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Showing posts with label Hypertrophic cardiomyopathy. Show all posts
Showing posts with label Hypertrophic cardiomyopathy. Show all posts

What do you know about the genetics of hypertrophic cardiomyopathy ?

What do you know about the genetics of hypertrophic cardiomyopathy ? 

• Hypertrophic cardiomyopathy is an autosomal dominant heart muscle disorder.

• Mutations in the gene encoding contractile proteins cause disease in 50-60'7c of patients.

• There are mutations in the gene encoding for myofibrillary proteins: at least 9 individual genes have been identified.

Beta heavy chain myosin gene mutations are associated with left ventricular outflow obstruction, whereas troponin T mutations are associated with rather modest left ventricular wall thickening, and mutations in myosin binding protein C are associated with onset in late adult life. Arginine gene mutations have a worse prognosis than leucine gene mutations.
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Which condition has the most common association with hypertrophic cardiomyopathy ?

Which condition has the most common association with hypertrophic cardiomyopathy ? 

Friedreich's ataxia.
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What is the most characteristic pathophysiological abnormality in hypertrophic cardiomyopathy ?

What is the most characteristic pathophysiological abnormality in hypertrophic cardiomyopathy ? 

Diastolic dysfunction.
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What are the complications of hypertrophic cardiomyopathy ?

What are the complications of hypertrophic cardiomyopathy ?

• Sudden death.
• Atrial fibrillation.
• Infective endocarditis.
• Systemic embolization.
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