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.