Presentation
This case demonstrates an uncommon manifestation of hereditary haemorrhagic telangiectasia presented with severe pulmonary hypertension. [ncbi.nlm.nih.gov]
Respiratoric
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Respiratory Distress
The authors report a full-term female newborn presenting with intractable heart failure and respiratory distress soon after birth. [ncbi.nlm.nih.gov]
A complete sepsis work-up was carried out and parenteral antibiotic therapy initiated in view of progressively increasing respiratory distress at 15 h of age. Detection of a systolic murmur prompted an echocardiographic evaluation at 20 h of age. [nature.com]
Liver, Gall & Pancreas
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Hepatic Bruit
Hepatic AVMs can lead to portal hypertension, biliary disease, and high output cardiac failure secondary to shunting between the hepatic artery and vein. 18 A hepatic bruit may be present. [aafp.org]
Cardiovascular
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Vascular Disease
disease Patients must not have significant vascular disease (e.g., aortic aneurysm, aortic dissection) Patients must not have major surgical procedure, open biopsy, or significant traumatic injury within 4 weeks of beginning Avastin or the anticipation [clinicaltrials.gov]
Severe pulmonary hypertensive vascular disease in two newborns with aneurysmal vein of galen. Pediatr Cardiol 2001; 22 (6): 538–541. 9 Mulrooney DA, Carpenter B, Georgieff M, Angel C, Hunter D, Foker J et al. [nature.com]
Hence vascular diseases of GIT are a known but rare cause of upper or lower GIT bleeds. [wjes.biomedcentral.com]
Other causes of dyspnea include obstructive airways disease, interstitial lung disease, pulmonary infections, lung neoplastic disease, pulmonary vascular disease (e.g., thromboembolic disease, pulmonary hypertension, IPVDs, HPS), pulmonary vasculitis [clinicaladvisor.com]
Workup
However, during the abdominal workup, B-mode ultrasound examination showed several focal liver lesions, ranging from 1–5.4 cm in size. Endoscopy and colonoscopy showed no primary gastrointestinal tumor. [em-consulte.com]
Treatment
Efficient diagnosis and treatment demands an interdisciplinary approach, and the interventional radiologist plays a pivotal role in both. [ncbi.nlm.nih.gov]
The case, we present is unique because the baby was referred for management of PPHN refractory to treatment. [nature.com]
Landing, B.H. and Boechat, I.M. (1989) Infantile hepatic heman-gioma: clinical features, radiological investigations, and treatment of 20 patients. [scirp.org]
INDICATIONS FOR TREATMENT Patients with distal arterial ischemia (“steal”), venous hypertension causing symptoms or end-organ dysfunction, as well as patients with high-output cardiac failure, require treatment. [evtoday.com]
Response to treatment was statistically analysed by comparing clinical scores and cardiac output before treatment, after completion of treatment, and at the end of follow up using the Wilcoxon signed rank test to test for matched pairs. [gut.bmj.com]
Prognosis
Treatment and prognosis Treatment options include: trans-catheter coil embolization surgery (historically treated with surgery) Once successfully treated (embolotherapy, surgical resection), prognosis is generally good for an individual lesion. [radiopaedia.org]
[…] be a cause of atypical cirrhosis Treatment Skin grafts to replace the nasal mucosa can reduce the incidence of epistaxis Embolization or ligation may be used on pulmonary or intrahepatic AVMs GI hemorrhage may require resection of the affected bowel Prognosis [learningradiology.com]
[[Seizures]]) Other Manifestations Anemia (see Anemia, [[Anemia]]) High-Output Congestive Heart Failure (CHF) (see Congestive Heart Failure, [[]Congestive Heart Failure]): due to intrapulmonary shunt Endocarditis (see Endocarditis, [[Endocarditis]]) Prognosis [mdnxs.com]
Its clinical manifestations are diverse and usually seen distal to the SCAVS site, and its prompt diagnosis and management will make for a better neurological prognosis. [em-consulte.com]
The patient along with the family was counselled regarding the diagnosis and the prognosis. Conclusion This 19 year old girl has Hereditary haemorrhagic telangiectasia with chronic liver disease and pulmonary AVM. [bmcresnotes.biomedcentral.com]
Etiology
