Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations

Jakobi, Peter; Weiner, Zeev; Best, Lael‐Anson; Itskovitz‐Eldor, Joseph

doi:10.1016/s0029-7844(00)01091-7

Cited by 21 publications

(16 citation statements)

References 7 publications

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“…PAVMs often increase in size and number during pregnancy [62, 78, 141], and may occasionally give rise to potentially lethal complications such as hemorrhage [18, 78, 79,142,143,144,145] requiring emergency surgical treatment [79, 142, 144] or embolization therapy [145]. Severe infections potentially related to PAVMs may also occur [18].…”

Section: Special Considerations During Pregnancy and Childhoodmentioning

confidence: 99%

Pulmonary Vascular Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler Disease)

et al. 2007

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Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is a genetic disorder with autosomal dominance and variable penetrance, characterized by epistaxis, telangiectasia and visceral manifestations of the disease. The estimated minimal prevalence is 1/10,000 inhabitants. The diagnosis is established on clinical criteria, and may be further confirmed by the identification of causative mutations in either the ENG or the ACVRL1 gene coding for endoglin and ALK1, respectively. Pulmonary vascular manifestations of HHT include pulmonary arteriovenous malforma- tions (PAVMs; especially in patients with ENG mutations) and less frequently pulmonary hypertension (especially in patients with ACVRL1 mutations). In 15–33% of patients with HHT, PAVMs consist of abnormal communications between pulmonary arteries and pulmonary veins, causing right-to-left shunting, and thus, frequently hypoxemia and dyspnea on exertion, although PAVMs may remain asymptomatic and frequently undiagnosed unless complications occur. PAVMs result in severe and frequent complications often at a young age, which may reveal the diagnosis, e.g. transient ischemic attack and cerebral stroke (10–19% of patients), systemic severe infections and abscesses (including cerebral abscess in 5–19% of patients), and rarely massive hemoptysis or hemothorax. Infections in HHT are related to the right-to-left shunting that bypasses the pulmonary capillaries and facilitates the passage of septic or aseptic emboli into the systemic and especially cerebral circulation, and potentially to minor defects in innate immunity. Treatment of PAVMs based on transcatheter coil vaso-occlusion of the feeding artery significantly decreases right-to-left shunting, hypoxemia and dyspnea on exertion, and reduces the risk of systemic complications. Long-term follow-up is warranted after transcatheter vaso-occlusion of PAVMs due to frequent recanalization of treated PAVMs and development or growth of untreated PAVMs. Patients with HHT should be informed of the risk of PAVM and potentially severe complications occurring in heretofore asymptomatic subjects. All adult patients with HHT should be proposed systematic screening for PAVM, by contrast echocardiography (preceded by anteroposterior chest radiograph) or computed tomography of the chest. Pulmonary hypertension is rare in HHT, and may be due either to systemic arteriovenous shunting in the liver increasing cardiac output or be clinically and histologically indistinguishable from idiopathic pulmonary arterial hypertension. Pulmonary hypertension is detected by systematic examination of right cardiac cavities and tricuspid regurgitation flow at echocardiography, and the diagnosis is established by right heart catheterization.

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Section: Special Considerations During Pregnancy and Childhoodmentioning

confidence: 99%

Pulmonary Vascular Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler Disease)

et al. 2007

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“…Arteriovenous fistulas can be located in cerebral, hepatic or pulmonary vessels. Especially pregnant women with familial teleangiectasia and arteriovenous fistulas are at high risk of developing hemoptysis and hemothorax during the second half of pregnancy [3]. No general screening test is available, though a known familial genetic defect can reliably be determined in other family members [4], especially two genes (DNA sequencing and deletion duplication analysis of the coding exons of the endoglin gene and the activin A receptor type II-like 1 gene) account for the majority of cases [5].…”

Section: Discussionmentioning

confidence: 99%

Large Fetal Pulmonary Arteriovenous Malformation Detected at Midtrimester Scan with Subsequent High Cardiac Output Syndrome and Favorable Postnatal Outcome

Hellmund

Berg

Bryan³

et al. 2013

Fetal Diagn Ther

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Prenatal diagnosis of pulmonary arteriovenous malformations (PAVM), caused by abnormal communications between pulmonary arteries and pulmonary veins, is rarely described. We report a case of a PAVM between the right pulmonary artery and the left atrium, referred to our prenatal unit at 22 + 1 weeks of gestation, with severe cardiomegaly, dilation of the right pulmonary artery and a right pulmonary vein and retrograde flow in the ductus arteriosus. The fistula was located in the right lung and showed a broad, disturbed flow at color Doppler with high velocity and low pulsatility. The fetus was monitored weekly and cardiac function remained sufficient until 36 + 1 weeks of gestation, when increasing cardiomegaly prompted delivery by cesarean section. The newborn was transferred to the neonatal intensive care unit, intubated and the fistula was surgically removed. The boy could be discharged at the 43rd day of life and showed an uneventful course until the last follow-up at the age of 4 years, with no residual mental or physical handicaps and a normal cardiac function. Despite adverse outcomes described in previously reported cases of large PAVM complicated by severe cardiomegaly at midtrimester scan, our case had a good outcome.

