Bilateral carotid body tumors and cyanotic heart disease

Hirsch, JH; Killien, FC; Troupin, RH

doi:10.2214/ajr.134.5.1073

Cited by 22 publications

(10 citation statements)

References 16 publications

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“…A review of the literature finds 66 patients reported with bilateral familial carotid body tumors 4–29 and only two patients with bilateral nonfamilial carotid body tumors. 30,31 Seven patients have been reported with familial bilateral carotid body tumors and a unilateral glomus tumor 4,32–35 ;our patient is the eighth reported.…”

Section: Introductionmentioning

confidence: 99%

Genetic Analysis in the Diagnosis of Familial Paragangliomas

et al. 2000

The Laryngoscope

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Objectives In the management of two related patients with multicentric glomus jugulare tumors, given the incidence of 1:30,000 with approximately 20% familial cases, our objective was to review the genetic characteristics and inheritance patterns of these tumors and to determine what molecular genetic screening possibilities exist for the phenotypically normal family members. In addition, our aim was to review the incidence of various multicentric paraganglioma (PGL) tumor location combinations. Methods Molecular genetic linkage analysis testing was performed on the 2 patients and 14 other unaffected family members. We report the results of this screening and review the literature on the incidence and genetics of paragangliomas. Results The inheritance pattern in the literature demonstrates autosomal dominant transmission with maternal imprinting (inactivation). The proclivity for multicentric origin increases to 26% in familial cases, as reflected in our patients. In addition to the two patients, four unaffected family members demonstrated the presence of the disease haplotype at chromosome band 11q23, which indicates a very high likelihood of developing a paraganglioma, given the highly penetrant nature of the disease. Conclusions It is clear that the familial PGL gene locus is situated at chromosome 11q23. The gene itself and its exact degree of penetrance, however, still await identification. Since early detection of paragangliomas reduces the incidence of morbidity and mortality, genotypic analysis as a screening tool in families of affected patients should play a front‐line diagnostic role, leading to more timely and cost‐effective patient management.

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Section: Introductionmentioning

confidence: 99%

Genetic Analysis in the Diagnosis of Familial Paragangliomas

et al. 2000

The Laryngoscope

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“…A review of 15 patients with Shamblin III found higher risks of postoperative neurovascular complications 8. Morbidity and death rates associated with CBT resection without sacrifice of the ICA range from 0% to 5% 9 10. Hallet et al 4 reviewed 153 tumours and found higher rates of stroke in patients requiring arterial repair (20% vs 4.5%); fewer strokes were found during preservation of the ICA blood flow.…”

Section: Discussionmentioning

confidence: 99%

The known unknowns of perioperative stroke during carotid body tumour resection

Joshi¹,

Lattimer²,

Shah³

et al. 2013

BMJ Case Reports

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SUMMARYCarotid body tumour (CBT) surgery has a risk of stroke. A 57-year-old lady presented with lethargy and generalised limb pain secondary to a right parathyroid adenoma. CT scan demonstrated as an incidental finding of a left CBT. Intraoperatively the CBT was infiltrating the vessel wall. The carotid bifurcation was resected and reconstructed using a reversed saphenous vein graft. Postoperatively the patient developed right arm weakness. A CT scan showed a left hemispheric watershed infarct. On discharge (day 8 postoperatively) she had no functional deficit. Reconstruction of the internal carotid artery in patients with CBT is associated with an increased risk of stroke. This index case and literature research highlight the knowns and unknowns on stroke associated with CBT resection. BACKGROUND

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“…Postsurgical mortality rate is reported to be 5-13% [18,19], postoperative cranial nerve paralysis rate 32-44% [20] and postoperative cerebrovascular insufficency rate 8-20% [18,19]. Mortality is observed in one case (8.3%) and two cases (16.6%) developed vocal cord paralysis.…”

Section: Discussionmentioning

confidence: 99%

Carotid Body Tumors and Our Surgical Approaches

Şanlı

Öz

Ayduran

et al. 2012

Indian J Otolaryngol Head Neck Surg

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Glomus tumors known as paragangliomas are neoplasms arising from the neural crest. They are named according to the place they originate from. Tumors originating from the carotid body at the carotid bifurcation are called Carotid Body Tumors (CBT). Surgical intervention is planned according to the Shamblin classification. 17 patients were operated after being diagnosed with CBT in our clinic between February 2007 and June 2010. 12 (70.5%) of the patients were male, and 5 (29.4%) of the patients were female. The average age was 42 (ages ranging between 32 and 47). Nine of the patients were diagnosed and treated with Shamblin type I tumor, seven of the patients with type II and one patient with type III. Only one patient had bilateral carotid tumor. In all patients with Shamblin type I and II, blunt dissection of the tumor was conducted smoothly by means of thermal cautery in the subadventitial plane. The patient with Shamblin type III had tumor invasion in the carotid artery and adjacent tissues were in an adherent state. Therefore mass resection was carried out by resecting 2 cm of the distal portion of the common carotid artery and 3 cm of the proximal portion of the internal carotid artery. 6 mm of synthetic polytetrafluoroethylene graft was interpositioned between the common carotid artery and the internal carotid artery. External carotid artery was anastomosed to this graft in an end-to-end fashion. The patient developed vocal cord paralysis postoperatively on the lesion side. The patient who underwent bilateral tumor excision developed Baroreflex Failure Syndrome. In the two patients thrombus developed in the internal carotid artery in the early postoperative period. These patients underwent thrombectomy and developed hemiplegia on the lesion side. One of them died on the seventh post-operative day while in follow-up in the intensive care unit. Surgical resection is the recommended treatment for carotid body tumors. Shamblin I and II type tumors' dimensions and pathological characteristics allow dissection. However Shamblin III tumors may require carotid artery resection and reconstruction due to tissue invasion. The possibility of post-operative cranial nerve paralysis and arterial thrombosis should be taken into account.

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Bilateral carotid body tumors and cyanotic heart disease

Cited by 22 publications

References 16 publications

Genetic Analysis in the Diagnosis of Familial Paragangliomas

Genetic Analysis in the Diagnosis of Familial Paragangliomas

The known unknowns of perioperative stroke during carotid body tumour resection

Carotid Body Tumors and Our Surgical Approaches

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