Related Experiment Video
Updated: Jun 19, 2026
08:43
Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
Published on: May 31, 2016
Aortic stenosis and mucopolysaccharidosis.
Annals of Internal Medicine
|April 1, 1980
Summary
Severe aortic stenosis and Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) can cause cardiac disease. Aortic valve replacement offered a good long-term outcome for one patient, but family history suggests a genetic link to severe cardiac complications.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is a rare genetic disorder.
- Cardiac involvement, particularly aortic valve disease, is a known complication of mucopolysaccharidoses.
Observation:
- A 43-year-old male patient presented with severe aortic stenosis and Maroteaux-Lamy syndrome.
- The patient underwent successful aortic valve replacement with good long-term results.
- Family history revealed two brothers with mucopolysaccharidosis and aortic stenosis who died from cardiac disease.
Findings:
- This case highlights a potential genetic predisposition to severe cardiac complications in mucopolysaccharidosis type VI.
- Successful surgical intervention for aortic stenosis is possible in affected individuals.
- The literature review underscores the significant cardiac burden associated with mucopolysaccharidosis.
Implications:
- Early cardiac screening and intervention may be crucial for patients with Maroteaux-Lamy syndrome.
- Understanding the genetic basis of cardiac involvement can inform prognosis and management strategies.
- Further research into the specific mechanisms linking mucopolysaccharidosis to aortic disease is warranted.
Related Concept Videos
01:05Proteoglycans
Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
01:23Glycosaminoglycans
Glycosaminoglycans (GAGs), also known as mucopolysaccharides, are long and linear polymers comprising of specific repeating disaccharides - the amino sugar that can be N-acetylglucosamine or N-acetylgalactosamine, and a uronic acid that is usually glucuronic acid or iduronic acid.
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...
01:22Mitral 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...
01:26Mitral Stenosis III: Medical Management
Mitral stenosis, a condition marked by the narrowing of the mitral valve, necessitates an integrated approach for effective management. This approach includes preventative measures, medical therapy, and surgical interventions to reduce symptoms and prevent complications.PreventionPrevention of mitral stenosis primarily focuses on reducing the incidence of bacterial infections, particularly streptococcal infections, which can lead to rheumatic fever and subsequent valvular damage. Timely...
01:27Mitral Stenosis IV: Nursing Management
A comprehensive nursing assessment is essential for patients with valvular heart disease, which involves any dysfunction of the heart valves that could impact blood flow and overall heart function.Subjective Data Collection:Chief Complaint and Present Illness: Start with the patient's primary concerns, focusing on the onset, duration, and progression of cardiac symptoms such as dyspnea, fatigue, chest pain, and palpitations.Past Medical History: Collect detailed information on any previous...
01:30Aneurysm 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...