Question

What are the criteria for diagnosing hypertrophic cardiomyopathy?

1) Presence of unexplained left ventricular hypertrophy
2) Absence of any other cardiac or systemic disease that could account for the degree of hypertrophy
3) Presence of myocardial fibrosis on cardiac imaging
4) Presence of a pathogenic mutation in a gene encoding a sarcomere protein

Answer 1

The criteria for diagnosing hypertrophic cardiomyopathy include left ventricular hypertrophy, absence of other cardiac diseases, myocardial fibrosis, and presence of a pathogenic mutation in a sarcomere protein.

Step-by-step explanation:

The criteria for diagnosing hypertrophic cardiomyopathy include:

1. Presence of unexplained left ventricular hypertrophy: Hypertrophic cardiomyopathy is characterized by abnormal thickening of the heart muscle, particularly the left ventricle.
2. Absence of any other cardiac or systemic disease that could account for the degree of hypertrophy: Other potential causes for left ventricular hypertrophy, such as high blood pressure or aortic stenosis, should be ruled out.
3. Presence of myocardial fibrosis on cardiac imaging: Evidence of fibrosis or scarring in the heart muscle, seen on imaging tests like cardiac MRI or echocardiography, can support the diagnosis of hypertrophic cardiomyopathy.
4. Presence of a pathogenic mutation in a gene encoding a sarcomere protein: About 60-70% of hypertrophic cardiomyopathy cases are caused by mutations in genes encoding sarcomere proteins. Genetic testing can help identify these mutations.

While the presence of myocardial fibrosis on cardiac imaging may suggest hypertrophic cardiomyopathy, it is not a primary diagnostic criterion. Additionally, the presence of a pathogenic mutation in a gene encoding a sarcomere protein may be indicative of hypertrophic cardiomyopathy, as these are involved in the contractile apparatus of heart muscle cells. These diagnostic criteria are essential for distinguishing hypertrophic cardiomyopathy from other forms of cardiac hypertrophy that could be due to hypertension or aortic stenosis.