Coronary arteriomegaly in a patient with Ehlers-Danlos syndrome and multiple aneurysms--a case report

Robert S Dieter1, Thomas Murtaugh, Jennifer Black

  • 1William S. Middleton Veterans Hospital, Madison, and University of Wisconsin-Madison, 53705, USA.

Angiology
|December 12, 2003
PubMed

Insights

This study presents a rare case of coronary arteriomegaly in a patient with Ehlers-Danlos syndrome and multiple aneurysms. The findings suggest a potential new vascular syndrome, distinct from known Ehlers-Danlos types.

Area of Science:

  • Cardiology
  • Genetics
  • Vascular Biology

Background:

  • Ehlers-Danlos syndrome is a group of inherited connective tissue disorders.
  • Vascular complications, including aneurysms and dissections, are known manifestations.
  • Coronary artery abnormalities are less commonly reported in Ehlers-Danlos syndrome.

Observation:

  • A patient with Ehlers-Danlos syndrome and multiple aneurysms presented with myocardial infarction.
  • Coronary arteriography showed distal vessel pruning without signs of occlusion.
  • Fibroblast cultures ruled out Ehlers-Danlos syndrome types IV and VII.

Findings:

  • The case exhibits coronary arteriomegaly, a significant dilation of coronary arteries.
  • The distal "pruning" pattern is unusual and not typical of obstructive coronary artery disease.
  • Genetic testing excluded specific, commonly associated Ehlers-Danlos syndrome subtypes.

Implications:

  • This case may represent a previously unrecognized vascular syndrome.
  • Further research is needed to characterize this potential new syndrome.
  • Understanding this condition could improve diagnosis and management of vascular complications in related genetic disorders.

Related Concept Videos

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...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
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...
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...
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...
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...