This case demonstrates an uncommon manifestation of hereditary haemorrhagic telangiectasia presented with severe pulmonary hypertension. [ncbi.nlm.nih.gov]

[…] in four infants with CAVM, 4, 6, 7 it has not been reported as the primary presentation of HAVM. [nature.com]

• Congestive Heart Failure

  A 3-day-old neonate was diagnosed to have severe congestive heart failure due to a large shunt through a hepatic arteriovenous malformation. Percutaneous transcatheter delivery of two detachable coils resulted in complete abolition of the shunt. [ncbi.nlm.nih.gov]

  We report here our experience with 3 patients with hepatic arteriovenous malformations (AVMs) who presented with symptoms of high-output congestive heart failure during the neonatal period and were subsequently diagnosed with HHT. [pediatrics.aappublications.org]

  Definition / general Congenital vascular malformation; usually symptomatic at birth Does not regress spontaneously Symptoms: abdominal mass or distention, cardiomegaly, congestive heart failure, anemia, thrombocytopenia, DIC, fever, jaundice, elevated [pathologyoutlines.com]

  Heart Failure (CHF) (see Congestive Heart Failure, [[]Congestive Heart Failure]): due to intrapulmonary shunt Endocarditis (see Endocarditis, [[Endocarditis]]) Prognosis Mortality Rate : 4-22% in untreated symptomatic cases Spontaneous Regression of [mdnxs.com]

• Lymphedema

  […] kinase-1 gene mutations ACVRLK1 (MIM.601284) hereditary neurocutaneous angioma (MIM.106070) Associations angiokeratoma corporis diffusum (MIM.600419) Differential diagnosis cerebral cavernous malformations (MIM.116860) juvenile polyposis (MIM.175050) lymphedema [humpath.com]

• Exertional Dyspnea

  Abstract A 55-year-old Japanese housewife, who had Osler-Weber-Rendu disease, was admitted to our hospital because of frequent epistaxis and worsening exertional dyspnea. [ncbi.nlm.nih.gov]

• Pneumonia

  Many pulmonary disease states, such as atelectasis, pulmonary edema, and pneumonia, can cause right-to-left shunting through alveolar capillaries being in contact with non-functioning or partially functioning alveoli. [clinicaladvisor.com]

• Failure to Thrive

  […] bleeding, poor feeding/failure to thrive, thrombocytopenia, coagulopathy, and jaundice (Tables 1 and 2). [journals.lww.com]

• 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]

• Vascular Disease

  Malformations Cardiovascular Abnormalities Cardiovascular Diseases Vascular Diseases Neoplasms, Vascular Tissue Neoplasms by Histologic Type Neoplasms Bevacizumab Antineoplastic Agents, Immunological Antineoplastic Agents Angiogenesis Inhibitors Angiogenesis [clinicaltrials.gov]

  Hence vascular diseases of GIT are a known but rare cause of upper or lower GIT bleeds. [wjes.biomedcentral.com]

  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]

  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]

• Tachycardia

  In severe, chronic cases or in patients with poor cardiac reserve, this may lead to cardiac dilation and high-output cardiac failure. 6,7 A resting tachycardia with slowing of the pulse during compression of the fistula or afferent artery is termed the [evtoday.com]

• Hydrops Fetalis

  fetalis. 12 Although PPHN has been reported as the initial diagnosis in four infants with CAVM, 4, 6, 7 it has not been reported as the primary presentation of HAVM. [nature.com]

• Epistaxis

  We report a case of 46-year-old Asian woman with a history of recurrent epistaxis who presented with dyspnoea on exertion. Physical examination revealed mucocutaneous telangiectasias and signs of heart failure. [ncbi.nlm.nih.gov]

  Although epistaxis is common and most persons affected do not have HHT, the diagnosis should be suspected when there is a history of recurrent and unprovoked nosebleeds, skin or mucosal telangiectasias, a family history of epistaxis, or when epistaxis [aafp.org]

  Our patient required no treatment as the epistaxis was self-limiting. Telangiectases of the skin and buccal mucosa also occur in about 95% of patients, typically presenting later in life than epistaxis [ 2 ]. [bmcresnotes.biomedcentral.com]

  About half of HHT patients develop epistaxis by age twenty years, and about 80-100% develop epistaxis eventually. Epistaxis and mucocutaneous telangiectasias help confirm a diagnosis of HHT. [clinicaladvisor.com]

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]

Efficient diagnosis and treatment demands an interdisciplinary approach, and the interventional radiologist plays a pivotal role in both. [ncbi.nlm.nih.gov]

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]

These may also require a series of treatments about six weeks apart to block all of the abnormal vessels. [hopkinsmedicine.org]

The case, we present is unique because the baby was referred for management of PPHN refractory to treatment. [nature.com]

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]

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]

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]

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]

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 http://dx.doi.org/10.3171/foc.2001.11.1.2 Medline 13 E.R. Christison-Lagay,S.J. [revistapediatria.emnuvens.com.br]

We reviewed the main features of hepatic vascular malformations of Rendu-Osler disease, including epidemiology, diagnosis, outcome, and therapy. [link.springer.com]

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]

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]

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 [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]

Use of an air-eliminating filter on all intravenous lines to prevent paradoxical air embolism. Avoidance of SCUBA diving to prevent decompression-related complications. [clinicaladvisor.com]