Marfan Syndrome and Aortic Stenosis

Questions and Answers

What is Marfan syndrome primarily a disorder of?

Blood cells

Connective tissues (correct)

Muscles

Nerves

What is the primary way to diagnose Marfan syndrome?

Through a routine blood test

By identifying elevated cholesterol levels

Incidentally during auscultation of mid-systolic clicks (correct)

Through an electrocardiogram showing bradycardia

What is a common symptom of aortic stenosis related to the increased demand of hypertrophied myocardial mass?

Coronary insufficiency

Syncope

Exertional dyspnea

Angina pectoris (correct)

What is a characteristic effect of aortic insufficiency?

Massive cardiac enlargement Signup and view all the answers

How much can the heart weigh in cases of aortic insufficiency?

As much as 1000 gm Signup and view all the answers

What is the primary reason for surgical valve replacement in severe symptomatic aortic stenosis?

Medical therapy is ineffective Signup and view all the answers

What is a common clinical feature of aortic stenosis?

Increasing pressure gradient across the calcified valve Signup and view all the answers

What does aortic stenosis typically produce in the left ventricle?

Concentric hypertrophy due to pressure overload Signup and view all the answers

What is a common cause of death in individuals with Marfan syndrome?

Rupture of aortic dissections and cardiac failure Signup and view all the answers

What happens to blood vessels in people with Marfan syndrome?

They become soft and billowy Signup and view all the answers

What is not a common complication of Marfan syndrome?

Chronic kidney disease Signup and view all the answers

What is the effect of Marfan syndrome on the aorta?

It becomes weaker and more prone to rupture Signup and view all the answers

What is the primary effect of Marfan syndrome on the heart?

It causes the heart to become weaker Signup and view all the answers

What is a common symptom of Marfan syndrome?

Shortness of breath Signup and view all the answers

What is the genetic basis of Marfan syndrome?

Autosomal dominant Signup and view all the answers

What is the main difference between Marfan syndrome and other connective tissue disorders?

The type of connective tissue affected Signup and view all the answers

What defect results in Marfan syndrome?

Fibrillin-1 Signup and view all the answers

Which mechanism contributes to the clinical manifestations of Marfan syndrome?

Loss of structural support in microfibril-rich connective tissue Signup and view all the answers

What is the major component of microfibrils in the extracellular matrix?

Fibrillin Signup and view all the answers

Where is the abundance of microfibrils particularly noted?

Aorta, ligaments, and ciliary zonules Signup and view all the answers

Which mutation is linked to Marfan syndrome?

Mutation of FBN1 Signup and view all the answers

What role does fibrillin-1 have in relation to TGF-β?

Controls its bioavailability Signup and view all the answers

Which skeletal abnormality is often associated with Marfan syndrome?

Spinal deformities Signup and view all the answers

What is a common ocular change in individuals with Marfan syndrome?

Ectopia lentis Signup and view all the answers

Study Notes

Marfan Syndrome

Caused by a defect in fibrillin-1, an extracellular glycoprotein essential for connective tissue integrity.
Clinical manifestations result from loss of structural support in microfibril-rich connective tissue.
Major component of microfibrils in the extracellular matrix is fibrillin.
Microfibrils are abundant in the aorta, ligaments, and ciliary zonules.
Mutation of the FBN1 gene is specifically associated with Marfan syndrome.
Fibrillin-1 regulates TGF-β by controlling its bioavailability.
Common skeletal abnormality includes spinal deformities.
Ectopia lentis is a typical ocular change linked to the syndrome.
Dilation of the ascending aorta is the most life-threatening cardiovascular lesion associated with Marfan syndrome.
Mitral valve leaflets may exhibit mid-systolic clicks during auscultation.

Aortic Stenosis

Features a pressure gradient increase across the calcified valve.
Exertional dyspnea arises from elevated pulmonary capillary pressure.
Concentric hypertrophy due to pressure overload is typical in the left ventricle.
Surgical valve replacement is indicated when medical therapy fails to alleviate severe symptoms.
Angina pectoris results from the increased demand of hypertrophied myocardial mass.

Aortic Insufficiency

Characterized by massive cardiac enlargement.
In extreme cases, the heart can weigh up to 1000 grams.

Heart Failure

Left-sided heart failure is primarily caused by systemic hypertension, mitral or aortic valve disease, ischemic heart disease, and cardiomyopathies.
Pulmonary congestion and edema are major pathological changes resulting from left-sided heart failure.
Symptoms of decreased left ventricular output include hypoperfusion and reduced oxygenation of tissues.
Right-sided heart failure is not linked to systemic hypertension but may result from cor pulmonale, pulmonary or tricuspid valvular disease, and pulmonary thromboembolism.
Systemic congestion and resultant symptoms such as subcutaneous edema are common in right-sided heart failure.
Passive congestion affects the liver during right-sided heart failure, leading to complications like portal venous congestion.

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Description

This quiz covers the causes, symptoms, and characteristics of Marfan Syndrome, a genetic disorder affecting connective tissue, and Aortic Stenosis, a heart valve condition.