Symptoms and their origin

Most patients with hypertrophic cardiomyopathy are asymptomatic and the disease is often diagnosed either during a routine visit or during family screening. A minority may develop symptoms.

Dyspnea (breathlessness)

Dyspnea is the difficulty to breathe. The origin of breathlessness is multiple: it can be related to the difficulty of the heart muscle to relax properly (diastolic dysfunction), so that the blood stagnates upstream in the lungs; or to the presence of  left ventricular outflow tract obstruction, which can occur either at rest or during effort; in some cases the dyspnea is related to the reduced ability to pump blood (systolic dysfunction).  Several of these mechanisms can contribute to determining shortness of breath in the same patient. There are different therapeutic strategies (pharmacological and not) to improve the symptoms, depending on their origin. Usually dyspnea, or more generally functional limitation, is divided into 4 degrees according to the classification NYHA (New York Heart Association):

NYHA I: No symptom/no functional limitation

NYHA II: Light symptoms with slight limitation to ordinary physical activity

NYHA III: Major symptoms and severe limitation to ordinary physical activity

NYHA IV: Important symptoms even at rest

Chest Pain (angina)

Chest pain is a frequent symptom in patients with hypertrophic cardiomyopathy. It is described as a sense of oppression, a weight in the heart, sometimes as a stab, sometimes radiated to the jugular (the base of the neck). It can happen under stress (more commonly) or even at rest. The origin is related to insufficient blood supply to a thickened hypertrophic heart muscle, which therefore needs more energy than a normal heart. In addition, the small arteries that carry blood to the periphery of the heart are often thickened, small and therefore less suitable for transporting blood. In the presence of  left ventricular outflow tract obstruction, the pain is often caused by the enormous pressure inside the cardiac chambers, which increases the work of the heart and therefore the energy expenditure.

Fainting (syncope)

Fainting, or syncope, is defined as complete loss of consciousness, often with a fall to the ground. Some less severe episodes of a feeling of unconsciousness, without complete loss of consciousness, are defined as presyncope. They may or may not be preceded by premonitory symptoms ("prodromes"), such as nausea, yawning ("vagal" prodromes) or palpitations. Syncope can occur during exertion or rest, or be associated with certain situations (such as blood sampling, abrupt transition from lying down to standing - or orthostatic syncope) and can be vasovagal (a neuromediated process that causes blood pressure and heart rate to decrease suddenly). Sometimes syncope is related to the presence of left ventricular outflow tract obstruction and typically occurs during physical exertion. Syncope may also be secondary to arrhythmias and often occurs suddenly or through palpitations.

The origin of syncope can be difficult to determine, given the multiple mechanisms; it is very important to try to memorize the circumstances of the event, the triggers, the associated symptoms and the duration of the episodes.

Palpitations

Palpitations are an abnormal perception of your own heartbeat. Some patients may report sporadic abnormal beats (extrasystoles) or longer symptoms. Sometimes the heartbeat can be irregular and frequent, lasting minutes or hours and in these cases it is suggestive for atrial fibrillation. It is important to report any associated symptoms, such as pre-syncope or syncope.