What tests are needed for hypertrophic cardiomyopathy?

  There are two main categories: cardiac-related tests and genetic tests.  Cardiac examinations include electrocardiogram, cardiac ultrasound, exercise stress test and cardiac magnetic resonance examination. ECG includes 12-lead ECG and 24-hour ambulatory ECG, which mainly look at the heart rhythm and heart rate; ultrasound includes transthoracic ultrasound and transesophageal ultrasound, if the uncaused ventricular wall thickness is found to be greater than or equal to 15 mm or more (2 standard deviations greater than children of the same age in pediatric patients), the diagnosis can be basically confirmed, and patients who can be diagnosed by transthoracic ultrasound do not need to routinely do transesophageal ultrasound. If the ultrasound is only suspicious and the diagnosis cannot be confirmed, cardiac MRI is needed. Exercise stress test can help diagnose patients with occult left ventricular outflow tract obstruction, determine the effect of treatment and evaluate the prognosis. The above tests are usually done once a year and do not need to be repeated within a year.  Genetic testing includes the patient himself or herself and immediate family members. If genotype-positive/phenotype-negative patients are identified (i.e., mutation carriers), annual cardiac-related testing is required because carriers have a 95% lifetime risk of becoming patients with hypertrophic cardiomyopathy; once carriers develop clinical manifestations (become patients), a sudden cardiac death risk rating is required.