ArticleAmerican journal of medical genetics. Part A2025
Unusual Presentation of Coronary Artery Fistula in Capillary Malformation Arteriovenous Malformation 2 Syndrome: A Case Report.
Article in American journal of medical genetics. Part A, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Capillary malformation-arteriovenous malformation syndrome (CM-AVM): a systematic review of cerebrovascular manifestations.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Pooled it
- Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.European journal of neurology · 2026Review
- Bilateral coronary artery fistulas with progressive aortic regurgitation presenting as persistent atrial fibrillation, acute heart failure and pulmonary hypertension: a case report.Frontiers in cardiovascular medicine · 2026Article
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Authors and funding
6 authors.
Funding
Abstract
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a germline vascular dysplasia that is typically characterized by cutaneous capillary malformations and central nervous system arteriovenous malformations (AVM). We report an atypical presentation of CM-AVM2 featuring a giant coronary fistula. A 22-day-old male exhibited a cardiac murmur, leading to the discovery of a large fistula from the left circumflex coronary artery. The patient developed left eye exophthalmos due to a left-sided basilar to pontomesencephalic vein fistula. Genetic testing demonstrated a previously reported pathogenic ephrin type B-receptor 4 (EPHB4) variant c.175G>A, p.Glu59Lys, suggesting a diagnosis of CM-AVM2 syndrome. A variant of uncertain significance in GATA-binding factor 2 (GATA2) c.1289C>T, p.Ala430Val was also identified. Due to residual enlargement of the left coronary artery following fistula occlusion, the patient was initiated on warfarin and aspirin for dual anticoagulation and antiplatelet therapy. This uncommon presentation may warrant cardiac imaging for patients with CM-AVM syndrome presenting with a murmur or other cardiac symptoms. Further investigation is necessary to determine the incidence of cardiac involvement in patients with CM-AVM syndrome.
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