravalvular/complications , Aortic Stenosis, Supravalvular/diagnosis , Cardiac Catheterization , Cattle , Echocardiography , Humans , Hyperlipoproteinemia Type II/blood , Male , Middle Aged , Pericardium/transplantation , Tomography, X-Ray ComputedABSTRACT
A 1-year-old boy with a bicuspid aortic valve, who had undergone successful repair of coarctation of the aorta by extended end-to-end direct anastomosis at the age of 1 month, was found to have mild supravalvular aortic stenosis involving the left coronary ostium. Because he was so young, we performed a modified Myers' all-autologous 3-sinus reconstruction to allow for potential growth. After transecting the ascending aorta just above the sinotubular junction, the superior wall of the left coronary ostium and the aortic root between both commissures were incised longitudinally, and then each of the incised parts was augmented by creating three flaps of distal aortic wall directly. Postoperatively, myocardial scintigram confirmed resolution of the pressure gradient at the supravalvular stenotic portion and improvement of the perfusion defect in the septal-anterior area.