Hereditary Hemorrhagic Telangiectasia and Myocardial Infarction

Abstract

Hereditary hemorrhagic telangiectasia, also known as Osler–Weber–Rendu syndrome, is an autosomal dominant genetic disorder that leads to epistaxis, gastrointestinal bleeding, iron deficiency anemia, and arteriovenous malformations at the lungs, the liver, and the brain. However, due to its rarity and its unspecific findings on routine examinations, diagnosis is not easy unless suspected due to hypoxemia or paradoxical embolism. We present a case of a 46-year-old-woman with hereditary hemorrhagic telangiectasia and hypoxemia who presented a myocardial infarction secondary to paradoxical embolism through pulmonary arteriovenous malformations.

Keywords

hereditary hemorrhagic telangiectasia - Osler–Weber–Rendu syndrome - pulmonary arteriovenous malformations - myocardial infarction

Note

The authors hereby confirm that neither the manuscript nor any part of it has been published or is being considered for publication elsewhere. We attest to the fact that all authors have contributed significantly to the work, have read the manuscript, and attest to the validity and legitimacy of the data and its interpretation. The authors have also certified that they comply with the principles of ethical publishing. No author has conflict of interest.

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