Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies

Moyamoya disease is an uncommon cerebrovascular condition characterized by progressive stenosis of the bilateral internal carotid arteries with compensatory formation of an abnormal network of perforating blood vessels providing collateral circulation. The etiology and pathogenesis of moyamoya disease remain unclear. Evidence from histological studies, proteomics, and endothelial progenitor cell analyses suggests new theories underlying the cause of vascular anomalies, including moyamoya disease. Familial moyamoya disease has been noted in as many as 15% of patients, indicating an autosomal dominant inheritance pattern with incomplete penetrance. Genetic analyses in familial moyamoya disease and genome-wide association studies represent promising strategies for elucidating the pathophysiology of this condition. In this review, the authors discuss recent studies that have investigated possible mechanisms underlying the etiology of moyamoya disease, including stem cell involvement and genetic factors. They also discuss future research directions that promise not only to offer new insights into the origin of moyamoya disease but to enhance our understanding of new vessel formation in the CNS as it relates to stroke, vascular anomalies, and tumor growth.

Download Full-text

Left cervical aortic arch associated with multiple vascular anomalies

Cardiology in the Young ◽

10.1017/s1047951111000515 ◽

2011 ◽

Vol 21 (6) ◽

pp. 700-702

Author(s):

José Luiz Balthazar Jacob

Keyword(s):

Aortic Arch ◽

Subclavian Artery ◽

Left Subclavian Artery ◽

Coarctation Of The Aorta ◽

Vascular Anomalies ◽

Single Patient ◽

Cardiovascular Abnormalities ◽

Rare Anomaly ◽

Transverse Arch ◽

Brachiocephalic Arteries

AbstractCervical aortic arch is a rare anomaly occasionally associated with other cardiovascular abnormalities. We present a case of tortuous left cervical aortic arch associated with hypoplastic transverse arch, coarctation of the aorta, and right brachiocephalic arteries arising below the coarctation and stenotic origin of the left subclavian artery. These multiple anatomic anomalies, which are associated in our case, have not been described in a single patient previously.

Download Full-text

Assessment of extracranial-intracranial bypass in Moyamoya disease using 3T time-of-flight MR angiography: Comparison with CT angiography

VASA ◽

10.1024/0301-1526/a000363 ◽

2014 ◽

Vol 43 (4) ◽

pp. 278-283 ◽

Cited By ~ 8

Author(s):

Qian Chen ◽

Rongfeng Qi ◽

Xiaoqing Cheng ◽

Changsheng Zhou ◽

Song Luo ◽

...

Keyword(s):

Image Quality ◽

Moyamoya Disease ◽

Mr Angiography ◽

Time Of Flight ◽

Consecutive Series ◽

Tof Mra ◽

Bypass Patency ◽

Significant Difference ◽

Contrast Technique ◽

Vessel Integrity

Background: To evaluate the value of time-of-flight MR angiography (TOF MRA) for the assessment of extracranial-intracranial (EC-IC) bypass in Moyamoya disease in comparison with computed tomography angiography (CTA). Patients and methods: A consecutive series of 23 patients with Moyamoya disease were analyzed retrospectively. Twenty three patients underwent 25 procedures of extracranial-intracranial bypass. Cranial CTA was performed within one week after the surgery to assess bypass patency. Then TOF MRA was scanned within 24 h after CTA on a 3T MRI system. Using 5-point scales (0 = poor to 4 = excellent), two radiologists rated the image quality and vessel integrity of bypass for three segments (extracranial, trepanation, intracranial). Results: Image quality was high in both CTA and TOF MRA (mean quality score 3.84 ± 0.37 and 3.8 ± 0.41), without statistical difference (p = 0.66). Mean scores of TOF MRA with respect to bypass visualization were higher than CTA in the intracranial segment (p = 0.026). No significant difference of bypass visualization regarding the extracranial and trepanation segments was found between TOF MRA and CTA (p = 0.66 and p = 0.34, respectively). For the trepanation segment, TOF MRA showed pseudo lesions in 2 of all 25 cases. Conclusions: 3T TOF MRA, a non-contrast technique not exposing the patients to radiation, proved to be at least equal to CTA for the assessment of EC-IC bypass, and even superior to CTA with respect to the intracranial segment. In addition, readers should be aware of a potential overestimation showing focal pseudo lesions of the bypass at the trepanation segment in TOF MRA.

Download Full-text