Discussion:
We investigated the link between reported symptoms and suspected HCM in our study. The findings are remarkable because they call into question what we thought we knew and provide light on how difficult it can be to diagnose this disorder. In summary, 1.1% of the population had suspected HCM. Physical symptoms were not associated with HCM (chest pain in 4.3% of participants vs. 9.9% of the control, p=0.19, palpitation in 4.3% vs. 7.3%, p=0.41, shortness of breath in 6.4% vs. 11.7%, p=0.26, lightheadedness in 4.3% vs. 13.1%, p=0.07, ankle swelling in 2.1% vs. 4.0%, p=0.52, dizziness According to our findings, several physical symptoms such as chest pain, palpitations, shortness of breath, lightheadedness, ankle edema, and dizziness do not correlate with the existence of HCM, as validated by echocardiography. This discovery has far-reaching implications for HCM diagnosis and management.
The primary takeaway from our research is that symptoms linked with HCM should not be used to as the main, primary, and only way of diagnosing the disease. Rather, our data indicate that a comprehensive screening and diagnostic approach is required, and also it was presented that cardiac imaging is used to make diagnoses and clinical recommendations for HCM patients (3), while echocardiography is the primary imaging modality for the majority of patients (3), Cardiac Magnetic Resonance (CMR) imaging can enhance or replace it in unclear cases, additionally imaging can confirm (or rule out) alternative diagnoses, assess phenotypic severity, and identify structural cardiac abnormalities (e.g., valvular, systolic, and diastolic function) through the American College of Cardiology/American Heart Association recommendation in 2020 by Ommen et al.(3). This conclusion is significant given the prevalence of HCM in the population and the possible hazards of sudden cardiac death, furthermore, HCM contributed to one in every thirty SCAs among the young and middle-aged overall population, resulting in a yearly SCA prevalence ranging from 0.2% to 0.3% in unselected HCM patients in the community through study by Aro et al.(25) in 2017. The preliminary diagnosis of HCM had been missed in the great majority of SCA cases prior to cardiac arrest (25). The low predicted risk of SCA among young together with middle-aged HCM patients, on the other hand, demonstrates the disease’s generally benign course in the great majority of people who are affected (25), and also it was claimed in large clinic population studies performed by Cannan et al. (26) and Kofflard et al. (27), Unfortunately, SCD continues to be of considerable concern. It could be the disease’s earliest symptom, especially in competitive and young athletes which were declared in a large registry study over US conducted by B. J. Maron et al. (28), and accompanying consequences even in individuals with no obvious symptoms, in the context of the situation that a substantial portion of HCM patients have been discovered to have asymptomatic or the least potential symptoms if their echocardiogram confirmed HCM disease which was conducted by Udelson et al(29). and O’Gara et al. (30), although through retrospective cohort in 2017 by Rowin et al.(31) this point declared that the majority of patients (70%) seemed asymptomatic or slightly symptomatic according to New York Heart Association (NYHA) classifications one and two (31), also in a large community-based study have done by Kofflard et al.(32) in 2003 (44%) of patients were asymptomatic (32).
Because this disorder can run in families, screening those with a family history of HCM or those who have SCD is critical. While family history is still used in screening, our research demonstrates that focusing solely on symptoms is not a reliable method of identifying persons with HCM.  In studies conducted by Miller et al. (33) in 2013 and Tomašov et al. (34) in 2014, It was demonstrated that HCM patients and relatives verified the value of genetic testing according to the management of close relatives and discovered that the suggested echocardiographic parameters had only a limited advantage for recognizing causes of disease mutation carriers (33, 34). In terms of detection and screening, echocardiography is the gold standard (2, 22, 23). Our findings highlight the need to use echocardiography to confirm HCM in people who have symptoms of the illness. Echocardiography is a reliable approach for detecting HCM (3). It is critical in avoiding delayed or inaccurate diagnoses (3, 25).
In the screening, diagnosis, follow-up, and prognostic categorization of HCM, echocardiography is considered to be the gold standard (2, 22, 23). Recent risk calculators for SCD that have been approved by the AHA and the ESC (2, 22) contain echocardiographic measures. Innovative echocardiographic techniques, such as two-dimensional speckle tracking and tissue Doppler, are able to differentiate hypertrophy caused by HCM from that caused by other conditions and identify individuals at risk of developing HF or SCD. A greater amount of information can be obtained using 3D echocardiography about hypertrophic distribution, the cause of dynamic LV obstruction, and LV mass (23).
When identifying HCM with echocardiography, we focus on a set of symptoms rather than just looking at symptoms, which is an important part of our study. This method allows us to assess how symptoms and disease are related, which increases the importance of our research. It provides insight into whether or not various symptoms are associated with HCM.
In contrast to previous studies, our study takes into account a wide variety of ages has a big sample size, and represents that the participants ranged in age from 4 to 74 years old, with the majority of them being 18, 16, and 17 years old. There were fewer African-Americans than other races, and there were more men than women, although HCM is age dependant and might include racial/ethnic disparities depending on whether clinically or subclinical evident instances are evaluated (35). However, in a study done by Maron et al.(10) in 20 the mean age of HC diagnosis was about the fifth decade of life, with women constituting 43% of the overall HC cohort(10),  This increases the applicability and relevance of our findings to patient populations. Taking this approach allows us to acquire a better understanding of the relationship between symptoms and HCM, providing useful insights for distinct patient groups.
Because of the overlap of symptoms with systemic diseases, diagnosing HCM can be difficult. Symptoms such as chest pain, palpitations, shortness of breath, lightheadedness, ankle swelling, and dizziness can be caused by a variety of illnesses, some of which are benign. This overlapping symptomatology can make it difficult to diagnose HCM quickly. The highlighted importance of metabolic storage disorders or inborn errors of metabolism (IEM)  such as Glycogen storage disorders including Danon disease,PRKAG2 cardiomyopathy,Pompe disease (glycogen storage disease type 2),and Forbes disease (glycogen storage disease type 3), also lysosomal storage disorders like Anderson-Fabry disease, furthermore mitochondrial cytopathies, cardiac amyloidosis that could mimic HCM (‘HCM phenocopies’) (36, 37).
The most prevalent symptoms are chest pain and dyspnea (38). Due to diastolic dysfunction, elevated LV end-diastolic pressure can produce dyspnea, especially during exercise (38). Myocardial hypoperfusion and oxygen demand can induce chest pain. Palpitations are prevalent and can cause syncope and dizziness (38). Syncope is rare but serious because it commonly precedes SCD. (32, 39). However, through a case report by Elsouri et al. (40) in 2023, the two-dimensional technique failed to capture septal hypertrophy many times (40). In this scenario, three-dimensional methods like cardiac MRI showed enhanced sensitivity and specificity. In patients between 40 and 70 with, dizziness, dyspnea on exertion (DOE), and chest pain, the HCM should be considered, and cardiac MRI should be performed if symptoms recur after TTE imaging shows no abnormalities (40), according to the only study conducted on a case report in 2023 (40), our study, due to the large sample size examined, its results are very important for clinical experts in diagnosis and treatment and potentially a great help to the health-policy makers to formulate Early detection and screening programs will prevent mortality and complications of HCM.
Our discoveries have consequences. The fact that these common symptoms do not always signal the presence of HCM highlights the importance of a screening approach. Symptoms alone may not be sufficient, and further measures such as screening or regular echocardiograms for at-risk patients may be required. Individuals may remain asymptomatic until they are discovered through screening or when consequences occur in some cases. This emphasizes the significance of complete screening for those who are at risk even in the absence of symptoms.