Supravalvular aortic stenosis in adult with anomalies of aortic arch vessels and aortic regurgitation

Valente, A; Alencar, Polyanna; A, Santos; Lobo, Roberto Augusto de Mesquita; Mesquita, Fernando; Guimarães, Aloyra G.

doi:10.5935/1678-9741.20130088

Cited by 4 publications

(4 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As SVAS is a congenital heart defect, undiagnosed cases in human adults are unusual 26 . In cases of focal SVAS, as in our case, surgery yields good long‐term results in humans 27 .…”

Section: Discussionsupporting

confidence: 57%

See 1 more Smart Citation

Aortopulmonary fistula in a Warmblood mare associated with an aortic aneurysm and supravalvular aortic stenosis

Saey

Decloedt

Poucke

et al. 2020

Veterinary Internal Medicne

View full text Add to dashboard Cite

This case report describes the clinical presentation, the necropsy findings, and genetic results of a 13-year-old Warmblood mare presented with colic and a bilaterally loud, holosystolic murmur. Echocardiographic examination revealed the presence of a thoracic aortic aneurysm, an aortic pseudoaneurysm, a periaortic hematoma (circumferential cuffing by perivascular hemorrhage), and aortopulmonary fistulation. A supravalvular aortic stenosis (SVAS) was visible during echocardiography. Necropsy confirmed that the thoracic aortic aneurysm had ruptured and connected to the pseudoaneurysm, which fistulated into the pulmonary artery. Histologically, the aneurysm wall revealed chronic lesions such as fibrosis, mucin depositions, mineralizations, and elastin fragmentation. The mid abdominal aorta showed lesions suggestive of a systemic elastin arteriopathy. Molecular analysis, however, could not attribute this disease to a variant in the elastin gene, the most common causative gene for SVAS. To the authors' knowledge, this case report describes a case of aortopulmonary fistulation in a Warmblood horse associated with the presence of SVAS and an aortic aneurysm.

show abstract

“…As SVAS is a congenital heart defect, undiagnosed cases in human adults are unusual 26 . In cases of focal SVAS, as in our case, surgery yields good long‐term results in humans 27 .…”

Section: Discussionsupporting

confidence: 57%

“…Cardiovascular malformations associated with SVAS in humans include aortic coarctation and bicuspid aortic valve. The presence of these lesions can interfere with the diagnosis of SVAS 26,30 …”

Section: Discussionmentioning

confidence: 99%

Aortopulmonary fistula in a Warmblood mare associated with an aortic aneurysm and supravalvular aortic stenosis

Saey

Decloedt

Poucke

et al. 2020

Veterinary Internal Medicne

View full text Add to dashboard Cite

show abstract

“…Moreover, Bonini et al 23 once introduced modified Sousa technique for the surgical repair of SVAS, but this has not been used in WS patients. In addition, SVAS in adult can also be managed with aortic valve replacement and arterioplasty of the ascending aorta, which have been performed by Valente et al 24 . In general, the overall early mortality was very low, the late mortality ranged between 0% and 26%, and survival was 95-98% at 5 years as reported by Deo et al 25 .…”

Section: Svasmentioning

confidence: 99%

Congenital heart defects in Williams syndrome

Yuan¹

2017

Turk J Pediatr

View full text Add to dashboard Cite

Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.

show abstract

“…Hyperosmolality increases the mRNA of aquaporin-1, mRNA of upregulated aquaporin-7, protein glycosylation, and intracellular translocation, which may modulate water transport in cardiac myocytes [ 41 , 42 , 43 ]. A rapid increase in plasma osmolality following hypertonic saline administration depresses the sensitivity of the cardiac baroreflex independently of changes in blood pressure, causing an increase in heart rate [ 44 ]. Accumulating data have shown that a rapid increase in plasma osmolality activates sympathetic nerve activity, both in humans and animals [ 45 , 46 , 47 ].…”

Section: Plasma Hyperosmolality and The Heartmentioning

confidence: 99%

Potentially Detrimental Effects of Hyperosmolality in Patients Treated for Traumatic Brain Injury

Dąbrowski

Siwicka-Gieroba

Robba

et al. 2021

JCM

View full text Add to dashboard Cite

Hyperosmotic therapy is commonly used to treat intracranial hypertension in traumatic brain injury patients. Unfortunately, hyperosmolality also affects other organs. An increase in plasma osmolality may impair kidney, cardiac, and immune function, and increase blood–brain barrier permeability. These effects are related not only to the type of hyperosmotic agents, but also to the level of hyperosmolality. The commonly recommended osmolality of 320 mOsm/kg H2O seems to be the maximum level, although an increase in plasma osmolality above 310 mOsm/kg H2O may already induce cardiac and immune system disorders. The present review focuses on the adverse effects of hyperosmolality on the function of various organs.

show abstract

Supravalvular aortic stenosis in adult with anomalies of aortic arch vessels and aortic regurgitation

Cited by 4 publications

References 9 publications

Aortopulmonary fistula in a Warmblood mare associated with an aortic aneurysm and supravalvular aortic stenosis

Aortopulmonary fistula in a Warmblood mare associated with an aortic aneurysm and supravalvular aortic stenosis

Congenital heart defects in Williams syndrome

Potentially Detrimental Effects of Hyperosmolality in Patients Treated for Traumatic Brain Injury

Contact Info

Product

Resources

About