Severe Hypoxemia Caused by High-Output Heart Failure and Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia

Hiroaki Yamamoto; Chieko Itamoto; Tomomi Yamaguchi; Tomoki Koshyo

doi:10.1016/j.jaccas.2021.10.008

Severe Hypoxemia Caused by High-Output Heart Failure and Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia

JACC Case Rep. 2021 Dec 1;3(17):1863-1868. doi: 10.1016/j.jaccas.2021.10.008.

Authors

Hiroaki Yamamoto¹, Chieko Itamoto¹, Tomomi Yamaguchi^{2

3

4}, Tomoki Koshyo^{2

3

4

5}

Affiliations

¹ Department of Cardiology, Nagano Chuo Hospital, Nagano, Japan.
² Department of Genetic Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
³ Center for Medical Genetics; and.
⁴ Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan.
⁵ Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan.

Abstract

A man affected by hereditary hemorrhagic telangiectasia who had chronic severe hypoxemia is presented. This hypoxemia was synergistically caused by high-output heart failure due to severe hepatic shunts and multiple pulmonary arteriovenous shunts. The symptomatic combination is rare, and genetic testing showed a novel endoglin mutation. (Level of Difficulty: Advanced.).

Keywords: AVM, arteriovenous malformation; CT, computed tomography; HAVM, hepatic arteriovenous malformation; HF, heart failure; HHT, hereditary hemorrhagic telangiectasia; PAVM, pulmonary arteriovenous malformation; chronic heart failure; genetic disorders; genotype; phenotype; right-sided catheterization.

Publication types

Case Reports