Pulmonary Arteriovenous Fistulas in Children

Shumacker, Harris B.; Waldhausen, John A.

doi:10.1097/00000658-196310000-00017

Cited by 59 publications

(24 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“… TIA = transient ischaemic attack. ™: The 32 cases reported in reference 76 and 27 cases in reference 56include a high proportion of individuals diagnosed by screening of asymptomatic HHT family members; * indicates a childhood series of 31 patients 71. In view of overlapping series, data from reference 59 were not presented as all cases were reported in reference52, and data in reference 82 were reported only where not stated in reference 75.…”

Section: Pulmonary Arteriovenous Malformations and Hhtmentioning

confidence: 99%

“…Further desaturation on assuming the upright posture, orthodeoxia, is common in patients with PAVMs,91 due primarily to a gravity induced increase in flow through basally situated shunts (approximately 70% of PAVMs),50 52 53 58 71 75 which increases the right-to-left shunt 92. Data on the effect of exercise on shunt flow and hypoxaemia are contradictory 73…”

Section: Pulmonary Arteriovenous Malformations and Hhtmentioning

confidence: 99%

“…71The advent of pulmonary artery embolisation110 111altered the risk-benefit ratio of intervention markedly and coincided with a wider recognition of the risks of leaving asymptomatic PAVMs untreated (although such concerns were first raised nearly 50 years ago86). The hazards of intervention relate predominantly to the procedure, though removal of a low resistance shunt may rarely aggravate coincidental pre-existing pulmonary hypertension resulting from nonHHT pulmonary vascular pathogenic events 73…”

Section: Pulmonary Arteriovenous Malformations and Hhtmentioning

confidence: 99%

“…The majority of PAVMs present during teenage and adult life, suggesting that vascular remodelling is occurring. However, the presentation of PAVMs in childhood is well recognised50 52 53 55 58 59 71 75 78 and, although severe disease in two infants may have been due to homozygous HHT, the possibility of PAVMs arising during development cannot be ruled out.…”

Section: Current Understandings Of Mechanismsmentioning

confidence: 99%

See 3 more Smart Citations

Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

Shovlin¹,

Letarte²

1999

Thorax

358

310

View full text Add to dashboard Cite

Hereditary haemorrhagic telangiectasia (HHT, Rendu-Osler-Weber syndrome) exemplifies an important group of diseases which have catalysed advances in the understanding of fundamental pathophysiological mechanisms. In this paper areas of clinical management of HHT are discussed and the molecular pathogenesis is reviewed. The first section is aimed at all clinicians and concentrates on the recognition of a disorder in which silent cerebral and pulmonary involvement may be life threatening if left untreated. Recent data concerning the diagnostic and treatment modalities for pulmonary arteriovenous malformations (PAVMs) are also reviewed, and the growing concern that many patients with HHT may have small or residual PAVMs is highlighted. The paucity of good longitudinal data on these patients and others with diVerent forms of HHT highlights the need for further clinical studies. In the second section the results of molecular research which suggests a role for receptors and ligands of the transforming growth factor (TGF)-superfamily in the pathogenesis of this vascular disease are discussed. The means by which such information may relate to the clinical heterogeneity observed in HHT are specifically addressed, and more fundamental questions such as how reduced cell surface expression of endoglin predisposes a patient to develop PAVMs are also discussed. Hereditary haemorrhagic telangiectasiaThe classical patient with the vascular disorder hereditary haemorrhagic telangiectasia (HHT) has nose bleeds, dilated blood vessels over the lips and finger tips, and gastrointestinal bleeding in later life. However, this clinical scenario represents only one of the presentation patterns of HHT.1 2 It is now recognised that, in addition to microscopic mucocutaneous telangiectases derived from post capillary venules ( fig 1A), 3 HHT leads to the development of larger abnormal vascular structures at other sites. Arteriovenous malformations in the pulmonary, cerebral, and hepatic circulations account for some of the most devastating clinical complications of the disease.The autosomal dominant inheritance pattern of HHT has enabled identification of the underlying genetic defects, prompting increased scientific interest in the disorder. Mutations in at least two genes have been shown to be associated with HHT in diVerent families: endoglin on chromosome 9, 4 and ALK-1 (activin receptor-like kinase 1) on chromosome 12.5 Both genes encode endothelial cell transmembrane proteins that can be defined as components of the receptor complexes for growth factors of the TGF-super- Figure 1 Hereditary haemorrhagic telangiectasia (HHT). (A) Mucocutaneous

