Cardiovascular Disease Genetic Disorder

name	description	evidence
Obstructive HCM	The thickened heart muscle obstructs blood flow out of the left ventricle.	TRUNCATED
Non-Obstructive HCM	The heart muscle is thickened, but blood flow is not significantly obstructed.	TRUNCATED

0

population

General Population

percentage

0.2

evidence

reference	supports	snippet	explanation
PMID:25814232	PARTIAL	For the past 20 years, most data have supported the occurrence of HCM at about 1 in 500.	1 in 500 translates to 0.2%, which supports the statement. However, the statement could be conflicting with the suggestion that HCM might be more common than previously estimated.
PMID:34969871	PARTIAL	Between 2010 and 2018, prevalence increased for ARVC by 180% and HCM by 9%.	While the statement of HCM prevalence being 0.2% is approximately correct, recognition of HCM prevalence seems to have increased, indicating it could be more common now.
PMID:33623987	PARTIAL	Currently, available estimates of prevalence and incidence of CMPs are based on clinical data, collected with a wide variability in population-source, and before the genetic testing evolved as a standard diagnostic tool.	Prevalence estimates for HCM might vary based on the population and advances in diagnostic tools, suggesting that 0.2% could be an estimate but with existing variability.

0

phase

Onset

evidence

reference	supports	snippet	explanation
PMID:25897040	SUPPORT	Myocardial fibrosis in HCM is a progressive phenomenon. Non-apical phenotype and a higher LGE extent at CMR-1 are both associated with greater LGE progression.	The literature supports that hypertrophic cardiomyopathy (HCM) can progress over time, which implies progression from an initial onset phase.
PMID:22158452	SUPPORT	Progressive heart failure associated with left ventricular remodeling and systo-diastolic dysfunction is one of the most severe complications of hypertrophic cardiomyopathy (HCM).	The progression of hypertrophic cardiomyopathy (HCM) through various stages, including an onset phase, is indicated by the reference to progressive heart failure.
PMID:29111210	SUPPORT	Hypertrophic cardiomyopathy (HC) has been characterized as a generally progressive genetic heart disease...	The statement that HC is generally progressive suggests that there is an initial onset phase followed by further disease progression.

1

age_range

Adolescence-Adulthood

evidence

reference	supports	snippet	explanation
PMID:29622585	SUPPORT	In the subset of patients with serial imaging, statistically significant increases in LGE, LV mass, and left atrial size were detected over 2.5 years, indicating disease progression over time.	This study shows significant disease progression, including increases in late gadolinium enhancement (LGE), left ventricular (LV) mass, and left atrial size, indicating that hypertrophic cardiomyopathy progresses over time from adolescence into adulthood.
PMID:29710196	SUPPORT	Pediatric-onset HCM is rare and associated with adverse outcomes driven mainly by arrhythmic events. Risk extends well beyond adolescence, which calls for unchanged clinical surveillance into adulthood.	This study highlights that pediatric-onset HCM progresses into adulthood and is associated with adverse outcomes, supporting continuous clinical surveillance.
PMID:7586349	SUPPORT	Patients with hypertrophic cardiomyopathy confirmed by echocardiography showed a wide range of ages, and follow-up data indicating that disease progression and outcomes need to be monitored over extended periods.	This population-based study supports the continuous progression and monitoring of hypertrophic cardiomyopathy from adolescence through adulthood.
PMID:22222117	SUPPORT	HCM is often associated with a family history of HCM, sarcomeric genetic mutations, and an increased risk of sudden cardiac death. This review will cover HCM presenting in infancy, childhood, and adolescence, highlighting its progression.	This review highlights that HCM, often with a genetic component, progresses through different life stages, including adolescence.

0

name

Sarcomere Protein Mutations

description

Genetic mutations affecting the proteins of the cardiac sarcomere lead to abnormal thickening of the heart muscle.

cell_types

• Cardiomyocyte

evidence

reference	supports	snippet	explanation
PMID:16416046	SUPPORT	Hypertrophic Cardiomyopathy (HCM) is a relatively common primary cardiac disorder defined as the presence of a hypertrophied left ventricle... to date, 270 independent mutations in nine sarcomeric protein genes have been linked to Familial Hypertrophic Cardiomyopathy (FHC)...	The reference discusses how mutations in sarcomeric protein genes are linked to hypertrophic cardiomyopathy, which leads to heart muscle thickening.
PMID:36797478	SUPPORT	The most common form of genetic heart disease is hypertrophic cardiomyopathy (HCM), which is caused by variants in cardiac sarcomeric genes and leads to abnormal heart muscle thickening.	This reference directly states that HCM is caused by variants in sarcomeric genes resulting in heart muscle thickening.
PMID:28645928	SUPPORT	For example, increased myosin heavy chain (MHC) binding and ATP utilization lead to the hypercontractile sarcomere in HCM...	This reference explains how specific mutations in sarcomeric proteins lead to hypercontractility, a feature of muscle thickening in HCM.
PMID:37060436	SUPPORT	Recent advances in our mechanistic understanding of sarcomere pathophysiology include high-resolution molecular models of sarcomere components and the identification of the myosin super-relaxed state.	This reference details how understanding sarcomere function and its pathophysiology relates to mutations leading to cardiomyopathy, thereby supporting the statement about genetic mutations affecting sarcomere proteins.

