Utilization of echocardiography in Ehlers-Danlos syndrome

Kristina K. Rauser-Foltz, Lois J Starr, Angela T Yetman

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalCongenital Heart Disease
DOIs
StatePublished - Jan 1 2019

Fingerprint

Ehlers-Danlos Syndrome
Echocardiography
Pathology
Musculoskeletal Pain
Mitral Valve Prolapse
Electronic Health Records
Blood Vessels
Dilatation
Retrospective Studies
Outcome Assessment (Health Care)
Pediatrics

Keywords

  • Ehlers-Danlos syndrome
  • aneurysm
  • aorta
  • echocardiography

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery
  • Radiology Nuclear Medicine and imaging
  • Cardiology and Cardiovascular Medicine

Cite this

Utilization of echocardiography in Ehlers-Danlos syndrome. / Rauser-Foltz, Kristina K.; Starr, Lois J; Yetman, Angela T.

In: Congenital Heart Disease, 01.01.2019.

Research output: Contribution to journalArticle

@article{e6b5e94bf8464055a0a393352123e3c8,
title = "Utilization of echocardiography in Ehlers-Danlos syndrome",
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",
author = "Rauser-Foltz, {Kristina K.} and Starr, {Lois J} and Yetman, {Angela T}",
year = "2019",
month = "1",
day = "1",
doi = "10.1111/chd.12824",
language = "English (US)",
journal = "Congenital Heart Disease",
issn = "1747-079X",
publisher = "Wiley-Blackwell",

}

TY - JOUR

T1 - Utilization of echocardiography in Ehlers-Danlos syndrome

AU - Rauser-Foltz, Kristina K.

AU - Starr, Lois J

AU - Yetman, Angela T

PY - 2019/1/1

Y1 - 2019/1/1

N2 - 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.

AB - 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.

KW - Ehlers-Danlos syndrome

KW - aneurysm

KW - aorta

KW - echocardiography

UR - http://www.scopus.com/inward/record.url?scp=85069712754&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85069712754&partnerID=8YFLogxK

U2 - 10.1111/chd.12824

DO - 10.1111/chd.12824

M3 - Article

JO - Congenital Heart Disease

JF - Congenital Heart Disease

SN - 1747-079X

ER -