Related Experiment Video

Updated: Jun 17, 2026

Chronic Ovine Model of Right Ventricular Failure and Functional Tricuspid Regurgitation
08:43

Chronic Ovine Model of Right Ventricular Failure and Functional Tricuspid Regurgitation

Published on: March 17, 2023

Ochronosis as an unusual cause of valvular defect: a case report

Andreas Wilke1, Dietmar Steverding

  • 1Kardiologische Praxis Papenburg, Papenburg, Germany.

Journal of Medical Case Reports
|January 12, 2010
PubMed

Insights

Alkaptonuria, a genetic disorder causing homogentisic acid buildup, can lead to valvular heart disease. Early diagnosis of cardiovascular ochronosis allows for conservative treatment to manage valve dysfunction.

Area of Science:

  • Genetics
  • Cardiology
  • Metabolic Disorders

Background:

  • Alkaptonuria ( ochronosis) is a rare genetic disorder characterized by homogentisic acid accumulation in connective tissues.
  • In some cases, ochronosis can manifest as valvular heart disease, affecting heart valve function.

Purpose of the Study:

  • To present a case of alkaptonuria-associated degenerative valvular defects.
  • To highlight the importance of early diagnosis and conservative management of cardiovascular ochronosis.

Main Methods:

  • Case report of a 68-year-old Caucasian male with alkaptonuria.
  • Evaluation of degenerative valvular defects including aortic, mitral, and tricuspid valve insufficiency.
  • Diagnosis based on clinical presentation of a new heart murmur.

Main Results:

  • The patient presented with significant valvular insufficiency (aortic, mitral, tricuspid) due to alkaptonuria.
  • Cardiac complaints were absent despite the presence of valvular defects.

Conclusions:

  • Cardiovascular ochronosis can develop in patients with alkaptonuria.
  • Early detection of valvular dysfunction in ochronosis enables conservative treatment strategies.
  • Prompt diagnosis can slow the progression of valvular dysfunction in alkaptonuria patients.
Abstract

Related Concept Videos

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...
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...
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 Regurgitation I: Introduction01:20

Mitral Regurgitation I: Introduction

Mitral regurgitation is characterized by the backward circulation of blood from the left ventricle to the left atrium during systole, a phase of the cardiac cycle when the heart contracts and pumps blood out of the chambers. This abnormal flow occurs primarily due to the dysfunction of the mitral valve or its supporting structures, which include the mitral leaflets, chordae tendineae, annulus, and papillary muscles.Etiology and Mechanisms:Primary Mitral Regurgitation: This type arises from...
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:
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...