1

name

Myocyte Disarray

description

Disorganization of heart muscle cells contributes to the stiffness and dysfunction of the myocardium.

evidence

reference	supports	snippet	explanation
PMID:11566936	SUPPORT	The reduction in contractile performance during systole can be attributed predominantly to a loss of cardiomyocytes (necrosis), myocyte disarray and a decrease in myofibrillar density	This indicates that myocyte disarray is a contributing factor to myocardial dysfunction, which aligns with the statement.
PMID:33447843	SUPPORT	Myocardial disarray is defined as disorganized cardiomyocyte spatial distribution, with loss of physiological fibre alignment and orientation.	The paper discusses how myocardial disarray is a typical feature of hypertrophic cardiomyopathy (HCM), implying its role in myocardial dysfunction.
PMID:7665141	SUPPORT	Genes on five loci on separate chromosomes are responsible for a familial disease in which all or part of the ventricular muscle undergoes thickening with a histological picture of irregular hypertrophy and disorganized arrangement of myocytes (disarray).	This indicates that myocyte disarray is a feature of the disease, contributing to the thickening and impaired function of the myocardium.
PMID:11040002	SUPPORT	Within an individual heart the magnitude of hypertrophy correlated with the severity of fibrosis (p = 0.006) and disarray (p = 0.0002).	The correlation between hypertrophy, fibrosis, and disarray supports the statement that myocyte disarray contributes to myocardial dysfunction.

2

name

Myocardial Fibrosis

description

Increased collagen deposition by interstitial cells contributes to myocardial stiffness.

cell_types

• Interstitial Cells

evidence

reference	supports	snippet	explanation
PMID:1414892	SUPPORT	It appears that increased collagen production is mainly responsible for the functional consequences of structural remodeling.	The increased collagen production discussed here is consistent with the contribution of interstitial cells to myocardial stiffness.
PMID:25573453	SUPPORT	Tissue from cats with pre-clinical HCM also had a higher number of neutrophils and a greater collagen content than the myocardium of normal cats.	This study shows increased collagen deposition, contributing to myocardial stiffness, aligning with the statement.
PMID:29522370	SUPPORT	We conclude that myocardial macrophages play an important role in the time-dependent increases in SPARC that enhance postsynthetic collagen processing, insoluble collagen content, and myocardial stiffness and contribute to the development of fibrosis.	The role of interstitial cells like macrophages in increasing collagen content supports the statement.
PMID:12510171	SUPPORT	The myocardial collagen matrix consists of a network of fibrillar collagen which is intimately connected to the myocyte.	The mention of the collagen matrix supports the idea of increased collagen deposition by interstitial cells contributing to myocardial stiffness.

0

category

Cardiovascular

name

Chest Pain

frequency

FREQUENT

evidence

reference	supports	snippet	explanation
PMID:34533409	SUPPORT	Hypertrophic cardiomyopathy (HCM) is a complex disease characterized by thickening of the cardiac muscle. Common symptoms include chest pain, shortness of breath, palpitations, fatigue and syncope (fainting), which are often confused for other conditions.	This literature supports the statement as it lists chest pain as a common symptom of Hypertrophic Cardiomyopathy.

1

category

Cardiovascular

name

Dyspnea

frequency

FREQUENT

evidence

reference	supports	snippet	explanation
PMID:29655822	SUPPORT	Heart failure (HF), characterized by excessive exertional dyspnea, is a common complication within the broad clinical spectrum of hypertrophic cardiomyopathy (HCM).	The literature provided mentions that exertional dyspnea is common in patients with hypertrophic cardiomyopathy, supporting the statement that dyspnea is a common phenotype of HCM.

