SHM Converge Scientific Abstract ePoster Gallery-Clubbing: An Unexpected Finding

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This case report describes a 3-year-old boy with hereditary hemorrhagic telangiectasia (HHT) who presented with recurrent hypoxia and was found to have digital clubbing, elevated hemoglobin, and a strong maternal family history of HHT. Although he did not show the classic pediatric or adult signs of HHT such as recurrent nosebleeds or mucocutaneous telangiectasias, his chronic hypoxia prompted further evaluation.<br /><br />Chest CTA revealed a large high-flow pulmonary arteriovenous malformation (AVM) in the left lower lobe with contrast shunting, explaining his low oxygen saturations. He underwent cardiac catheterization with device occlusion of two feeder vessels, leading to immediate improvement in oxygenation, elimination of his oxygen requirement, and later improvement in energy, respiratory symptoms, and growth.<br /><br />The report highlights that HHT is often difficult to diagnose in children because clinical criteria have lower sensitivity in younger patients, especially ages 0–5. Current international guidelines recommend offering genetic testing to asymptomatic children with an affected parent, screening at-risk children for pulmonary AVMs, and brain MRI screening even if asymptomatic because of hemorrhage risk. Symptomatic pulmonary AVMs should be treated with embolization, which is generally safe and effective.<br /><br />Overall, this case emphasizes that pediatric HHT can present atypically, and signs of chronic hypoxia such as clubbing and persistent low oxygen levels should raise suspicion for pulmonary AVMs even in the absence of classic findings.

Asset Subtitle

Lyena J. Birkenstock

Meta Tag

Author List Lyena J. Birkenstock, Valien Kondos

Category Clinical Vignettes

Concept Hereditary Hemorrhagic Telangiectasia

Concept Pulmonary Arteriovenous Malformation

Concept Autosomal Dominant Inheritance

Concept Curaçao Criteria

Concept Hypoxemia

Distinguished Non-Finalist

Presenter Organization Sidney Kimmel Medical College

Presenting Author Lyena J. Birkenstock

Track Pediatric

Keywords

hereditary hemorrhagic telangiectasia

pediatric HHT

pulmonary arteriovenous malformation

chronic hypoxia

digital clubbing

elevated hemoglobin

family history

chest CTA

device occlusion

embolization

Hereditary Hemorrhagic Telangiectasia

Pulmonary Arteriovenous Malformation

Autosomal Dominant Inheritance

Curaçao Criteria

Hypoxemia