Table 4.

Imaging techniques in patients with suspected HCM.

Imaging techniques	Recommendations
Genetic testing	▪Genetic testing and counseling should be performed on all HCM patients. Genetic screening should be performed in all first-degree relatives of patients with a specific mutation.
Eletrocardiogram (ECG)	▪Initial evaluation and with worsening symptoms. It can also be performed as a screening of family members, every 12–18 months, when it does not identify the presence of ventricular hypertrophy on the initial echocardiogram.
Exercise testing	▪Assessment of functional capacity and therapeutic response; ▪Risk stratification for SCD; ▪Assessment of the systolic blood pressure; ▪Assessment of latent obstructive forms when associated with echocardiogram.
Ambulatory ECG monitoring	▪Recommended for risk stratification of SCD (e.g., ventricular tachycardia) and stroke (e.g., atrial fibrillation).
Transthoracic echocardiography	▪Diagnosis and monitoring of HCM patients. ▪Screening of family members in the absence of genetic mutation in the index case from 12 years old and repeated every 12–18 months. ▪Detection of systolic anterior motion of the mitral valve (SAM) with two-dimensional and M-echocardiography.
Cardiac magnetic resonance	▪Inadequate echocardiographic windows and poor myocardial segment visualization. ▪Additional assessment of hypertrophy (distribution and location) and anatomy of the mitral valve and detection of papillary muscle abnormalities. ▪Differential diagnosis of other heart diseases such as amyloidosis, Fabry disease and LAMP 2. ▪Detection of the presence of apical aneurysm. ▪Assessment of myocardial fibrosis for risk stratification for SCD.