Isolation of the subclavian artery: 4 cases report and literature review

Chen, Ming–Ren; Cheng, Kun-Shan; Lin, Yu-Ching; Yu, Chang-Hsien; Chi, Meng-Hung; Wu, Shyr-Jao; Yun, Chun‐Ho

doi:10.1007/s10554-006-9188-2

Cited by 9 publications

(3 citation statements)

References 19 publications

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“…We also observed what appears to be a right aortic arch with isolated origin of the left subclavian artery (LSA) from either the pulmonary trunk or ductus arteriosus. This a rare but previously reported finding in humans 27 . Although it has not been seen in CES, other abnormalities of the great vessels have been.…”

Section: Discussionsupporting

confidence: 70%

Cecr2 mutant mice as a model for human cat eye syndrome

Dicipulo

Norton

Fairbridge

et al. 2021

Sci Rep

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Cat eye syndrome (CES), a human genetic disorder caused by the inverted duplication of a region on chromosome 22, has been known since the late 1890s. Despite the significant impact this disorder has on affected individuals, models for CES have not been produced due to the difficulty of effectively duplicating the corresponding chromosome region in an animal model. However, the study of phenotypes associated with individual genes in this region such as CECR2 may shed light on the etiology of CES. In this study we have shown that deleterious loss of function mutations in mouse Cecr2 effectively demonstrate many of the abnormal features present in human patients with CES, including coloboma and specific skeletal, kidney and heart defects. Beyond phenotypic analyses we have demonstrated the importance of utilizing multiple genetic backgrounds to study disease models, as we see major differences in penetrance of Cecr2-related abnormal phenotype between mouse strains, reminiscent of the variability in the human syndrome. These findings suggest that Cecr2 is involved in the abnormal features of CES and that Cecr2 mice can be used as a model system to study the wide range of phenotypes present in CES.

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Section: Discussionsupporting

confidence: 70%

Cecr2 mutant mice as a model for human cat eye syndrome

Dicipulo

Norton

Fairbridge

et al. 2021

Sci Rep

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“…The isolated subclavian artery is supplied by the vertebral artery collaterals or the ductus arteriosus. 1 7 It may be associated with tetralogy of Fallot (TOF), IAA, or PDA. Treatment surgical correction by reconnecting the isolated subclavian artery to the aorta.…”

Section: Aortic Arch Variants and Anomaliesmentioning

confidence: 99%

Congenital Anomalies of Aortic Arch: A Pictorial Essay

Goel¹,

Viswamitra

2022

Indian J Radiol Imaging

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“…Isolated subclavian artery refers to loss of its aortic continuity along with its ductal connection to the pulmonary artery. 1 It is often associated with other intra-cardiac defects. [2][3][4] In this anomaly, vertebral steal during arm exercise leads to vertebrobasilar insufficiency and neurological symptoms.…”

mentioning

confidence: 99%

Clues to echocardiographic diagnosis of isolation of right subclavian artery in a patient with DiGeorge syndrome and its transcatheter management with its associated anomalies

2019

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Isolated subclavian artery is a rare anomaly. A second steal due to a patent arterial duct further reduces arm perfusion. Surgical anastomosis of the isolated vessel to aorta normalises arm perfusion. Simple echocardiographic clues aid in the diagnosis. An associated moderate sized ventricular septal defect was non-surgically closed along with catheter closure of the duct resulting in improved arm perfusion.

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Isolation of the subclavian artery: 4 cases report and literature review

Cited by 9 publications

References 19 publications

Cecr2 mutant mice as a model for human cat eye syndrome

Cecr2 mutant mice as a model for human cat eye syndrome

Congenital Anomalies of Aortic Arch: A Pictorial Essay

Clues to echocardiographic diagnosis of isolation of right subclavian artery in a patient with DiGeorge syndrome and its transcatheter management with its associated anomalies

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