Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature

Deshpande, Shriprasad; Alazraki, Adina; Khoshnam, Nasim; Kantarovich, Diana; Hoseinzadeh, Pooya; Hebson, Camden; Bhatia, Ajay; Schaffer, Lauren R.; Maccou, Elana; Shehata, Bahig M.

doi:10.1016/j.carpath.2017.07.005

Cited by 5 publications

(3 citation statements)

References 19 publications

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“…2013; Gagnon et al 2014;Nasevicius and Ekker 2000;Hwang et al 2014;Amsterdam et al 2011;Rohner et al 2011;Sander et al 2011;Woods and Schier 2008). Several zebrafish models have been generated and characterized for heritable connective tissue disorders including osteogenesis imperfecta, Bruck Syndrome, and EDS (Delbaere et al 2019;Gistelinck et al 2016a, b). At this moment, zebrafish models for CL syndromes are limited to pycr1-and scl2a10related disease.…”

Section: Fbln5mentioning

confidence: 99%

Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Elastic Fiber Homeostasis

Beyens

Pottie

Sips

et al. 2021

Advances in Experimental Medicine and Biology

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Cutis laxa (CL) syndromes are a large and heterogeneous group of rare connective tissue disorders that share loose redundant skin as a hallmark clinical feature, which reflects dermal elastic fiber fragmentation. Both acquired and congenital --Mendelian-forms exist. Acquired forms are progressive and often preceded by inflammatory triggers in the skin, but may show systemic elastolysis. Mendelian forms are often pleiotropic in nature and classified upon systemic manifestations and mode of inheritance. Though impaired elastogenesis is a common denominator in all Mendelian forms of 1,

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Section: Fbln5mentioning

confidence: 99%

Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Elastic Fiber Homeostasis

Beyens

Pottie

Sips

et al. 2021

Advances in Experimental Medicine and Biology

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“…Some reports documented successful surgical repair and long-term survival in certain cases. [5][6][7] Genetic testing of patients and their parents play an important role in the identification of the mode of inheritance, recurrence risk and disease prognosis. 1,3 Due to the progressive nature of this disease, regular follow up is of paramount importance with medical teams including cardiac surgeons, pediatric cardiologists, geneticists, dermatologists, and pulmonologists.…”

Section: Casementioning

confidence: 99%

Hemopericardium with cardiac tamponade as a rare presentation of a massive aortic aneurysm in a young child with autosomal recessive cutis laxa

2021

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Aortic aneurysms are rare in the pediatric age group and are commonly caused by genetic disorders associated with vasculopathy, weakness and fragility of arterial walls with progressive dilatation or even rupture. We reported a giant aortic aneurysm involving the ascending aorta and aortic arch in a 20-month-old girl with autosomal recessive cutis laxa type 1B (ARCL1B) who presented with hemorrhagic pericardial effusion and tamponade (impending rupture). Successful surgical repair has been done through excision of the aneurysmal part and replacement by Hemashield graft with preservation of the aortic valve.

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“…Most of them are associated with genetic aortic syndromes (connective tissue disorders or congenital bicuspid aortic valve), infection, trauma, or complications following umbilical artery catheterization. 1 2 3 In terms of localization, they can develop in different parts of the aorta; the most common are abdominal aneurysms, aneurysms of thoracoabdominal, or ascending aorta occurring less frequently. 4 5 The treatment of these potentially life-threatening conditions can be complex and challenging.…”

Section: Introductionmentioning

confidence: 99%

Idiopathic Aneurysm of the Aortic Arch in an Infant

Cvitkovic

Petená

Sarikouch

et al. 2022

Thorac Cardiovasc Surg Rep

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Congenital aortic aneurysms are rare disorders, usually associated with genetic aortic syndromes. Here, we describe the case of an idiopathic aortic arch aneurysm which had been diagnosed prenatally by fetal echocardiography. The diagnosis was confirmed after birth in the neonatal period and successful surgical resection of the aneurysm was performed at the age of 3 months. The idiopathic etiology of the aneurysm, its localization, and the early surgical resection render this case very unusual.

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Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature

Cited by 5 publications

References 19 publications

Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Elastic Fiber Homeostasis

Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Elastic Fiber Homeostasis

Hemopericardium with cardiac tamponade as a rare presentation of a massive aortic aneurysm in a young child with autosomal recessive cutis laxa

Idiopathic Aneurysm of the Aortic Arch in an Infant

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