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Questions and Answers
What is Marfan syndrome primarily a disorder of?
What is Marfan syndrome primarily a disorder of?
- Blood cells
- Connective tissues (correct)
- Muscles
- Nerves
What is the primary way to diagnose Marfan syndrome?
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?
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?
What is a characteristic effect of aortic insufficiency?
How much can the heart weigh in cases of aortic insufficiency?
How much can the heart weigh in cases of aortic insufficiency?
What is the primary reason for surgical valve replacement in severe symptomatic aortic stenosis?
What is the primary reason for surgical valve replacement in severe symptomatic aortic stenosis?
What is a common clinical feature of aortic stenosis?
What is a common clinical feature of aortic stenosis?
What does aortic stenosis typically produce in the left ventricle?
What does aortic stenosis typically produce in the left ventricle?
What is a common cause of death in individuals with Marfan syndrome?
What is a common cause of death in individuals with Marfan syndrome?
What happens to blood vessels in people with Marfan syndrome?
What happens to blood vessels in people with Marfan syndrome?
What is not a common complication of Marfan syndrome?
What is not a common complication of Marfan syndrome?
What is the effect of Marfan syndrome on the aorta?
What is the effect of Marfan syndrome on the aorta?
What is the primary effect of Marfan syndrome on the heart?
What is the primary effect of Marfan syndrome on the heart?
What is a common symptom of Marfan syndrome?
What is a common symptom of Marfan syndrome?
What is the genetic basis of Marfan syndrome?
What is the genetic basis of Marfan syndrome?
What is the main difference between Marfan syndrome and other connective tissue disorders?
What is the main difference between Marfan syndrome and other connective tissue disorders?
What defect results in Marfan syndrome?
What defect results in Marfan syndrome?
Which mechanism contributes to the clinical manifestations of Marfan syndrome?
Which mechanism contributes to the clinical manifestations of Marfan syndrome?
What is the major component of microfibrils in the extracellular matrix?
What is the major component of microfibrils in the extracellular matrix?
Where is the abundance of microfibrils particularly noted?
Where is the abundance of microfibrils particularly noted?
Which mutation is linked to Marfan syndrome?
Which mutation is linked to Marfan syndrome?
What role does fibrillin-1 have in relation to TGF-β?
What role does fibrillin-1 have in relation to TGF-β?
Which skeletal abnormality is often associated with Marfan syndrome?
Which skeletal abnormality is often associated with Marfan syndrome?
What is a common ocular change in individuals with Marfan syndrome?
What is a common ocular change in individuals with Marfan syndrome?
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.
