Related Experiment Video

Updated: Feb 26, 2026

Precision Ultrasound-guided Stem Cell Delivery for Vascular Repair in Aortic Diseases
04:59

Precision Ultrasound-guided Stem Cell Delivery for Vascular Repair in Aortic Diseases

Published on: June 20, 2025

842

Endovascular treatment of genetically linked aortic diseases

D Böckler1, K Meisenbacher1, A S Peters1

  • 1Klinik für Gefäßchirurgie und Endovaskuläre Chirurgie, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 110, 69120 Heidelberg, Germany.

Gefasschirurgie : Zeitschrift Fur Vaskulare Und Endovaskulare Chirurgie : Organ Der Deutschen Und Der Osterreichischen Gesellschaft Fur Gefasschirurgie Unter Mitarbeit Der Schweizerischen Gesellschaft Fur Gefasschirurgie
|July 18, 2017
PubMed

Insights

Endovascular repair for genetic connective tissue diseases is limited due to high reintervention rates. Conservative or open repair remains the primary treatment for these aortic conditions.

Area of Science:

  • Vascular Biology
  • Genetics
  • Cardiovascular Surgery

Background:

  • Connective tissue diseases, including Marfan syndrome and Ehlers-Danlos syndrome, affect vascular wall proteins like collagen and elastin.
  • These genetic disorders can lead to arterial degeneration, aneurysm formation, dissection, and rupture.
  • Key conditions include Marfan syndrome, vascular Ehlers-Danlos syndrome (type IV), Loeys-Dietz syndrome, and familial aortic aneurysms/dissections.

Purpose of the Study:

  • To review the current status of endovascular treatment options for patients with genetically linked connective tissue diseases.
  • To evaluate the efficacy and safety of endovascular aortic repair (EVAR) and thoracic endovascular aortic repair (TEVAR) in this patient population.

Main Methods:

  • Systematic evaluation of available randomized studies.
  • Analysis of registry data on endovascular interventions for connective tissue diseases.

Main Results:

  • Conservative or open surgical repair is the primary treatment for young patients with these conditions.
  • Limited evidence supports the use of EVAR for abdominal aortic aneurysms and TEVAR for thoracic aortic pathology in these patients.
  • High reintervention rates and uncertain long-term outcomes are associated with endovascular approaches.

Conclusions:

  • Endovascular aortic repair (EVAR/TEVAR) is generally not recommended for genetically linked aortic diseases due to risks of secondary endoleaks and high reintervention rates.
  • Current consensus suggests EVAR/TEVAR should be reserved for exceptional cases and emergencies in patients with these genetic conditions.
  • Long-term results for endovascular treatments in this population remain uncertain, favoring traditional methods.
Abstract

Keywords:
AortaConnective tissue diseaseEndovascular aortic repairMarfanThoracic endovascular aortic repair

More Related Videos

Novel and Innovative Hybrid Technique for Type A Aortic Dissection06:26

Novel and Innovative Hybrid Technique for Type A Aortic Dissection

Published on: March 28, 2025

1.1K
Author Spotlight: Development of a Minimally Invasive Large-Animal Model for Reliable and Reproducible Cardiovascular Research06:51

Author Spotlight: Development of a Minimally Invasive Large-Animal Model for Reliable and Reproducible Cardiovascular Research

Published on: October 20, 2023

1.8K

Related Concept Videos

Aneurysm III: Interprofessional Care01:26

Aneurysm III: Interprofessional Care

Aneurysm management involves either conservative medical therapy or surgical intervention, depending on the size and symptoms of the aneurysm. Conservative management is generally reserved for smaller, asymptomatic aneurysms, while larger or symptomatic aneurysms often necessitate surgical repair.Conservative Medical TherapyFor small, asymptomatic aneurysms, particularly abdominal aortic aneurysms (AAA) less than 5.5 centimeters in diameter, conservative medical therapy is recommended. This...
387
Aortic Regurgitation III: Medical Management01:25

Aortic Regurgitation III: Medical Management

Aortic regurgitation (AR) is when the aortic valve does not close or seal properly, leading to backward blood circulation from the aorta into the left ventricle during diastole. Common causes of AR include rheumatic heart disease, congenital valve defects, and aortic root dilation. Managing AR requires a multifaceted approach to alleviate symptoms, preserve left ventricular function, and address the underlying cause of the regurgitation. Patients with symptomatic AR or significant left...
512
Aortic Regurgitation I: Introduction01:15

Aortic Regurgitation I: Introduction

IntroductionAortic regurgitation is characterized by the backward flow of blood from the aorta into the left ventricle during diastole and arises from the improper closure of the aortic valve. This condition results in left ventricular volume overload and can stem from both acute and chronic etiologies, each contributing uniquely to the disease's progression and symptomatology.Acute and Chronic CausesAcute aortic regurgitation often results from events that suddenly impair the integrity of the...
874
Aneurysm I: Introduction01:30

Aneurysm I: Introduction

An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
542