Mid-aortic syndrome presenting in childhood

Panayiotopoulos, Y.P.; Tyrrell, Mark; Koffman, G.; Reidy, John F.; Haycock, G B; Taylor, Peter R.

doi:10.1002/bjs.1800830228

Cited by 72 publications

(48 citation statements)

References 25 publications

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“…Previous work has indicated that the increased risk of hypertension is likely due to this large arterial vessel remodeling that occurs during vascular development [13,14]. Some WBS patients even present smooth segmental narrowing of the abdominal aorta with concomitant stenosis at the origins of the renal arteries [15]. These vascular stenoses have been associated with deletions or disruptions within the elastin (ELN) gene [7,11].…”

Section: Introductionmentioning

confidence: 99%

Induced Chromosome Deletion in a Williams-Beuren Syndrome Mouse Model Causes Cardiovascular Abnormalities

Goergen

Francke

et al. 2010

J Vasc Res

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Aims: The Williams-Beuren syndrome (WBS) is a genetic disorder caused by a heterozygous ∼1.5-Mb deletion. The aim of this study was to determine how the genetic changes in a Wbs mouse model alter Eln expression, blood pressure, vessel structure, and abdominal aortic wall dynamics in vivo. Methods: Elastin (ELN) transcript levels were quantified by qRT-PCR and blood pressure was measured with a tail cuff system. M-mode ultrasound was used to track pulsatile abdominal aortic wall motion. Aortas were sectioned and stained to determine medial lamellar structure. Results: ELN transcript levels were reduced by 38–41% in Wbs mice lacking one copy of the ELN gene. These mice also had a 10–20% increase in mean blood pressure and significantly reduced circumferential cyclic strain (p < 0.001). Finally, histological sections showed disorganized and fragmented elastin sheets in Wbs mice, but not the characteristic increase in lamellar units seen in Eln^+/– mice. Conclusions: The deletion of Eln in this Wbs mouse model results in lower gene expression, hypertension, reduced cyclic strain, and fragmented elastin sheets. The observation that the number of medial lamellar units is normal in Wbs deletion mice, which is in contrast to Eln^+/– mice, suggests other genes may be involved in vascular development.

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Section: Introductionmentioning

confidence: 99%

Induced Chromosome Deletion in a Williams-Beuren Syndrome Mouse Model Causes Cardiovascular Abnormalities

Goergen

Francke

et al. 2010

J Vasc Res

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“…In the 1980s and 1990s, most authors suggested surgical treatment and percutaneous angioplasty (PTA) as primary options [11]. Conversely, the possibility of medical therapy for hypertension was initially discussed by Panayiotopoulos et al, who reported cases with moderate to good BP response [4]. This trend was confirmed to be a valuable option in some forms of MAS, with 13% of patients treated by medical means alone in a literature review [1].…”

Section: Discussionmentioning

confidence: 99%

“…Hypertension is severe, difficult to manage, and often requires several antihypertensive medications and/or surgical repair [1]. Resolution of clinical signs is rare [2,4], and to our knowledge, the confirmation of partial regression of lesions by imaging on long-term follow-up has not been shown in children. We report a case of idiopathic MAS diagnosed in a 13-year-old girl in whom progressive normalization of blood pressure (BP) on antihypertensive therapy allowed cessation of all medication at the age of 17 years…”

Section: Introductionmentioning

confidence: 93%

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Idiopathic midaortic syndrome: normalization of blood pressure on medication

et al. 2011

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Midaortic syndrome (MAS) is a rare, idiopathic condition in children usually presenting with severe hypertension. We report a case of a 13-year-old girl who presented with severe hypertension (200/110 mmHg) associated with renal artery stenosis and normal renal function (creatinine clearance 110 ml/min/1.73m(2)). Percutaneous angioplasty (PTA) was first performed, but early recurrence of hypertension occurred. Subsequent imaging evaluation demonstrated association of aortic narrowing, proximal stenosis of the left renal artery, and wall thickening of superior mesenteric artery and right common carotid artery. Although previous large-vessel arteritis cannot be absolutely excluded, a diagnosis of idiopathic MAS was made, given the absence of any other clinical signs of inflammation (C-reactive protein <0.5 mg/dl; erythrocyte sedimentation rate 5 mm/h). Medical treatment was undertaken without repeat PTA or surgery. Blood pressure control was good, and antihypertensive therapy was stopped 4 years later. At age 22, the patient was still normotensive and receiving no antihypertensive therapy; normalization of Doppler velocities in the proximal left renal artery was confirmed. In the absence of renal dysfunction or target-organ damage, medical management of hypertension in MAS is feasible without intervention if blood pressure is well controlled on two antihypertensive agents.

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“…MAS is best considered as a morphological pattern that can result from more than one disease process [2]. Many cases of MAS are idiopathic, although it is also associated with a number of syndromes [3][4][5][6].…”

Section: Introductionmentioning

confidence: 99%

Infantile midaortic syndrome with aortic occlusion

et al. 2011

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Mid aortic syndrome (MAS) is a rare condition often presenting with severe hypertension. It is characterized by narrowing of the abdominal aorta. We here describe a case of complete occlusion of the abdominal aorta presenting in infancy. This child presented at four months of age with heart failure and hypertension. CT angiogram showed total narrowing of the abdominal aorta. This was initially felt to be too severe for surgical treatment and he was planned for palliative care. We were however able to improve his blood pressure with antihypertensive agents and he underwent succesful angioplasty at five and a half months of age. He has required three further angioplasty procedures and still needs two antihypertensive agents to control his blood pressure. His renal function remains normal and at age six years he has excellent quality of life with normal growth and development. This case illustrates that the combination of medical treatment and angioplasty can give an excellent long-term treatment response even in children with extremely severe MAS. This boy now has normal blood pressure and has experienced normal growth, development and quality of life.

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Mid-aortic syndrome presenting in childhood

Cited by 72 publications

References 25 publications

Induced Chromosome Deletion in a Williams-Beuren Syndrome Mouse Model Causes Cardiovascular Abnormalities

Induced Chromosome Deletion in a Williams-Beuren Syndrome Mouse Model Causes Cardiovascular Abnormalities

Idiopathic midaortic syndrome: normalization of blood pressure on medication

Infantile midaortic syndrome with aortic occlusion

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