Osler's Disease With an Aortic Arch Aneurysm

Muggia, Franco M.

doi:10.1001/archinte.1964.03860080157018

Cited by 16 publications

(3 citation statements)

References 2 publications

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“…Osler-Weber disease are almost unknown and probably nonexistent. However, since the early descriptions of this disease, neurological symptoms and signs [172], and aorta [121]. HHT should thus be considered a generalized vascular dysplasia and not a simple mucocutaneous disease.…”

Section: Discussionmentioning

confidence: 99%

Neurological manifestations of hereditary hemorrhagic telangiectasia (rendu‐osler‐weber disease): Report of 2 cases and review of the literature

Román

Fisher

Perl

et al. 1978

Annals of Neurology

228

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Two cases of hereditary hemorrhagic telangiectasia (HHT) with neurological involvement are presented. One patient had multiple vascular malformations including telangiectasias of the brain, medulla, and spinal cord and a berry aneurysm of the internal carotid artery; she also had a large cerebellar abscess, presumably reflecting the presence of a pulmonary arteriovenous fistula. The second patient had an idiopathic subarachnoid hemorrhage. In more than 200 reported patients with HHT involving the nervous system, 61% had lesions seondary to a pulmonary arteriovenous fistula (cerebral hypoxemia, paradoxical and septic emboli, and brain abscess). The findings emphasize the need for early surgical correction of such fistulas. In 36% of the patients with neurological involvement and HHT, vascular malformations of the brain and spinal cord were documented, and in 3%, portal-systemic encephalopathy was noted. Multiple lesions were frequent. HHT should be considered a generalized vascular dysplasia (universal or systemic angiomatosis), and not simply a benign mucocutaneous disease.

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Section: Discussionmentioning

confidence: 99%

Neurological manifestations of hereditary hemorrhagic telangiectasia (rendu‐osler‐weber disease): Report of 2 cases and review of the literature

Román

Fisher

Perl

et al. 1978

Annals of Neurology

228

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“…There are case reports of patients with HHT who also have aortic disease [Muggia, ; Thomas, ; Borman and Schiller, ; Trell et al, ; Hsi et al, ; Andersen et al, ; Andrabi et al, ; Ruygrok et al, ; Teekakirikul et al, ]. However, aortopathy is not recognized as part of the HHT syndrome, and it has not been systematically evaluated.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome‐Hereditary Hemorrhagic Telangiectasia due to SMAD4

Heald

Rigelsky

Moran

et al. 2015

American J of Med Genetics Pt A

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Hereditary hemorrhagic telangiectasia (HHT) is characterized by abnormal vascular structures that may present as epistaxis, telangiectasias, and/or arteriovenous malformations. The genes associated with HHT (ACVRL1, ENG, and SMAD4) are members of the TGFβ pathway. Other syndromes associated with abnormalities in TGFβ signaling include Marfan syndrome, Loeys-Dietz syndrome and related disorders. These disorders have aortic disease as a prominent finding. While there are case reports of patients with HHT and aortopathy (dilatation/aneurysm, dissection, and rupture), this has not been systematically investigated. We conducted a retrospective chart review to determine the prevalence of aortopathy in an HHT cohort. Patients from a single institution were identified who met the Curacao Criteria for a clinical diagnosis of HHT and/or had a mutation in ACVRL1, ENG, or SMAD4 and underwent echocardiogram. Two-dimensional echocardiograms were reviewed by a single pediatric cardiologist, and data were collected on demographics, genotype, HHT features, aortic root measurements, past medical history, and family history. Z scores and nomograms were utilized to identify abnormal results. Twenty-six patients from 15 families (one ACVRL1, four ENG, eight SMAD4, and two clinical diagnoses) were included in the analysis. Aortopathy was found in 6/26 (23%) patients; all had SMAD4 mutations. In our cohort, 6/16 (38%) SMAD4 mutation carriers had evidence of aortopathy. These data suggest that aortopathy could be part of the spectrum of SMAD4-induced HHT manifestations. Routine aortic imaging, including measurements of the aorta, should be considered in patients with SMAD4 mutations to allow for appropriate medical and surgical recommendations.

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“…This is the first report to our knowledge of an aortic aneurysm in a patient with HHT in the endovascular era, and previously described cases were repaired using traditional open surgery. 3,5,10,11 Emergency endografting is generally accepted for the treatment of symptomatic thoracic aneurysms or acute dissection where the risk of rupture is imminent, even in young low-risk patients where open surgery could be tolerated. 12 However, most surgeons avoid the use of endografts in patients with connective tissue disease where the entire aorta is compromised, such as Marfan or Loeys-Dietz syndrome, due to young patient age and concerns of deploying the device into diseased landing zones where the risk of late endoleak due to disease progression may be higher.…”

Section: Discussionmentioning

confidence: 99%

Thoracic endografting in a patient with hereditary hemorrhagic telangiectasia presenting with a descending thoracic aneurysm

Andersen

Dubose

Shah

et al. 2010

Journal of Vascular Surgery

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A 53-year-old woman with no classic risk factors for aneurysm disease presented with the sudden onset of chest pain and dyspnea. A large descending thoracic aortic aneurysm with focal type B dissection was identified and excluded by emergency thoracic endografting. Further postoperative evaluation revealed a history of epistaxis, perioral telangiectasias, hepatic hypervascularity, and a mutation in the gene expressing activin receptor-like kinase 1 (ALK1), leading to a diagnosis of hereditary hemorrhagic telangiectasia. Aortic aneurysms associated with hereditary hemorrhagic telangiectasia are extremely rare, and to our knowledge, this is the first report of thoracic endografting in this patient population.

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Osler's Disease With an Aortic Arch Aneurysm

Cited by 16 publications

References 2 publications

Neurological manifestations of hereditary hemorrhagic telangiectasia (rendu‐osler‐weber disease): Report of 2 cases and review of the literature

Neurological manifestations of hereditary hemorrhagic telangiectasia (rendu‐osler‐weber disease): Report of 2 cases and review of the literature

Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome‐Hereditary Hemorrhagic Telangiectasia due to SMAD4

Thoracic endografting in a patient with hereditary hemorrhagic telangiectasia presenting with a descending thoracic aneurysm

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