Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

635
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...
635
Aneurysm I: Introduction01:30

Aneurysm I: Introduction

498
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...
498

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs.

Molecular genetics and metabolism·2026
Same author

Transitioning from Laboratory-Developed Tests to a Single Commercial Reagent Kit in a National Newborn Screening Program: Impact on Analytical Performance and Harmonization.

International journal of neonatal screening·2026
Same author

Genotype Predicts Heart Failure Independent of LVEF, Peak VO<sub>2</sub>, and NT-proBNP Levels in Hypertrophic Cardiomyopathy.

JACC. Heart failure·2026
Same author

Treatment goals for adults with early treated PKU should be determined by evidence-based shared decision making between patients and their medical team.

Orphanet journal of rare diseases·2026
Same author

Uridine-responsive epileptic encephalopathy: Precision treatment across the age spectrum - a case series.

Seizure·2026
Same author

The Yield and Clinical Impact of Genetic Testing in Older Patients with Dilated Cardiomyopathy.

European journal of heart failure·2026

Related Experiment Video

Updated: Feb 21, 2026

Isolation and Excision of Murine Aorta; A Versatile Technique in the Study of Cardiovascular Disease
07:25

Isolation and Excision of Murine Aorta; A Versatile Technique in the Study of Cardiovascular Disease

Published on: November 24, 2014

34.4K

Isolated aortic root dilation in homocystinuria.

Massimiliano Lorenzini1,2, Nishan Guha3, James E Davison4

  • 1University College London Institute for Cardiovascular Science and Barts Heart Centre, St. Bartholomew's Hospital, London, UK.

Journal of Inherited Metabolic Disease
|October 6, 2017
PubMed
Summary

Patients with homocystinuria can develop aortic root dilation, similar to Marfan syndrome. This study found no ascending aorta involvement, suggesting isolated aortic root dilation in some homocystinuria patients.

More Related Videos

Isolation and Analysis of Aortic Arch and Root Lesions in an Atherosclerotic Mouse Model
07:49

Isolation and Analysis of Aortic Arch and Root Lesions in an Atherosclerotic Mouse Model

Published on: February 14, 2025

2.5K
A Rabbit Aortic Valve Stenosis Model Induced by Direct Balloon Injury
07:10

A Rabbit Aortic Valve Stenosis Model Induced by Direct Balloon Injury

Published on: March 31, 2023

1.6K

Related Experiment Videos

Last Updated: Feb 21, 2026

Isolation and Excision of Murine Aorta; A Versatile Technique in the Study of Cardiovascular Disease
07:25

Isolation and Excision of Murine Aorta; A Versatile Technique in the Study of Cardiovascular Disease

Published on: November 24, 2014

34.4K
Isolation and Analysis of Aortic Arch and Root Lesions in an Atherosclerotic Mouse Model
07:49

Isolation and Analysis of Aortic Arch and Root Lesions in an Atherosclerotic Mouse Model

Published on: February 14, 2025

2.5K
A Rabbit Aortic Valve Stenosis Model Induced by Direct Balloon Injury
07:10

A Rabbit Aortic Valve Stenosis Model Induced by Direct Balloon Injury

Published on: March 31, 2023

1.6K

Area of Science:

  • Cardiovascular Medicine
  • Metabolic Disorders
  • Genetics

Background:

  • Vascular complications are known in homocystinuria.
  • Ascending aorta involvement in homocystinuria has not been previously reported.

Purpose of the Study:

  • To investigate aortic root and ascending aorta involvement in patients with homocystinuria.

Main Methods:

  • Cross-sectional study of 34 homocystinuria patients.
  • Transthoracic echocardiogram used for evaluation.
  • Aortic root dilation defined by Z-score ≥ 2.0 SD.

Main Results:

  • 21% of patients (7/34) had aortic root dilation (mild, moderate, or severe).
  • No ascending aorta dilation was observed.
  • Two patients with moderate aortic root dilation had significant aortic regurgitation.

Conclusions:

  • A subset of homocystinuria patients exhibit isolated aortic root dilation.
  • This finding resembles the aortic root dilation seen in Marfan syndrome.