elastin and Aortic-Coarctation

elastin has been researched along with Aortic-Coarctation* in 4 studies

Other Studies

4 other study(ies) available for elastin and Aortic-Coarctation

ArticleYear
ELN missense variant in patient with mid-aortic syndrome case report.
    BMC cardiovascular disorders, 2022, 12-03, Volume: 22, Issue:1

    Mid-aortic syndrome (MAS) is characterized by the congenital coarctation of the abdominal aorta, abdominal and limb claudication, and hypertension. The etiology of this disorder is very diverse and often manifests in conjunction with Takayasu's arteritis, Williams-Beurens syndrome, and neurofibromatosis. The isolated mid-aortic syndrome is very rare with only a few cases reported in the literature.. A 45 years old man was admitted to the Emergency Department with sudden muscle weakness and facial paralysis on the left side. Imaging studies reveal right middle cerebral artery infarction at the M1 section. Incidental findings include multiple moderate to severe stenoses in the right internal carotid artery, and total abdominal aorta occlusion. A variant at the ELN gene (Elastin, OMIM*130,160): c.1768G > A/wt (p.Ala590Thr) was identified.. This is the first reported case of ELN related mid-aortic syndrome in Vietnam which was diagnosed through careful clinical and genetic workup. The finding of mid-aortic syndrome, in this case, was incidental and the decision to reverse the occlusion was postponed as there was no immediate risk of renal failure or reduced blood flow to the lower limb.

    Topics: Aorta, Abdominal; Aortic Coarctation; Elastin; Humans; Male; Middle Aged; Mutation, Missense; Syndrome

2022
A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations.
    La Pediatria medica e chirurgica : Medical and surgical pediatrics, 2015, Sep-29, Volume: 37, Issue:2

    Williams-Beuren syndrome (WBS) is a genetic disorder caused by elastin gene deletions, and is characterized by cardiovascular malformations, primarily including supravalvular aortic stenosis and peripheral pulmonary stenosis. We report a case of a neonate who developed severe discrete aortic coarctation, underwent multiple surgical interventions, and was subsequently diagnosed with WBS. Severe discrete aortic coarctation is a rare event in WBS newborns. An abnormally thick aortic wall is present in these patients and is the basis of the failure of the classical approach towards coarctation repair, which consists of end-to-end anastomosis as first surgical choice. Our case, and a very few similar previously documented cases, have all demonstrated recoarctation, which only aortic patch implantation was able to successfully repair. In light of this, we would also like to underline the importance of early WBS diagnosis. Therefore, even in mild syndromic phenotype such as low birth weight or facial dysmorphism that raise the suspicion of a genetic syndrome, it is advisable to perform fluorescent in situ hybridization analysis rather than merely karyotypic one.

    Topics: Aortic Coarctation; Elastin; Female; Gene Deletion; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Williams Syndrome

2015
Changes in protein distribution of the aortic wall following balloon aortoplasty for coarctation.
    The American journal of cardiology, 2002, Jan-01, Volume: 89, Issue:1

    Topics: Angioplasty, Balloon, Coronary; Aorta; Aortic Coarctation; Child, Preschool; Collagen; Elastin; Extracellular Matrix Proteins; Female; Humans; Infant; Male

2002
Hypoplastic aortic arch morphology pertinent to growth after surgical correction of aortic coarctation.
    The Annals of thoracic surgery, 1997, Volume: 64, Issue:2

    Whether a hypoplastic transverse arch will grow after successful coarctectomy remains controversial.. We studied 15 coarctation specimens with hypoplastic transverse arch. Eight patients were less than 1 month old and 7 were between 1 and 3 months. The diameter and length of the various segments of the aortic arch were measured. The number of elastin lamellae was determined histologically. Collagen density was quantified with a microdensitophotometer. Using immunohistochemistry, we determined alpha-actin-positive smooth muscle cells in the media of the ascending aorta and the hypoplastic transverse arch.. Despite a hypoplastic transverse arch, the ascending and descending aorta grew. The absolute number of elastin lamellae in the hypoplastic transverse arch was low, but when expressed as a ratio versus its diameter, this number was high (p < 0.05). Collagen density showed high absolute values in the descending aorta. In the older group, 4 of 7 showed no staining for alpha-actin in the hypoplastic transverse arch, whereas under 1 month of age, only 2 of 8 cases were negative.. The hypoplastic transverse arch is characterized by a relatively high number of elastin lamellae. Fewer alpha-actin-positive cells in the hypoplastic transverse arch occur in older specimens, which could indicate a diminished potential growth.

    Topics: Actins; Aorta, Thoracic; Aortic Coarctation; Collagen; Elastin; Female; Humans; Immunohistochemistry; Infant; Infant, Newborn; Male

1997