show abstract

Section: Pulmonary Arteriovenous Malformations and Hhtmentioning

confidence: 99%

Section: Pulmonary Arteriovenous Malformations and Hhtmentioning

confidence: 99%

Section: Pulmonary Arteriovenous Malformations and Hhtmentioning

confidence: 99%

Section: Current Understandings Of Mechanismsmentioning

confidence: 99%

See 2 more Smart Citations

Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

Shovlin¹,

Letarte²

1999

Thorax

358

310

View full text Add to dashboard Cite

show abstract

“…A total of 208 cases of pulmonary arteriovenous fistula were reported from 1939 to 1989. [2][3][4][5][6][7][8] Of these, only 5 had multiple pulmonary arteriovenous fistulas bilaterally in the lungs. 2,3 The first 3 patients, who were infants, died of massive pulmonary hemorrhage.…”

Section: Discussionmentioning

confidence: 99%

A Case of Diffuse Pulmonary Arteriovenous Fistula

et al. 1999

View full text Add to dashboard Cite

ulmonary arteriovenous fistulas are abnormal connections between a pulmonary artery and vein. A close relationship between a pulmonary arteriovenous fistula and hereditary hemorrhagic telangiectasia has often been noted and the occurrence of pulmonary arteriovenous fistulas without a family history of telangiectasia is rare. The diffuse type of arteriovenous fistula is difficult to recognize, because it exhibits no abnormal findings on chest radiography or pulmonary arteriography. We report here an adult case of diffuse pulmonary arteriovenous fistulas. Case ReportA 30-year-old Japanese woman was admitted to hospital for dyspnea. She had suffered from cyanosis during infancy, and underwent corrective surgery for a large atrial septal defect (ASD) and partial anomalous pulmonary venous drainage when she was 3 years old. However, her cyanosis continued postoperatively.Her height was 156 cm, weight 47 kg, blood pressure 100/60 mmHg in both arms with a pulse of 80 /min and regular respiratory rate of 25 /min. She exhibited cyanosis and digital clubbing, but no telangiectasia. The lungs were clear to auscultation. The second heart sound was split widely and fixed, but no cardiac murmurs was audible. The electrocardiogram and chest radiograph were normal. Thoracic computed tomography showed dilated azygos and hemiazygos veins. Neurological examination was normal. Arterial blood gas analysis revealed pH 7.454, PO2 47.0, PCO2 33.1 mmHg and SaO2 84%. Transthoracic echocardiography did not reveal atrial septal defect or abnormal Japanese Circulation Journal Vol.63, June 1999 shunt flow. Contrast echocardiograms following the injection of saline agitated with small amount of air revealed a cloud of tiny bubbles appearing first in the right ventricle. After 3 s, these bubbles appeared in the left ventricle, entering through the mitral valve funnel. Angiography revealed doubled inferior vena cavas (IVC); the left IVC and left external iliac vein were connected with the hemiazygos vein, and the right IVC with the left atrium through a small orifice (Fig 1). Most of the blood from the IVCs flowed into the superior vena cava (SVC) via the distended azygos and hemiazygos veins (Fig 2). Pulmonary arteriography revealed no abnormal structures. The mean pulmonary arterial pressure was 10 mmHg. Oxygen saturations in the left upper, right upper and lower pulmonary veins were 85.6, 78.8 and 83.0%, respectively. Perfusion lung scintigraphy, using 99m Tc-macroagglutinated albumin (MAA), showed multiple segmental perfusion defects in the lung fields and accumulation in the kidneys, although ventilation lung scans revealed no defects (Fig 3). Microscopic pulmonary arteriovenous fistulas appearedJpn Circ J 1999; 63: 499 -501 (Received November 11, 1998; revised manuscript received March 2, 1999; accepted March 18, 1999) A 30-year-old Japanese woman was admitted to hospital for dyspnea. She had a history of corrective surgery for a large atrial septal defect and partial anomalous pulmonary venous drainage, which had produced cyanosis in...

