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. 2019 Sep;14(5):864-867.
doi: 10.1111/chd.12824. Epub 2019 Jul 22.

Utilization of echocardiography in Ehlers-Danlos syndrome

Kristina K Rauser-Foltz  1 , Lois J Starr  2 , Anji T Yetman  1
Affiliations

Utilization of echocardiography in Ehlers-Danlos syndrome

Kristina K Rauser-Foltz et al. Congenit Heart Dis. 2019 Sep.

Abstract

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.

Keywords: Ehlers-Danlos syndrome; aneurysm; aorta; echocardiography.

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References

REFERENCES

    1. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26.
    1. Byers PH, Belmont J, Black J, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017;175(1):40-47.
    1. Asher SB, Chen R, Kallish S. Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders. Am J Med Genet A. 2018;176(9):1838-1844.
    1. Byers P.Vascular Ehlers-Danlos syndrome. https://www.ncbi.nlm.nih.gov/books/NBK1494/. Updated 2019. Accessed April 20, 2019.
    1. Ritter A, Atzinger C, Hays B, et al. Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort. Am J Med Genet A. 2017;173(6):1467-1472.

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