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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...

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Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
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.
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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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