show abstract

Pulmonary Arteriovenous Fistulas in Children

Jeresaty¹

1966

Am J Dis Child

View full text Add to dashboard Cite

ALTHOUGH large series of pulmonary arteriovenous fistulas have been reported in adults,1-5 only 32 cases surgically treated and 12 cases diagnosed postmortem have been reported in children.2,6-8 The paucity of pediatric cases could be due to either (a) lack of awareness of this entity in pediatric practice, or to (b) its latency in children with onset of symptoms in adults. Lack of recognition of this disease is probably the explanation, since in 25% to 50% of the adult cases signs and symptoms have been evident since childhood.2,5The first autopsy diagnosis of pulmonary arteriovenous fistula was made in 1897, in a 12-year-old boy, by Churton.9 Smith and Horton 10 are credited with the first clinical diagnosis in a 47-year-old patient who had been a "blue baby." The first successful surgical treatment was reported by Hepburn and Dauphiner11 and performed by Shenstone 12a and Janes 12b in 1942. Rodes 13 is, perhaps, the first to make a clear associa¬ tion of pulmonary arteriovenous fistula with hereditary hemorrhagic telangiectasia. Report of CasesCase 1.-A 7-year-old boy was admitted to Saint Francis Hospital in December 1959 because of symptoms highly suggestive of bronchial asthma. His exercise tolerance was described as poor. A cardiac murmur had been heard at S years of age. Family history was not contributory.He weighed 55 lb (25 kg) and he was 52 inches (132 cm) tall. Slight cyanosis and slight clubbing of the fingers were observed. A grade 2 short, late systolic murmur was heard over the midpre-cordium, apex, and axilla. No telangiectasia was observed.The electrocardiogram showed an incomplete right bundle branch block pattern and an axis of +30 degrees.The chest films (Fig 1) demonstrated linear densities extending inferiorly from the left hilus, and localized to the lingula on the lateral view. Films, taken a year and a half earlier, showed the same opacity.The hematocrit value was 45% and the hemo¬ globin 15.4 gm/100 cc.Cardiac catheterization showed mild arterial unsaturation (93.8%) and normal right heart pres¬ sures pulmonary pressure=17/6 with a mean of 10 mm Hg). The cardiac index was 3.95 liters/ min/sq m. Serial angiocardiography showed a fistula with its arterial and venous connections (Fig 2). Surgery was performed, one week later, through a left parascapular incision. Excision of the lingula was performed with removal of the fistula. At this time the anesthesiologist was having con¬ siderable difficulty in inflating the remaining seg¬ ments of the upper lobe ; they were then removed to avoid postoperative complications. The patho¬ logical diagnosis was confirmatory of an arterio¬ venous fistula in the lingula. The postoperative course was uneventful.In the intervening five years since surgery, the boy has done well ; he now has normal exercise tolerance and his development has been normal.For the first time, telangiectatic spots were recently observed on the right and left arm, and epistaxis has occurred about three times a year There was no clubbing or cyanosis. The hemo¬ globin was 13.6 gm/1...

show abstract

Pulmonary Arteriovenous Fistulas in Children

Cited by 59 publications

References 10 publications

Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

A Case of Diffuse Pulmonary Arteriovenous Fistula

Pulmonary Arteriovenous Fistulas in Children

Contact Info

Product

Resources

About