Prevalence of intracranial aneurysms in Marfan syndrome

David J Laczynski1, Siwei Dong1, Vidyasagar Kalahasti2

  • 1Cleveland Clinic Foundation, Department of Vascular Surgery, Cleveland, OH.

Abstract

Insights

The prevalence of intracranial aneurysms (IA) in Marfan syndrome (MFS) patients was 7.1%. This study found no significant association between IA and patient or aortic characteristics in MFS. Further research is needed to confirm these findings.

Area of Science:

  • Neurology
  • Cardiology
  • Genetics

Background:

  • Aortic aneurysms are common in Marfan syndrome (MFS).
  • The prevalence of intracranial aneurysms (IA) in MFS is not well-established.
  • There is ongoing debate regarding an association between MFS and IA.

Purpose of the Study:

  • To determine the prevalence of intracranial aneurysms (IA) in patients with Marfan syndrome (MFS).
  • To investigate potential associations between IA and patient or aortic characteristics in MFS.

Main Methods:

  • Retrospective review of 983 patients with MFS between 1995 and 2021.
  • Identified 198 patients who underwent intracranial imaging (CTA and/or MRA).
  • Collected data on aneurysm details, patient demographics, and aortic characteristics.

Main Results:

  • The prevalence of IA in the MFS population studied was 7.1% (14/198).
  • No significant differences in age or aortic characteristics were found between patients with and without IA.
  • The most common IA location was the internal carotid artery; no ruptures were reported.

Conclusions:

  • Intracranial aneurysms (IA) were identified in 7.1% of Marfan syndrome (MFS) patients studied.
  • No significant patient or aortic factors were associated with IA, though small sample size may limit findings.
  • Multi-institutional studies are necessary to accurately define IA risk in MFS and guide screening recommendations.

Related Concept Videos

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...
16
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...
13
Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm II: Clinical Manifestations and Diagnostic Studies

Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
13
Mitral Valve Prolapse I: Introduction01:27

Mitral Valve Prolapse I: Introduction

IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
23
Thoracic Aorta01:15

Thoracic Aorta

The thoracic section of the aorta begins at the T5 vertebra and extends to the T12 level at the diaphragm, initially progressing through the mediastinum to the left of the spinal column. Throughout its course in the thoracic segment, the thoracic aorta emits various offshoots known collectively as visceral and parietal branches. The branches that predominantly supply blood to visceral organs are termed visceral branches and include bronchial, pericardial, esophageal, and mediastinal arteries,...
587
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
306