Physical Examination
The examination of a patient with hypertrophic cardiomyopathy can be completely negative. Often there is a "heart murmur", an added noise related to the acceleration of blood flow inside the heart (often, but not necessarily, secondary to left ventricular outflow tract obstruction). In advanced cases of disease, signs of heart failure may appear (swollen legs - sloping edemas, water in the lungs - crackles, etc.). The specialist should also pay attention to any signs that may point to rare diseases that mimic sarcomeric hypertrophic cardiomyopathy.
Electrocardiogram (ECG)
The ECG detects the electrical activity of the heart through the use of electrodes that are placed on the chest and along the limbs. It is altered in most (>95%) patients with hypertrophic cardiomyopathy, and sometimes electrocardiographic abnormalities can precede the development of cardiac hypertrophy visible at the echocardiogram. The ECG is often markedly altered (this does not necessarily correlate with the severity of the disease) and can mimic the ECG of those who have had or are having a heart attack.
Echocardiogram
This is the first-line imaging method. It is a safe, non-invasive test that uses ultrasound to visualize the anatomy and function of the heart. It allows accurate measurement of cardiac wall thickness and heart chamber sizes and precise evaluation of blood flow and valve function. It can measure the pressure difference at the level of the left (and right) ventricular outflow tract, both in resting basal conditions and after certain manoeuvres (such as the Valsalva - forced exhalation with closed glottis - or the assumption of an upright position). In some cases it is possible to perform an exercise echocardiogram to assess the presence of the left ventricular outflow tract obstruction during exercise.
Cardiac Magnetic Resonance Imaging
In the last 10 years, Cardiac Magnetic Resonance (CMR) Imaging has emerged as an imaging modality of considerable importance in the management of patients with hypertrophic cardiomyopathy. It is a non-invasive examination that does not use ionizing radiation, and is therefore very safe. There are some contraindications to the examination (presence of not-MRI compatible pacemakers/defibrillators, severe claustrophobia, etc.). The CMR represents the gold standard for the calculation of cardiac volumes and mass, allows a three-dimensional visualization of the heart and has an excellent image definition. In addition, through the use of a contrast medium, it allows to detect fibrosis (scar tissue) within the cardiac walls, which can not be detected with other imaging modalities such as echocardiography. Being a very sophisticated examination, it is essential that it is performed in specialized centers.
Exercise test
Carried out by means of a bicycle or rotating mat, it is used to assess functional capacity, to document any exercise-related arrhythmias and the behavior of blood pressure and heart rate during physical exercise. During exercise, gaseous exchanges at the pulmonary level can also be calculated (in particular the V02 max, which represents the maximum amount of oxygen consumed) - by means of the cardiopulmonary test, and the presence of dynamic left ventricular outflow tract obstruction by means of an exercise echocardiogram.
Holter ECG
It represents the recording of cardiac electrical activity, usually for 24 or 48 hours. It is used to record any arrhythmias that, even if asymptomatic and of short duration, can be useful in the risk stratification. It can also detect phases of slow heartbeat or pauses (bradyarrhythmias) or phases of atrial fibrillation. It is performed at the initial assessment and then periodically, according to the Doctor.
Myocardial perfusion scintigraphy
It is a nuclear medicine examination that allows to study the perfusion of the heart, to assess if enough blood arrives to the heart muscle. It may be required in patients with chest pain, if it is suspected that there is a coronary arteries disease (which are the arteries that give blood supply to the heart muscle).
Coronarography and Cardiac Catheterization
It is an invasive examination, which uses radiation and is performed by carrying small catheters from the peripheral arteries (usually from the arm or groin) to the heart, injecting iodine contrast medium to visualize the coronary arteries (coronarography) or the left ventricular chamber (ventriculography). In addition, pressures inside the various cardiac chambers (cardiac catheterization) can be measured with special catheters to obtain important information on functional aspects, in particular to invasively measure the pressure gradient at the level of the left ventricular outflow tract. Echocardiography is usually sufficient to give all the information on the functional status of the heart. These invasive examinations are used to exclude coronary artery disease as a cause of symptoms and to measure precisely the pressures inside the cardiac cavities, or as a pre-operative examination (myectomy). These examinations are performed under local anesthesia.
Electrophysiological Study
It is an invasive examination that, through catheters placed in the heart through peripheral veins and/or arteries, detects the electrical activity of the heart. It allows to study the arrhythmias and, in some cases, to treat them. It is requested in selected cases of patients with hypertrophic cardiomyopathy.
