What instrumental tests can be performed to evaluate the patient with Cardiomyopathy (CM)?
EXAMS with ECG
  • Electrocardiogram (ECG)

An ECG records the electrical signal generated by the heart and is done by applying up to 12 metal plates (electrodes) placed on the chest, wrists and ankles. In the CM the ECG is usually abnormal, perhaps with only minor changes, sometimes even before, for example, hypertrophy develops, in the Hypertrophic cardiomyopathy (HCM).

  • Dynamic ECG (Holter) (ECGD)

Allows continuous recording of theelectrocardiogram for 24/48 hours, and even more, if necessary, by means of a cassette recorder, which is worn attached to the neck. L'ECGD (also called Holter) highlights any irregular heartbeat (arrhythmias), which manifest themselves as palpitations, and are due to early beats (extrasystoles) or other arrhythmias, the most important being atrial fibrillation (FA) and non-sustained ventricular tachycardia (TVNS). In some cases it may demonstrate episodes of reduced oxygen supply to the heart (ischemia) that are associated with "angina".

  • Stress Test (TS)

Chest pain (angina), the development of a "gradient" in HCM, or of arrhythmia inducible by the effort and the possible efficacy of the therapy can be evaluated through a progressive effort that can be carried out on a bicycle (sitting or lying on a bed), or on the rotating carpet

  • Cardiopulmonary test (TCP)

Il TS it can also be performed simultaneously with measuring oxygen consumption and carbon dioxide production during progressive exertion (Cardiopulmonary or Cardiorespiratory test). In this way it is possible to verify how much the CM reduce the ability to exercise and limit the activities of the patient's daily or working life. TCP can also be associated with ECO o cardiac catheterization (see later)

 

EXAMS with IMAGES (Imaging)
  • Colordoppler Echocardiography ("ECHO")

THEECO it has been in use for about 50 years and has made it possible to “discover” CM easily. By means of ultrasound theECO produces an image of the heart in motion, and allows you to measure the thickness of the walls and how the walls move, whether the cavities (ventricles and atria) are normal, large or small. A part of the exam, called COLORDOPPLER, produces a color image, which represents the blood flow inside the heart and allows to evaluate not only if the heart valves are normal or altered but also to calculate the pressures inside the heart cavities (the difference in pressure between 2 zones is said gradient)

  • Cardiac Nuclear Magnetic Resonance (RMC)

in CM la RMC  allows to examine in detail the cardiac structures, in particular the walls and dimensions of the right ventricle (VD), hardly visible with ECO. With the contrast medium it is possible to highlight areas within the heart muscle that present "fibrosis“, Ie scars.

It has some limitations: the duration of the exam is long (from half an hour to 1 hour) and those with old pacemakers, automatic defibrillators, prostheses or pieces of metal cannot perform this investigation.

  • Cardiac catheterization

In patients with an uncertain diagnosis or who do not improve with medical therapy, it may be necessary to perform a catheterization cardiac. In this exam, a very thin tube (catheter) is passed through a vein or artery (from the arm) and pushed to the heart, with X-ray guidance. It allows to measure the pressures inside the heart and lungs, at rest or under exertion or pharmacological stimulus, to accurately evaluate the function of the left ventricle (VS) and any valve insufficiency

  • Coronarography and coronary angioTAC

For patients who have angina or threatening arrhythmias, it is necessary to visualize the coronary arteries by injecting a liquid (contrast medium) into a vein (Coronary AngioTAC), or in an artery in the wrist or groin (Coronarography). It can then be seen if these are obstructed or if congenital anomalies are present.

  • Electrophysiological study (SEF)

Il catheterization cardiac can also be performed to stimulate the heart and try to induce arrhythmia cardiac, to locate and observe any frequent arrhythmias (eg very frequent extrasystoles, atrial fibrillation or flutter, Sustained ventricular tachycardia). It is a rarely needed test, usually recommended in the minority of patients presenting arrhythmia frequent and / or severe or repeated fainting (Syncope). It can also be used to test the effectiveness of a Implantable Defibrillator, transvenous (T ICD) or subcutaneous (S-ICD)

  • Studies with radionuclides: Positron myocardial scintigraphy (PET) or bone tracer

La Scintigraphy with Thallium or Technetium is not indicated in patients with CM.

In some patients, especially with HCM ed angina, it may be useful to do a (scintigraphy myocardial with positrons, “PET") To evaluate the amount of maximal flow in the various sections of the heart, after pharmacological stimulation (usually" Dipyridamole "). Generally in patients with HCM this value is reduced, in some areas even markedly, where it has developed or is will develop the "fibrosis”, Ie a scarred area, which can be documented with RMC.

To distinguish one instead HCM from a'Transthyretin cardiac amyloidosis it is indicated to do one Myocardial scintigraphy with bone tracer.

 

What instrumental examinations should the family members of a patient with Cardiomyopathy (CM) do?

If you suspect the CM has a genetic origin, it is advisable to ascertain whether CM, even in a different or initial form, is present in first degree relatives (parents, brothers and / or sisters, children). In this case it is necessary to do both ECG than an exam "accurate" ECOCOLORDOPPLER (one of the two alone is not enough) at least every 3 years or so.

If, on the other hand, the genetic analysis has already identified the gene that caused the CM, together withECG ed ECO it is possible to search for the same gene in first degree relatives in adults. Children are usually expected to be 18 years old, unless they want to engage in competitive sports.