Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

Girit, Saniye; Şenol, Ebru; Karatas, Özge; Yıldırım, Ayşe

doi:10.1016/j.rmcr.2020.101137

Cited by 3 publications

(10 citation statements)

References 9 publications

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“…Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that results in vascular defects, such as arteriovenous malformations and telangiectasias [1]. Although most complications of this syndrome consist of epistaxis, gastrointestinal bleeding, and cerebrovascular hemorrhage, there are several instances where HHT can cause thrombotic/embolic effects, which could result in myocardial infarction (MI), as was the case in our patient.…”

Section: Introductionsupporting

confidence: 55%

Myocardial Infarction in a Patient With Hereditary Hemorrhagic Telangiectasia: A Case Report and Review of Literature

Rao¹,

Khan²,

Aiello³

2021

Cureus

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Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that results in vascular defects and arteriovenous malformations. We present a 25-year-old male with a past medical history of HHT who came in with chest pain and was found to have an ST-elevation myocardial infarction (STEMI) and subsequently received a bare-metal stent to the mid-left anterior descending artery (LAD). Although there is a predisposition for bleeding, HHT can lead to thrombotic manifestations such as myocardial infarction (MI), as seen in our patient. Healthcare providers should be aware of this association to be able to efficiently diagnose acute coronary syndrome in HHT patients. Further studies are required to assess the efficacy of bare-metal stents in HHT patients who present with an MI.

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Section: Introductionsupporting

confidence: 55%

Myocardial Infarction in a Patient With Hereditary Hemorrhagic Telangiectasia: A Case Report and Review of Literature

Rao¹,

Khan²,

Aiello³

2021

Cureus

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“…1 Generally, PAVMs were congenital, most commonly associated with HHT in 80% to 95%. 2,3 HHT or also known as Osler-Weber-Rendu syndrome is an autosomal dominant disease with almost complete penetrance an variable phenotype, linked to the suppression of the inhibition of tranforming growth factor beta (TGF beta) on angiogenesis, by mutation of the ENG or ACVRL 1 genes. 4,5 A number of others conditions, are more rarely associated with acquired PAVMs, such as hepatic cirrhosis, shistosomiasis, mitral stenosis, and metastatic thyroid carcinoma etc.…”

Section: Discussionmentioning

confidence: 99%

“…3,7,9 Generally, clinical manifestations occur later in life. 2,4,7 Symptoms of the PAVM depend on mostly size and less on number of lesions. Solitary PAVM smaller than 2 cm, are most commonly asymptomatic.…”

Section: Discussionmentioning

confidence: 99%

“…However, chest X-rays are insufficient for the diagnosis because PAVMs lesions can be misdiagnosed as tumor of pneumonia or others. 1,2,8 Computed tomography (CT) pulmonary angiography remains a reference exam to confirm the diagnosis with a sensitivity >97% and show as serpiginous of vascular nature or sharply defined nodular mass most often localizated in the lower lung lobes. Three-dimensional (3D) helical CT is also being used for the diagnosis of PAVMs.…”

Section: Discussionmentioning

confidence: 99%

“…Pulmonary arteriovenous Malformations (PAVM) are generally congenital lesions corresponding to abnormal communications between the pulmonary arterial circulation and the pulmonary circulation. 1,2 They can be isolated form or most commonly in association with hereditary hemorrhagic telengiectasia (HHT), also kwon as Osler-Weber-Rendu syndrome. 1 Symptoms depending on the size and number of PAVMs become more evident in adults.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Pulmonary Arteriovenous Malformations Incidentalloma in a 10-Years-Old Child

Mohamed¹,

Waiss²,

Onka³

et al. 2021

Global Pediatric Health

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Pulmonary Arteriovenous Malformations (PAVMs) are structurally abnormal vascular communications between pulmonary arteries and pulmonary veins, which bypass the normal capillary bed and cause a low resistance right-to-left shunt with refractory hypoxemia. Generally, PAVMs were congenital, most commonly associated with (Hereditary hemorrhagic teleangiectasia (HHT). The age of diagnosis is very variable, range neonatal to adulthood, mostly diagnosed in the first 3 decades of life and clinical manifestations occur later in life generally. Here, we report PAVMs discovered incidentally in a 10-years-old child without any known risk factor.

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Not Your Typical Nosebleed: A Case Report and Personal Account of a Patient With Osler-Weber-Rendu Syndrome

Zhitnitsky

Gilde

2022

TPJ

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Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

Cited by 3 publications

References 9 publications

Myocardial Infarction in a Patient With Hereditary Hemorrhagic Telangiectasia: A Case Report and Review of Literature

Myocardial Infarction in a Patient With Hereditary Hemorrhagic Telangiectasia: A Case Report and Review of Literature

Pulmonary Arteriovenous Malformations Incidentalloma in a 10-Years-Old Child

Not Your Typical Nosebleed: A Case Report and Personal Account of a Patient With Osler-Weber-Rendu Syndrome

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