Multidetector computed tomography of congenital aortic abnormalities

Sriharan, Mona; Λαζούρα, Όλγα; Padley, Simon; Nicol, Edward; Rubens, Michael B.

doi:10.1016/j.ijcard.2014.01.008

Cited by 14 publications

(8 citation statements)

References 38 publications

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“…To indicate the presence of a vascular ring, a regular chest X-ray for tracheal compression, and barium contrast esophagography for esophageal compression, respectively, have a higher sensitivity [9], [26]. For identifying the exact morphology of an arch vessel anomaly, non invasive imaging techniques like magnetic resonance imaging and computed tomography are warranted, and they can be used with the same efficiency as invasive angiographic techniques, which has been the gold standard for decades [9], [27]. The identification of abnormal aortic arch arteries can also be important for asymptomatic CHARGE syndrome patients who need interventional or surgical procedures because routine procedures may be complicated in patients with arch vessel anomalies, e.g., when associated with anomalies of the laryngeal nerve.…”

Section: Discussionmentioning

confidence: 99%

Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity

Corsten‐Janssen

Ravenswaaij-Arts

Kapusta

2016

IJC Heart & Vasculature

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BackgroundCHARGE syndrome is a complex multiple congenital malformation disorder with variable expression that is caused by mutations in the CHD7 gene. Variable heart defects occur in 74% of patients with a CHD7 mutation, with an overrepresentation of atrioventricular septal defects and conotruncal defects — including arch vessel anomalies.Methods and resultsWe report an index patient with an arch vessel anomaly underlying serious feeding problems that resolved after arch vessel surgery. This led us to examine the incidence of arch vessel anomalies in our previously studied cohort of 299 patients with a CHD7 mutation. Forty-two patients (14%) had an aortic arch anomaly, mostly aberrant subclavian artery or right aortic arch, which usually occurred in combination with other congenital heart defects (81%). The majority of these patients also had feeding problems that may be linked to their arch anomaly, but insufficient information was available to exclude other causes.ConclusionsArch vessel anomalies occur in a significant proportion of patients with a CHD7 mutation, and these anomalies may cause morbidity due to compression of the esophagus or trachea. Since symptoms of vascular compression can mimic those caused by other abnormalities in CHARGE syndrome, it is important to be aware of arch vessel anomalies in this complex patient category. Whether a solitary arch vessel anomaly is an indicator for CHARGE syndrome still needs to be studied, but doctors should look out for other CHARGE syndrome features in patients with arch vessel anomalies.

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Section: Discussionmentioning

confidence: 99%

Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity

Corsten‐Janssen

Ravenswaaij-Arts

Kapusta

2016

IJC Heart & Vasculature

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“…Indeed CT cannot be recommended for systematic follow-up but may provide substantial information when TTE is difficult (because of echogenicity, restrained window which is frequent in Marfan patients with orthopaedic involvement), when TTE is performed for the first time to validate the ability of this technique to follow-up the patient or when surgery is discussed. Although aortic diameter is probably an imperfect marker of the aortic risk, it remains at the present time the best validated, and the parameter used for estimating potential therapy benefit [15][16][17][18][19].…”

Section: Discussionmentioning

confidence: 99%

Comparative assessment of ascending aortic aneurysms in Marfan patients using ECG-gated computerized tomographic angiography versus trans-thoracic echocardiography

Amsallem

Milleron

et al. 2015

International Journal of Cardiology

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“…MRA provides essentially equivalent information, although imaging tends to be longer and more prone to artifact in patients with prior surgery. However, it poses no radiation risk and can be performed without contrast (9,11,12). Both modalities allow multiplanar and three-dimensional (3D) reconstruction.…”

Section: Mfsmentioning

confidence: 99%

Syndromes with aortic involvement: pictorial review

Zucker

2018

Cardiovasc. Diagn. Ther.

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A variety of syndromes are associated with thoracoabdominal aortic pathologies. While these diseases are collectively rare, the presence of advanced or unusual aortic disease at a young age should raise suspicion of an underlying syndrome. Similarly, patients with a known syndrome require close monitoring in anticipation of future aortic disease. In this article, the syndromes most commonly encountered in clinical practice are reviewed, including Marfan syndrome (MFS) and other connective tissue disorders, Turner syndrome (TS), autosomal dominant polycystic kidney disease (ADPKD), neurofibromatosis (NF), Williams syndrome (WS), Alagille syndrome (AGS), and DiGeorge syndrome (DGS). The distinct clinical, imaging, and management features of each disorder are discussed. Attention is focused on the unique patterns of aortic disease in each syndrome, emphasizing the role of recent imaging modalities and treatment strategies. Ancillary and distinguishing aspects of the syndromes that aid in diagnosis are also highlighted.

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Multidetector computed tomography of congenital aortic abnormalities

Cited by 14 publications

References 38 publications

Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity

Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity

Comparative assessment of ascending aortic aneurysms in Marfan patients using ECG-gated computerized tomographic angiography versus trans-thoracic echocardiography

Syndromes with aortic involvement: pictorial review

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