cardiovascular disorders
Hypertrophic Cardiomyopathy
Diagnosis of Hypertrophic Cardiomyopathy
Clinical suspicion (syncope, other symptoms, or murmur) Echocardiography and/or MRI Diagnosis is suspected based on a typical murmur and symptoms. Suspicion is increased if the patient has a history of unexplained syncope or a family history of unexplained sudden death. Unexplained syncope in young athletes should always raise suspicion. Hypertrophic cardiomyopathy must be distinguished from Aortic Stenosis and ECG and 2-dimensional echocardiography and/or MRI (the best noninvasive confirmatory tests) are done. Chest x-ray is often done but is usually normal because the ventricles are not dilated (although the left atrium may be enlarged). Exercise testing and 24-hour ambulatory monitoring may be helpful for patients considered at high risk, although accurately identifying such patients is difficult. Patients with syncope or sustained arrhythmias should be evaluated as inpatients. The Electrocardiography usually shows voltage criteria for LV hypertrophy (eg, S wave in lead V1 plus R wave in lead V5 or V6 ) and quantify the severity of hypertrophy and degree of outflow tract obstruction. These measurements are particularly useful for monitoring the effect of medical or surgical treatment. Midsystolic closure of the aortic valve sometimes occurs when outflow tract obstruction is severe. Ambulatory 24-hour monitoring is recommended during the initial evaluation and every 1 to 3 years to assess risk of sudden cardiac death and help guide treatment of arrhythmias ( Diagnosis reference ). Cardiac catheterization is usually done only when invasive therapy is considered. Usually, no significant stenoses are present in the coronary arteries, but older patients may have coexisting coronary artery disease. Genetic markers do not identify high-risk individuals or influence treatment. However, genetic testing may be of benefit in screening family members. 1.Maron BJ, Desai MY, Nishimura RA, et al. Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review.J Am Coll Cardiol2022;79(4):372-389. doi:10.1016/j.jacc.2021.12.002 