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Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations
BACKGROUND: Patients with hereditary hemorrhagic telangiectasia have liver vascular malformations that can cause high‐output cardiac failure (HOCF). Known sequelae include pulmonary hypertension, tricuspid regurgitation, and atrial fibrillation. METHODS AND RESULTS: The objectives of this study were...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763373/ https://www.ncbi.nlm.nih.gov/pubmed/33054561 http://dx.doi.org/10.1161/JAHA.120.016197 |
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author | Kim, Agnes S. Henderson, Katharine J. Pawar, Sumeet Kim, Min Jung Punjani, Shahnaz Pollak, Jeffrey S. Fahey, John T. Garcia‐Tsao, Guadalupe Sugeng, Lissa Young, Lawrence H. |
author_facet | Kim, Agnes S. Henderson, Katharine J. Pawar, Sumeet Kim, Min Jung Punjani, Shahnaz Pollak, Jeffrey S. Fahey, John T. Garcia‐Tsao, Guadalupe Sugeng, Lissa Young, Lawrence H. |
author_sort | Kim, Agnes S. |
collection | PubMed |
description | BACKGROUND: Patients with hereditary hemorrhagic telangiectasia have liver vascular malformations that can cause high‐output cardiac failure (HOCF). Known sequelae include pulmonary hypertension, tricuspid regurgitation, and atrial fibrillation. METHODS AND RESULTS: The objectives of this study were to describe the clinical, echocardiographic, and hemodynamic characteristics and prognosis of hereditary hemorrhagic telangiectasia patients with HOCF who were found to have a subaortic membrane (SAoM). A retrospective observational analysis comparing patients with and without SAoM was performed. Among a cohort of patients with HOCF, 9 were found to have a SAoM in the left ventricular outflow tract by echocardiography (all female, mean age 64.8±4.0 years). The SAoM was discrete and located in the left ventricular outflow tract 1.1±0.1 cm below the aortic annular plane. It caused turbulent flow, mild obstruction (peak velocity 2.8±0.2 m/s, peak gradient 32±4 mm Hg), and no more than mild aortic insufficiency. Patients with SAoM (n=9) had higher cardiac output (12.1±1.3 versus 9.3±0.7 L/min, P=0.04) and mean pulmonary artery pressures (36±3 versus 28±2 mm Hg, P=0.03) compared with those without SAoM (n=19) during right heart catheterization. Genetic analysis revealed activin receptor‐like kinase 1 mutations in each of the 8 patients with SAoM who had available test results. The presence of a SAoM was associated with a trend towards higher 5‐year mortality during follow‐up. CONCLUSIONS: SAoM with mild obstruction occurs in patients with hereditary hemorrhagic telangiectasia and HOCF. SAoM was associated with features of more advanced HOCF and poor outcomes. |
format | Online Article Text |
id | pubmed-7763373 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-77633732020-12-28 Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations Kim, Agnes S. Henderson, Katharine J. Pawar, Sumeet Kim, Min Jung Punjani, Shahnaz Pollak, Jeffrey S. Fahey, John T. Garcia‐Tsao, Guadalupe Sugeng, Lissa Young, Lawrence H. J Am Heart Assoc Original Research BACKGROUND: Patients with hereditary hemorrhagic telangiectasia have liver vascular malformations that can cause high‐output cardiac failure (HOCF). Known sequelae include pulmonary hypertension, tricuspid regurgitation, and atrial fibrillation. METHODS AND RESULTS: The objectives of this study were to describe the clinical, echocardiographic, and hemodynamic characteristics and prognosis of hereditary hemorrhagic telangiectasia patients with HOCF who were found to have a subaortic membrane (SAoM). A retrospective observational analysis comparing patients with and without SAoM was performed. Among a cohort of patients with HOCF, 9 were found to have a SAoM in the left ventricular outflow tract by echocardiography (all female, mean age 64.8±4.0 years). The SAoM was discrete and located in the left ventricular outflow tract 1.1±0.1 cm below the aortic annular plane. It caused turbulent flow, mild obstruction (peak velocity 2.8±0.2 m/s, peak gradient 32±4 mm Hg), and no more than mild aortic insufficiency. Patients with SAoM (n=9) had higher cardiac output (12.1±1.3 versus 9.3±0.7 L/min, P=0.04) and mean pulmonary artery pressures (36±3 versus 28±2 mm Hg, P=0.03) compared with those without SAoM (n=19) during right heart catheterization. Genetic analysis revealed activin receptor‐like kinase 1 mutations in each of the 8 patients with SAoM who had available test results. The presence of a SAoM was associated with a trend towards higher 5‐year mortality during follow‐up. CONCLUSIONS: SAoM with mild obstruction occurs in patients with hereditary hemorrhagic telangiectasia and HOCF. SAoM was associated with features of more advanced HOCF and poor outcomes. John Wiley and Sons Inc. 2020-10-15 /pmc/articles/PMC7763373/ /pubmed/33054561 http://dx.doi.org/10.1161/JAHA.120.016197 Text en © 2020 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Original Research Kim, Agnes S. Henderson, Katharine J. Pawar, Sumeet Kim, Min Jung Punjani, Shahnaz Pollak, Jeffrey S. Fahey, John T. Garcia‐Tsao, Guadalupe Sugeng, Lissa Young, Lawrence H. Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations |
title | Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations |
title_full | Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations |
title_fullStr | Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations |
title_full_unstemmed | Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations |
title_short | Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations |
title_sort | subaortic membranes in patients with hereditary hemorrhagic telangiectasia and liver vascular malformations |
topic | Original Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763373/ https://www.ncbi.nlm.nih.gov/pubmed/33054561 http://dx.doi.org/10.1161/JAHA.120.016197 |
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