Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations
| Autor: | Lissa Sugeng, Lawrence H. Young, Shahnaz Punjani, Agnes S Kim, Jeffrey Pollak, Sumeet Pawar, Guadalupe Garcia-Tsao, Min Jung Kim, Katharine J. Henderson, John T. Fahey |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Heart Defects
Congenital Male Pathology medicine.medical_specialty Vascular Malformations Activin Receptors Type II subaortic membrane 030204 cardiovascular system & hematology high‐output cardiac failure 03 medical and health sciences 0302 clinical medicine medicine hereditary hemorrhagic telangiectasia Humans In patient Telangiectasia Liver vascular malformations 030304 developmental biology Original Research Retrospective Studies Heart Failure 0303 health sciences business.industry Discrete Subaortic Stenosis Middle Aged medicine.disease Prognosis Pulmonary hypertension Survival Analysis United States Liver Echocardiography Mutation Female Telangiectasia Hereditary Hemorrhagic medicine.symptom Cardiology and Cardiovascular Medicine business Cardiac Output High |
| Zdroj: | Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease |
| ISSN: | 2047-9980 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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