Noonan syndrome and aortic coarctation

Related Experiment Video

Updated: Oct 27, 2026

Modified Octopus Technique for Thoracoabdominal Aortic Aneurysm
04:56

Modified Octopus Technique for Thoracoabdominal Aortic Aneurysm

Published on: August 1, 2025

M C Digilio1, B Marino, F Picchio

  • 1Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.

American Journal of Medical Genetics
|November 7, 1998
PubMed

Insights

Aortic coarctation (AC), a congenital heart defect, is more common in Noonan syndrome (NS) than previously thought. This study found AC in 8.7% of NS patients, challenging prior assumptions about its rarity.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Noonan syndrome (NS) is frequently associated with congenital heart defects (CHDs).
  • Aortic coarctation (AC) has been considered rare in NS, with only three prior male cases reported.
  • AC is common in Ull-rich-Turner syndrome, a distinct aneuploidy disorder.

Purpose of the Study:

  • To investigate the actual prevalence of aortic coarctation (AC) in patients diagnosed with Noonan syndrome (NS).
  • To determine if AC is indeed a rare comorbidity in NS.

Main Methods:

  • Retrospective review of 184 propositi with Noonan syndrome and congenital heart defects.
  • Diagnosis of aortic coarctation was confirmed in the selected patient cohort.
  • Clinical characteristics and chromosomal status of affected patients were analyzed.

Main Results:

  • Aortic coarctation (AC) was diagnosed in 16 out of 184 (8.7%) patients with Noonan syndrome (NS).
  • The affected cohort included 11 males and 5 females, all with normal chromosomal karyotypes.
  • Familial occurrence of NS and AC was noted in one family, indicating a potential genetic link.

Conclusions:

  • Aortic coarctation (AC) is significantly more frequent in Noonan syndrome (NS) than previously reported.
  • The findings suggest AC should be considered a more common CHD in NS patients.
  • Further research into the genetic basis of AC in NS is warranted.

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

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...
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...
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...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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...
Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...