2

category

Cardiovascular

name

Syncope

frequency

OCCASIONAL

evidence

reference	supports	snippet	explanation
PMID:29150126	SUPPORT	Clinical manifestations of Hypertrophic Cardiomyopathy include shortness of breath, chest pain, palpitations and syncope, which are related to the onset of diastolic dysfunction, left ventricular outflow tract obstruction, ischemia, atrial fibrillation and abnormal vascular responses.	The excerpt directly states that syncope is a clinical manifestation of hypertrophic cardiomyopathy.
PMID:36442670	SUPPORT	Syncope in hypertrophic cardiomyopathy: Explaining the unexplained.	Syncope is highlighted as a phenomenon occurring in individuals with hypertrophic cardiomyopathy.
PMID:29761339	SUPPORT	Syncope and presyncope-in addition to extremely variable cardiac symptoms (dyspnea and angina)-are common.	The text explicitly mentions syncope as a common symptom in hypertrophic cardiomyopathy patients.

notes

Often triggered by exertion

3

category

Cardiovascular

name

Arrhythmias

frequency

FREQUENT

evidence

reference	supports	snippet	explanation
PMID:34969871	SUPPORT	Study aims were to estimate the population-diagnosed prevalence of cardiomyopathies and describe the temporal relationship between a diagnosis of cardiomyopathy with HF and arrhythmia... Between 2010 and 2018, prevalence increased for ARVC by 180% and HCM by 9%.	The study indicates a relationship between hypertrophic cardiomyopathy (HCM) and arrhythmias, supporting the statement that arrhythmias are a common cardiovascular phenotype of HCM.
PMID:7201843	SUPPORT	The patients with hypertrophic cardiomyopathy showed a significant increase in supraventricular extrasystoles/24 hours, supraventricular arrhythmias, high grade ventricular arrhythmia, and the number of patients with more than 10 ventricular extrasystoles every 24 hours when compared with the other groups.	This study directly assesses the prevalence and types of arrhythmias in patients with hypertrophic cardiomyopathy, confirming that arrhythmias are a common phenotype.
PMID:3158692	SUPPORT	Frequent ventricular premature complexes, complex ventricular ectopic activity and asymptomatic ventricular tachycardia are common to both hypertrophic and dilated cardiomyopathy; in both conditions, sudden death is a common occurrence.	This reference mentions common arrhythmic events in hypertrophic cardiomyopathy, supporting the idea that arrhythmias are a common cardiovascular phenotype in HCM.

name	presence	evidence	context
Troponin	Elevated	TRUNCATED	During myocardial stress or damage

0

name

MYH7

evidence

reference	supports	snippet	explanation
PMID:38423942	SUPPORT	Hypertrophic cardiomyopathy: New pathogenic variant in MYH7.	The title of the referenced article explicitly indicates the association of a pathogenic variant in MYH7 with hypertrophic cardiomyopathy.
PMID:23905887	SUPPORT	Genetic mutations can be identified in approximately 60% of patients; these are commonest in genes that encode proteins of the cardiac sarcomere.	While the specific mutations in MYH7 are not detailed in this snippet, the article supports the general assertion that genetic mutations, particularly in sarcomeric genes like MYH7, are common in hypertrophic cardiomyopathy.
PMID:31735781	SUPPORT	By NGS, we determined that these subjects with HCM symptoms carried a missense heterozygous genetic mutation c.2632C>A (p.V878L) in the myosin heavy chain 7 (MYH7) gene with an autosomal dominant pattern of inheritance.	The article details a specific pathogenic variant (p.V878L) in the MYH7 gene associated with hypertrophic cardiomyopathy.
PMID:36797478	SUPPORT	The dominant-negative c.1208G>A (p.R403Q) pathogenic variant (PV) in beta-myosin (MYH7) is a common and well-studied PV that leads to increased cardiac contractility and HCM onset.	The article identifies the commonly studied pathogenic variant (p.R403Q) in MYH7 which leads to hypertrophic cardiomyopathy.
PMID:30681346	SUPPORT	Of 33 HCM genes, only 8 (24%) were categorized as definitive (MYBPC3, MYH7, TNNT2, TNNI3, TPM1, ACTC1, MYL2, and MYL3).	The article categorizes MYH7 as one of the 'definitive' genes associated with hypertrophic cardiomyopathy.
PMID:37565978	SUPPORT	MYH7 variants cause hypertrophic cardiomyopathy (HCM), noncompaction cardiomyopathy (NCCM), and dilated cardiomyopathy (DCM).	The article explicitly states that MYH7 variants cause hypertrophic cardiomyopathy, reinforcing the genetic association.

