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Year : 2018  |  Volume : 11  |  Issue : 3  |  Page : 258-260  

Pulmonary arteriovenous malformation in a 2-month-old boy

1 Department of Paediatrics, Aminu Kano Teaching Hospital, Bayero University, Kano, Nigeria
2 Department of Nursing, Aminu Kano Teaching Hospital, Kano, Nigeria

Date of Web Publication29-Jun-2018

Correspondence Address:
Ibrahim Aliyu
Department of Paediatrics, Aminu Kano Teaching Hospital, Bayero University, Kano
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Source of Support: None, Conflict of Interest: None


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Pulmonary arteriovenous malformation (PAVM) is a rare vascular anomaly, in which there is direct connection between branches of the pulmonary artery and pulmonary vein, therefore, bypassing the capillaries; this may remain asymptomatic. However, in severe cases, patients may manifest with cyanosis and high-output heart failure. Furthermore, they stand the risk of stroke and cerebral abscess. This remains a diagnostic challenge in childhood because most patients present in adulthood; therefore, it is easily overlooked. Furthermore, limited diagnostic facilities in resource-limited setting make proper evaluation a constraint. Therefore, the case of a 2-month-old boy, who presented with PAVM early in life and was wrongly treated for chest infection, is reported. The diagnosis in the index case was established using contrast-enhanced computerized tomography of the chest.

Keywords: Cyanosis, heart failure, pulmonary arteriovenous malformation

How to cite this article:
Aliyu I, Ibrahim ZF. Pulmonary arteriovenous malformation in a 2-month-old boy. Med J DY Patil Vidyapeeth 2018;11:258-60

How to cite this URL:
Aliyu I, Ibrahim ZF. Pulmonary arteriovenous malformation in a 2-month-old boy. Med J DY Patil Vidyapeeth [serial online] 2018 [cited 2021 Jun 12];11:258-60. Available from: https://www.mjdrdypv.org/text.asp?2018/11/3/258/235564

  Introduction Top

Pulmonary arteriovenous malformations (PAVMs) are rare vascular malformations; they were first described by Churton in 1897.[1] In PAVMs, the arteries are directly connected with venous channels, bypassing the capillaries.[2] This therefore voids the usual capillary function of substrate exchange and rapidly increases blood flow to the venous system therefore predisposing to blood volume overload in the left ventricle, hence, precipitating heart failure; in the lungs, such bypasses may result in ventilation-perfusion mismatch and severe hypoxemia. They are also prone to intracranial embolism due to loss of the filtration function of the lungs.[3] Furthermore, they may present with thrombocytopenia due to platelet destruction. Therefore, the case of a 2-month-old boy who presented with PAVM which was complicated by heart failure and thrombocytopenia is reported.

  Case Report Top

A 2-month-old boy presented with central cyanosis and recurrent difficulty in breathing which were characterized by occasional apneic attacks since birth; there were also three episodes of generalized tonic–clonic convulsion each lasting for about 5–10 min before presentation; there was no history of bleeding from the nostrils or gastrointestinal tract. There was no history of choking, but difficulty in breathing was exacerbated by breastfeeding. He was previously admitted and treated in a private hospital as chest infection for the same complaint but without significant improvement. He was delivered at term; the pregnancy and delivery were not adversely eventful; an antenatal scan was done, but it was reported as normal. He was a born of a nonconsanguineous marriage. There was no family history of similar problem. He was centrally cyanosed, but there was no digital clubbing and no evidence of telangiectasia. He was tachypneic with vesicular breath sounds; he had tachycardic with apex beat located at the fifth left intercostal and space lateral to the midclavicle line; a continuous murmur was heard over the anterior chest wall and there was a soft hepatomegaly. Oxygen saturation in room air was between 75% and 80% which increased to 90%–92% in 100% oxygen. Full blood count showed white cell count of 3.6 × 109/L, packed cell volume of 26.7%, and platelet count of 72 × 109/L (thrombocytopenia); blood culture was negative. Chest X-ray showed wedge-shaped homogenous opacity on the right lung field [Figure 1]; he was treated for chest infection without significant improvement, a chest computerized tomography scan with contrast studies verified soft tissue opacity on the posterior right side extending inferiorly. There was increased vascularity extending from the soft tissue mass in the posterior right lung with dilated and tortuous vascular channels also extending below the diaphragm to the liver [Figure 2]. The brain computed tomography (CT), electrocardiogram, and echocardiogram were not remarkable though genetic studies were not conducted due to nonavailability of such facilities. Therefore, the diagnosis of PAVM was made. Due to lack of facilities for definitive treatment within our reach, he was managed conservatively; the heart failure and the thrombocytopenia worsened despite anti-heart failure medications and platelet transfusion and the patient died within 4 days of admission. Autopsy was requested, but the parents declined due to their religious belief.
Figure 1: Chest X-ray showing a wedge-shaped right-sided homogenous opacity

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Figure 2: Chest computed tomography showing vascular tributaries arising from the mass some radiating downward toward the diaphragm

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  Discussion Top

Arteriovenous malformations (AVMs) are mostly located in the central nervous system often presenting with seizures, headaches, and intracranial bleeds. However, other organs may also be involved such the liver, kidneys, and spleen,[4] but its occurrences in the lungs are rare with an estimated annual incidence of 3.2 and 4.5 cases/year, as reported in Mayo Clinic reviews of 1972 and 1981, respectively; however, Liu et al.[5] in 2010 reported an incidence of 1:50,000.