Neonatal pulmonary hypertension: pathophysiology, classification, and etiology. Clin Perinatol 1984; 11 (3): 517–524. 2 Knudson RP, Alden ER. Symptomatic arteriovenous malformation in infants less than 6 months of age. [nature.com]
Epidemiology xxx Etiology Hereditary Hemorrhagic Telangiectasia (HHT) (Osler Weber-Rendu Syndrome) (see Hereditary Hemorrhagic Telangiectasia, [[Hereditary Hemorrhagic Telangiectasia]]) Epidemiology: accounts for 84% of pulmonary AVM cases Inheritance [mdnxs.com]
Biliary atresia splenic malformation syndrome: an etiologic and prognostic subgroup. Surgery 1993; 113: 662-668 40 Davenport M. Biliary atresia: outcome and management. Indian J Pediatr 2006; 73: 825-828 Peer reviewers: Andrea M.P. [ghrnet.org]
Screening for GI and liver involvement is recommended only for patients who demonstrate possible symptoms such as GI bleeding, anemia of unknown etiology, or hepatic or cardiac failure. [aafp.org]
Epidemiology
occurs in 49% of cases Clubbing (see Clubbing, [[Clubbing]]) Epidemiology: occurs in 32% of cases Cyanosis (see xxxx, [[]]) Epidemiology: occurs in 30% of cases Chest Pain (see xxxx, [[]]) Epidemiology: occurs in 14% of cases Hemoptysis (see xxxx, [ [mdnxs.com]
Pile-Spellman Epidemiology and natural history of arteriovenous malformations Neurosurg Focus, 11 (2001), pp. e1 Medline 13 E.R. Christison-Lagay,S.J. Fishman Vascular anomalies Surg Clin North Am, 86 (2006), pp. 393-425 Medline 14 M. Valdés,M.L. [revistapediatria.org]
Acknowledgments The authors would like to thank the Methods in Epidemiological, Clinical and Operations Research (MECOR) course of the American Thoracic Society. References [1] M.E. Faughnan, V.A. Palda, G. Garcia-Tsao, U.W. Geisthoff, J. [archbronconeumol.org]
Age-related clinical profile of hereditary haemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989 ; 32 : 291 –7 19 Porteus, M, Burn, J, Proctor, S. Hereditary haemorrhagic telangiectasia: a clinical analysis. [cambridge.org]
[…] coils, particles, acrylates, or polymers introduced by a radiographically guided catheter, may be used in addition to neurosurgery or radiosurgery, but is rarely successful in isolation except in smaller AVMs. [15] Gamma knife may also be used. [16] Epidemiology [en.wikipedia.org]
Pathophysiology
Take advantage of detailed discussions of everything from pathophysiology and patient and donor selection, to transplantation anesthesia and operative procedures; immunosuppression; postoperative care; and ethical issues. [books.google.de]
The key pathophysiologic component of PPHN is almost always elevated PVR. There are very few conditions in which increased PBF is an important component of PPHN. [nature.com]
We describe here in detail this rare case of multiple FNH syndrome associated with lung and spinal arteriovenous malformations (AVM), and briefly discuss the possible pathophysiology underlying the association of these apparently unrelated lesions. [em-consulte.com]
Shovlin CL (2010) Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Reviews 24(6): 203–219. [els.net]
This implies that the pathophysiology of the arteriovenous malformations in these conditions is dilation of the normal capillary bed. [emedicine.medscape.com]
Prevention
If surgical redirection of hepatic venous flow to the pulmonary arterial system is possible, it should be undertaken to prevent or treat the pulmonary arteriovenous malformations and their sequelae. [icvts.oxfordjournals.org]
Venous drainage 0: superficial 1: deep Tx: Conservative: AEDs SRS: if 3 cm Obliteration dependent upon dose Gy Chance of Obliteration 20 90% 18 80% 16 70% Dose dependent upon size (less Gy if bigger, to prevent complications) Pr: Occlusion takes 1-3 years [learnneurosurgery.com]
Treatment & Prevention Treatments for arteriovenous malformations vary on a case-by-case basis and depend on the size and location of the AVM. [vascularcures.org]
Surgery — Removing the AVM is the surest way of preventing it from causing future problems. Often surgery is recommended for AVMs that are close to the surface, but it may be too difficult or risky for deeply located or very large ones. [luriechildrens.org]
With microsurgery, we perform a neurosurgery to visualize the AVF under a microscope and we place a titanium clip over the abnormal connection to prevent blood from flowing abnormally from the artery to the vein. [mountsinai.org]