Introduction:
Hypertrophic cardiomyopathy (HCM) is a cardiac condition that
is defined by hypertrophy of the left ventricle,
hypercontractility, decreased compliance, and poor relaxation (1-3). HCM
presents as a progressive and chronic condition that may become
devastating and life-changing, affecting the quality of life
dramatically. Chest pain, palpitations, exertional dyspnea, shortness of
breath, ankle swelling, fatigue, dizziness, lightheadedness, and syncope
are the most common symptoms identified (2-5). Sudden cardiac death
(SCD), Heart failure (HF), atrial fibrillation(AF), and stroke are all
related to HCM(6-8). Symptoms might be mistaken with those of other
diseases, and an accurate diagnosis may take years. The
assumed prevalence is approximately 1:500 adults (9), however only
around 100,000 among the estimated 700,000 HCM patients in the United
States have been diagnosed (10). Many asymptomatic HCM patients are
diagnosed accidentally or through screening (3). Clinical history
comprises a complete cardiac history and a 3-generation family history
for determining HCM or sudden death relatives (3, 11, 12). Functional
and fitness capacity assessment, focusing on training regimen and
exertion symptoms—chest pain, palpitations, dyspnea, and syncope (3,
13).
Significant advancement seems to have been achieved in comprehending
the disease from both genetic and clinical perspectives (14), although
methods of diagnosis have improved (15). Despite genotype
positive-phenotype negative people have not being included into HCM
prevalence estimations, these individuals are at an elevated risk of
acquiring the disease, however, the progression to clinically severe
disease remains unpredictable [8,9,10].
By improving timely treatment, proper prognostic classification,
and earlier diagnosis can allow for an overall decrease in
disease-related mortality/morbidity (16). When it was originally
discovered, HCM was considered to be an uncommon disease that largely
affected young people and had a poor prognosis due to the potential risk
for SCD (17, 18). Currently, it is understood that HCM may impact
patients of any age whereas the overall prognosis of a diagnosed HCM
patient is usually favorable, with about two-thirds enjoying an ordinary
lifespan with almost no morbidity and an average HCM-related mortality
that is approximately 0.7%/year (19-21). Some patients, however, are
at an elevated risk of SCD or developing atrial fibrillation (AF)/heart
failure (HF). As a result, identifying these individuals is a critical
priority (2, 22).
Echocardiography is the gold standard for HCM screening, diagnosis,
follow-up, and prognostic classification (2, 22, 23). Recent SCD risk
calculators authorized by the AHA and the ESC (2, 22), include
echocardiographic measures. Advanced echocardiographic techniques
(two-dimensional speckle tracking, tissue Doppler) are able to
distinguish HCM from different causes of hypertrophy and recognize
people who are susceptible to developing HF or SCD. 3D echocardiography
provides greater information about hypertrophic distribution, the
mechanism of dynamic LV obstruction, and LV mass (23).
Our study aims to explore the connection, between reported symptoms and
suspected HCM (Hypertrophic Cardiomyopathy) during echocardiographic
screening. While echocardiography is a tool we believe it could be more
useful if we can determine whether specific symptoms are linked to a
higher likelihood of detecting HCM. By understanding the relationship
between symptoms and suspected HCM we can improve risk assessment. Our
main objective is to contribute to the growing body of knowledge about
HCM, which will lead to more effective practices and earlier detection
of this life-threatening condition.