The exact cause of PAVM is not completely understood, but they are often congenital in about 80% of cases though acquired cases have been associated with patients with liver cirrhosis and following shunt procedures as in the Fontan surgery.[6] Furthermore, it occurs in about 47%–80% of patients with hereditary hemorrhagic telangiectasia (HHT);[7] however, it is estimated that only 5%–15% of population of those with HHT have PAVM.[8] Therefore, some authors believe it maybe a variant of this syndrome which is linked to mutation in genes located in chromosomes 9q3[9] that codes for endoglin; this is a transforming growth factor-beta binding protein that found on the endothelial cells. However, HHT is autosomal dominant; therefore, it does not explain all cases of AVMs such as in the index case which lacked any family history of similar disorder; more so the index case did not fulfill the Caero criteria for HHT.[10]

The clinical presentation is variable depending on the size and location, ranging from asymptomatic cases reported in 13%–55% of cases in different publications to those with severe respiratory distress in 31%–67% of cases;[11] our patient had a large mass which almost occupied the whole posterior aspect of the lower right lobe, precipitating heart failure at an early age. Although the index case had convulsions, they were attributed to hypoxia because the contrast computer tomography scan of the brain was essentially normal.

Pulmonary angiography remains the gold standard in diagnosing PAVM; however, this is not readily available in most resource-limited settings. Therefore, chest X-rays and contrast enhanced chest CT are of great relevance. Although the index case did not meet the typical chest X-ray description of PAVM such as round or oval mass of uniform density, ranging in size from 1 to 5 cm in diameter), rather it was massive and could easily had been confused with an extensive lobal consolidation, contrast computerized tomography of the chest effectively delineated its vascular connections.[12],[13],[14],[15] Therefore, chest CT has a significant role in the evaluation of children with persistent difficult with breathing; otherwise, rare lesions such as PAVM may be easily missed. Surgical lobectomy had been the mainstay of treatment in the early 1950s before the introduction of transcatheter embolization.[16] Several devices such as Gianturco coils, Amplatzer vascular plugs, and detachable balloons have been used for occlusion with successes.[16] However, our case did not have the benefit of such treatment options due to a lack of such expertise in our facility.

  Conclusion Top

PAVM is a rare disease; however, a high index of suspicion should be entertained, especially in a cyanotic child while excluding the possibility of a cyanotic congenital heart disease.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Churton T. Multiple aneurysms of pulmonary artery. BMJ 1897;1:1223. Available from: http://www.bmj.com. [Last accessed on 2015 Mar 10].  Back to cited text no. 1
Khurshid I, Downie GH. Pulmonary arteriovenous malformation. Postgrad Med J 2002;78:191-7.  Back to cited text no. 2
Trerotola SO, Pyeritz RE. PAVM embolization: An update. AJR Am J Roentgenol 2010;195:837-45.  Back to cited text no. 3
Agrawal A, Whitehouse R, Johnson RW, Augustine T. Giant splenic artery aneurysm associated with arteriovenous malformation. J Vasc Surg 2006;44:1345-9.  Back to cited text no. 4
Liu FY, Wang MQ, Fan QS, Duan F, Wang ZJ, Song P. Endovascular embolization of pulmonary arteriovenous malformations. Chin Med J (Engl) 2010;123:23-8.  Back to cited text no. 5
Kavarana MN, Jones JA, Stroud RE, Bradley SM, Ikonomidis JS, Mukherjee R. Pulmonary arteriovenous malformations after the superior cavopulmonary shunt: Mechanisms and clinical implications. Expert Rev Cardiovasc Ther 2014;12:703-13.  Back to cited text no. 6
McAllister KA, Lennon F, Bowles-Biesecker B, McKinnon WC, Helmbold EA, Markel DS, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: Possible correlation with clinical phenotype. J Med Genet 1994;31:927-32.  Back to cited text no. 7
Dines DE, Arms RA, Bernatz PE, Gomes MR. Pulmonary arteriovenous fistulas. Mayo Clin Proc 1974;49:460-5.  Back to cited text no. 8
McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-51.  Back to cited text no. 9
Hodgson CH, Kaye RL. Pulmonary arteriovenous fistula and hereditary hemorrhagic telangiectasia: A review and report of 35 cases of fistula. Dis Chest 1963;43:449-55.  Back to cited text no. 10
Dines DE, Seward JB, Bernatz PE. Pulmonary arteriovenous fistulas. Mayo Clin Proc 1983;58:176-81.  Back to cited text no. 11
Bosher LH Jr., Blake DA, Byrd BR. An analysis of the pathologic anatomy of pulmonary arteriovenous aneurysms with particular reference to the applicability of local excision. Surgery 1959;45:91-104.  Back to cited text no. 12
Sluiter-Eringa H, Orie NG, Sluiter HJ. Pulmonary arteriovenous fistula. Diagnosis and prognosis in noncomplainant patients. Am Rev Respir Dis 1969;100:177-88.  Back to cited text no. 13
Esplin MS, Varner MW. Progression of pulmonary arteriovenous malformation during pregnancy: Case report and review of the literature. Obstet Gynecol Surv 1997;52:248-53.  Back to cited text no. 14
Gossage JR, Kanj G. Pulmonary arteriovenous malformations. A state of the art review. Am J Respir Crit Care Med 1998;158:643-61.  Back to cited text no. 15
Aggarwal V, Khan DM, Rhodes JF. Pulmonary arteriovenous malformation causing systemic hypoxemia in early infancy. Case Rep Pediatr 2017;2017:2841720.  Back to cited text no. 16


  [Figure 1], [Figure 2]


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