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“…Such management is usually undertaken at specialist units where screening-surveillance recommendations have been published, particularly when pregnancy is being considered or confirmed. 1,3,8 Many women with HHT are well-informed Tables 1 and 2 of the risks associated in pregnancy from patient group internet sites, including www.telangiectasia.co.uk and www.hht.org. 3 HHT: specific manifestations and pregnancy…”

Section: Hht: Etiology and Diagnosismentioning

confidence: 99%

“…Another risk, aside from the increased risk of rupture presenting with massive hemoptysis and/or hemothorax, includes significant right to left shunt resulting in hypoxemia, heart failure, and the potential passage of emboli across the shunt into the systemic circulation causing complications, such as stroke and cerebral or systemic abscesses. 8,[18][19][20] In Shovlin's series of 262 pregnancies, 1% were associated with a major PAVM bleed, 1.2% were associated with stroke (though not all HHT related), and 1% were associated with maternal death. A prior diagnosis of HHT or PAVM was associated with improved survival in the event of a major complication in pregnancy.…”

Section: Pulmonary Features Of Hhtmentioning

confidence: 99%

“…Some authors would advocate ongoing surveillance of women with known, suspected, or previously treated PAVMs during pregnancy with a variety of investigations, including regular radiographic imaging, blood gas analysis, postural pulse oximetry, and echocardiography. 8,10,23 At least three cases of recanalization of previously treated PAVMs have been described in pregnancy. 10,11,21 In cases of ruptured PAVMs, recurrent bleeding, large PAVMs, and failed embolization, thoracotomy and lung resection is the remaining option; such cases are described at 26 and 29 weeks' gestation followed by deliveries at term.…”

Section: Pulmonary Features Of Hhtmentioning

confidence: 99%

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Anesthetic implications for the parturient with hereditary hemorrhagic telangiectasia

Lomax

Edgcombe

2009

Can J Anesth/J Can Anesth

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Purpose To review the effects of hereditary hemorrhagic telangiectasia (HHT) in the parturient and the anesthetic management of such patients during pregnancy and delivery. Source A literature search was performed using Medline and EMBASE databases. Bibliographies of retrieved articles were searched for additional sources. Principal findings Hereditary hemorrhagic telangiectasia affects 1 in 5000-8000 people. It is a genetic condition in which vascular dysplasia affects many organs particularly the pulmonary, cerebral, gastrointestinal, and spinal vasculature. A large proportion of women with HHT have uneventful pregnancies. However, women can present in pregnancy with clinically silent but potentially life-threatening features of the disorder including fatal hemorrhage from ruptured arteriovenous malformations (AVMs), systemic emboli, and high output cardiac failure secondary to arteriovenous shunting. Literature on the anesthetic management of HHT in pregnancy is limited. Both general and regional anesthetic techniques have been successfully performed in these patients, but are reliant on identifying the presence of specific AVMs; avoidance of cardiovascular instability; and prophylaxis against systemic emboli secondary to pulmonary AVM shunting. The presence of spinal AVMs is considered a relative contraindication to regional techniques. As with other systemic AVMs, these can develop and increase in size during pregnancy with implications for the timing of screening and surveillance. Conclusions An understanding of the presence and potential development of life-threatening AVMs during pregnancy is imperative for anesthesiologists caring for parturients with HHT. Even in the asymptomatic patient, a high index of suspicion should be maintained, screening performed where possible and anesthetic technique adapted accordingly. RésuméObjectif Passer en revue les effets de la te´langiectasie he´morragique he´re´ditaire (THH) chez les parturientes et la prise en charge de telles patientes pendant leur grossesse et l'accouchement. Source Une recherche de la litte´rature

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Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations

Abstract: Antenatal diagnosis and treatment of women with hereditary hemorrhagic telangectasia and pulmonary arteriovenous malformations might prevent potentially life-threatening fetomaternal complications.

Cited by 21 publications

References 7 publications

Pulmonary Vascular Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler Disease)

Pulmonary Vascular Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler Disease)

Large Fetal Pulmonary Arteriovenous Malformation Detected at Midtrimester Scan with Subsequent High Cardiac Output Syndrome and Favorable Postnatal Outcome

Anesthetic implications for the parturient with hereditary hemorrhagic telangiectasia

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