Congenital heart disease · 2019
Utilization of echocardiography in Ehlers-Danlos syndrome.
СтатьяНазвание и аннотация: Перевод в очереди
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Rauser-Foltz Kristina K, Starr Lois J, Yetman Anji T
Аннотация
OBJECTIVES: This study assessed the frequency and utility of echocardiographic examination in patients with all forms of Ehlers-Danlos syndrome and sought to identify clinical variables associated with an abnormal echocardiogram.
DESIGN/SETTING: This was a retrospective study of all patients carrying a diagnosis of Ehlers-Danlos syndrome of any type who were evaluated by a pediatrician or pediatric subspecialist at a single tertiary medical center with an affiliated children's hospital during the period January 2013 to December 2018.
PATIENTS: Chart review was performed on all patients carrying a diagnosis of Ehlers-Danlos syndrome in the electronic medical record.
OUTCOME MEASURES: Data from genetics examination, cardiovascular examination where applicable, genetic test results when available, and echocardiography were recorded.
RESULTS: Of 262 patients identified, echocardiography and cardiac evaluation were common occurring in 90% and 50% of patients with any form of Ehlers-Danlos syndrome. Cardiovascular complications occurred in 50% of patients with vascular Ehlers-Danlos syndrome but echocardiography was normal in all. Aortic dilation was common in classic Ehlers-Danlos syndrome but absent in hypermobile Ehlers-Danlos syndrome. Mitral valve prolapse and bicuspid aortic valve occurred at the same incidence as the general population. Cardiac symptoms were present in 12% but did not correlate with abnormal cardiac structure. Presentation with symptoms of musculoskeletal pain was inversely related to the presence of cardiac pathology.
CONCLUSIONS: In light of the absence of cardiac pathology in patients with hypermobile Ehlers-Danlos syndrome, routine cardiac evaluation and echocardiography are not required for patients with hypermobile Ehlers-Danlos syndrome.
DESIGN/SETTING: This was a retrospective study of all patients carrying a diagnosis of Ehlers-Danlos syndrome of any type who were evaluated by a pediatrician or pediatric subspecialist at a single tertiary medical center with an affiliated children's hospital during the period January 2013 to December 2018.
PATIENTS: Chart review was performed on all patients carrying a diagnosis of Ehlers-Danlos syndrome in the electronic medical record.
OUTCOME MEASURES: Data from genetics examination, cardiovascular examination where applicable, genetic test results when available, and echocardiography were recorded.
RESULTS: Of 262 patients identified, echocardiography and cardiac evaluation were common occurring in 90% and 50% of patients with any form of Ehlers-Danlos syndrome. Cardiovascular complications occurred in 50% of patients with vascular Ehlers-Danlos syndrome but echocardiography was normal in all. Aortic dilation was common in classic Ehlers-Danlos syndrome but absent in hypermobile Ehlers-Danlos syndrome. Mitral valve prolapse and bicuspid aortic valve occurred at the same incidence as the general population. Cardiac symptoms were present in 12% but did not correlate with abnormal cardiac structure. Presentation with symptoms of musculoskeletal pain was inversely related to the presence of cardiac pathology.
CONCLUSIONS: In light of the absence of cardiac pathology in patients with hypermobile Ehlers-Danlos syndrome, routine cardiac evaluation and echocardiography are not required for patients with hypermobile Ehlers-Danlos syndrome.