Related Experiment Video

Updated: Aug 16, 2025

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos
10:13

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos

Published on: August 9, 2017

7.7K

Cardiac anomalies in Axenfeld-Rieger syndrome

Nishma Valikodath1, James A Johns2, Justin Godown2

  • 1Department of Pediatrics, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, USA.

Cardiology in the Young
|December 21, 2022
PubMed

Insights

Axenfeld-Rieger syndrome, a rare disorder, frequently involves heart defects. This study found nearly a quarter of patients with this condition had congenital heart disease (CHD).

Area of Science:

  • Genetics and Developmental Biology
  • Cardiology
  • Pediatrics

Background:

  • Axenfeld-Rieger syndrome is a rare genetic disorder affecting multiple body systems.
  • Cardiac anomalies are known complications of Axenfeld-Rieger syndrome.

Purpose of the Study:

  • To determine the prevalence and types of congenital heart disease (CHD) in patients diagnosed with Axenfeld-Rieger syndrome.

Main Methods:

  • Retrospective review of electronic medical records for patients with Axenfeld-Rieger syndrome.
  • Documentation of the presence and specific types of congenital heart disease (CHD) in identified patients.

Main Results:

  • Out of 58 patients diagnosed with Axenfeld-Rieger syndrome, 14 (24.1%) exhibited congenital heart disease (CHD).
  • A diverse range of cardiac lesions were observed among affected patients.

Conclusions:

  • Congenital heart disease (CHD) is a significant comorbidity in Axenfeld-Rieger syndrome, affecting approximately one-quarter of patients.
  • The findings highlight the importance of cardiac screening in individuals with Axenfeld-Rieger syndrome due to the variety of potential heart defects.

Keywords:
Axenfeld–Rieger syndromeCHDglaucoma

More Related Videos

Echocardiographic Evaluation of Atrial Communications before Transcatheter Closure07:41

Echocardiographic Evaluation of Atrial Communications before Transcatheter Closure

Published on: February 8, 2022

3.8K
2D and 3D Echocardiography in the Axolotl Ambystoma Mexicanum09:53

2D and 3D Echocardiography in the Axolotl Ambystoma Mexicanum

Published on: November 29, 2018

14.9K

Related Concept Videos

Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
29
Imaging Studies for Cardiovascular System III: X-Ray01:20

Imaging Studies for Cardiovascular System III: X-Ray

The most common cardiovascular diagnostic test is an X-ray. It produces images of the heart, blood vessels, and adjacent structures.
Definition and Purpose
An X-ray, or radiograph, is a non-invasive method that uses ionizing radiation to take images of internal structures. It is mainly used in cardiac imaging to examine the heart, lungs, and major blood vessels, aiming to identify abnormalities in the heart's size, shape, and position, such as heart failure, congenital defects, and vascular...
230
Cardiovascular System Abnormal Findings II: Auscultation01:25

Cardiovascular System Abnormal Findings II: Auscultation

Auscultation, an essential part of a heart examination, is done using a stethoscope. It provides crucial information about heart function and possible heart problems. Due to heart problems, abnormal sounds can be heard during systole or diastole. These sounds include S3 and S4 gallops, opening snaps, systolic clicks, and murmurs.
Abnormal Heart Sounds
Gallops:
203
Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
41
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...
18
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
29