Pulmonary arteriovenous malformation in a neonate: a condition commonly misdiagnosed

Abstract

Pulmonary arteriovenous malformations (PAVMs) are congenital defects in the form of an anomalous bridging between a pulmonary arterial and venous system that sidesteps the normal pulmonary capillary. This anomaly is usually associated with hereditary hemorrhagic telangiectasia, leftover small group are sporadic cases but may occur as an isolated anomaly or as multiple lesions. Rarely, such abnormalities can be acquired. Few cases are diagnosed in the neonatal period, as it will pass silent without symptoms. Clinical manifestations occur soon after birth as cyanosis, tachypnea, and an abnormal sound as bruit over the AVM; and the most important point is the clinical suspicion of diagnosis in absence of pulmonary parenchymal and cardiac disease that can explain the persistence of cyanosis. We report a successful Amplatzer vascular plug occlusion of isolated multiple left side PAVM in a neonate, which was done on two stages with a 6 months interval, with no complications. Over 2-year follow-up, the patient remained well with no symptoms.

Giant Neonatal Pulmonary Arteriovenous Malformation: An Imaging and Management Challenge

“…Since then there have been six additional reports of neonatal PAVMs. 3,4,[6][7][8][9] As in this case, the most pronounced feature of neonatal presentations is cyanosis that is unresponsive to supplemental oxygen and mechanical ventilation. Other respiratory symptoms include tachypnea and respiratory distress.…”

Sudden pediatric death unveiling pulmonary arteriovenous malformations

“…The frequent misdiagnosis of PAVM in early life highlights the importance of increasing autopsy numbers for epidemiological contributions. 12 , 13 HHT is a widely recognized hereditary autosomal dominant inherited disorder characterized by diverse multisystemic abnormalities in vascular tissue. The Curaçao criteria, which aid in the diagnosis, include (i) spontaneous and recurrent epistaxis, (ii) multiple telangiectasias on the skin and mucous membranes in specific locations (such as the tongue, mouth/throat, lips, conjunctivae, ears, hands/fingers, and gastrointestinal tract), (iii) the presence of visceral arteriovenous malformations (AVMs) in organs such as the lung, liver, brain, and spine, and (iv) a positive family history (having a first-degree family member with HHT).…”

Pulmonary arteriovenous malformation with unexplained cyanosis as the first presentation of hereditary haemorrhagic telangiectasia, case report, and literature review

“…Epistaxis, melaena, and neurological symptoms should alert the clinician to the possibility of coexisting HHT. 5 …”