association

Pathogenic Variants

1

name

MYBPC3

evidence

reference	supports	snippet	explanation
PMID:34180388	SUPPORT	The proband carries a novel heterozygous nonsense variant of MYBPC3:c.2731G > T (p.E911X) ... suggesting the functional damages to the protein of MYBPC3.	The study identifies a novel pathogenic variant in MYBPC3 associated with hypertrophic cardiomyopathy.
PMID:24240729	SUPPORT	The second wave started in 1995 by the discovery that mutations in the gene encoding cMyBP-C cause hypertrophic cardiomyopathy (HCM).	This review discusses that mutations in MYBPC3 (which encodes cMyBP-C) cause HCM.
PMID:29641836	SUPPORT	MYBPC3Delta25bp has been linked to cardiomyopathy and heart failure.	Study links the MYBPC3Δ25bp genetic variant to cardiomyopathy, supporting the genetic association.
PMID:37409452	SUPPORT	The 2 sarcomere genes most commonly associated with hypertrophic cardiomyopathy (HCM), MYBPC3 (myosin-binding protein C3)...	Study identifies MYBPC3 as a common gene associated with hypertrophic cardiomyopathy.
PMID:35544052	SUPPORT	Pathogenic variants associated with inherited cardiomyopathy ... MYBPC3 ... were classified ...	This study includes MYBPC3 as one of the genes with pathogenic variants associated with inherited cardiomyopathy.

association

Pathogenic Variants

2

name

TNNT2

evidence

reference	supports	snippet	explanation
PMID:22017532	SUPPORT	Hypertrophic cardiomyopathy is caused by pathogenic sarcomere gene variants. Individuals with a thin-filament variant present with milder hypertrophy than carriers of thick-filament variants, although prognosis is poorer.	The study indicates that TNNT2 (troponin T gene) variants are associated with hypertrophic cardiomyopathy, supporting the statement.
PMID:32290750	SUPPORT	Hypertrophic cardiomyopathy is caused by pathogenic sarcomere gene variants. Individuals with a thin-filament variant present with milder hypertrophy than carriers of thick-filament variants, although prognosis is poorer.	This study supports the claim by identifying TNNT2 variants as a causative factor for hypertrophic cardiomyopathy.
PMID:33588347	SUPPORT	Variants were identified and annotated using in silico tools, and further classified as pathogenic or benign according to the American College of Medical Genetics and Genomics guidelines. Variants with functional effects were identified...and TNNT2...	The study identifies pathogenic variants in TNNT2 among patients with hypertrophic cardiomyopathy, supporting the genetic association.
PMID:7665141	SUPPORT	Genes on five loci on separate chromosomes are responsible for a familial disease in which all or part of the ventricular muscle undergoes thickening with a histological picture of irregular hypertrophy and disorganized arrangement of myocytes (disarray). The three genes identified so far encode for beta heavy chain myosin (chromosome 14), troponin T (chromosome 1) and alpha tropomyosin (chromosome 15).	The study reveals that the troponin T gene (TNNT2) is one of the implicated genes in hypertrophic cardiomyopathy.
PMID:28771489	SUPPORT	The percentage of patients with pathogenic/likely pathogenic (P/LP) variants in the main genes was 33.3%...Variants in MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 were identified using Sanger sequencing (N = 84) or NGS (N = 303).	The study supports the statement by identifying pathogenic TNNT2 variants in patients with hypertrophic cardiomyopathy.

association

Pathogenic Variants

0

name

None Applicable

evidence

reference	supports	snippet	explanation
PMID:23692943	WRONG_STATEMENT	Hypertrophic cardiomyopathy is a complex cardiovascular disorder particularly sensitive to environmental changes and physiologic stress. Warm weather and strenuous activity can be a dangerous combination for people that have hypertrophic cardiomyopathy. Often sudden cardiac death is the first symptom of the disorder.	The statement that hypertrophic cardiomyopathy is not influenced by environmental factors is incorrect. Environmental factors and physiological stress are significant factors in the management and severity of hypertrophic cardiomyopathy.

0

name

Beta Blockers

description

Used to reduce heart rate and improve symptoms

evidence

reference	supports	snippet	explanation
PMID:35450574	SUPPORT	Beta-Blockers and Exercise Hemodynamics in Hypertrophic Cardiomyopathy.	This reference discusses the use of beta-blockers in the context of hypertrophic cardiomyopathy, which supports the statement that beta-blockers are used to improve symptoms in this condition, though details on heart rate reduction specifically may be implied but not detailed.
PMID:21389910	SUPPORT	Throughout the years, numerous medical treatments have been used to achieve symptom control in these patients, and include medications such as beta-blockers, calcium channel blockers, amiodarone, disopyramide, and angiotensin receptor blockers.	The abstract directly mentions the use of beta-blockers to control symptoms in hypertrophic cardiomyopathy, supporting the statement.
PMID:37850394	SUPPORT	beta-Adrenergic receptor antagonists (beta-blockers) are the first-line therapy for HCM. However, beta-blockers commonly selected for this disease are often poorly tolerated in patients, where heart-rate reduction and noncardiac effects can lead to reduced cardiac output and fatigue.	This reference confirms that beta-blockers are a first-line therapy for hypertrophic cardiomyopathy and are used for heart rate reduction, supporting the statement.
PMID:25198737	SUPPORT	Beta-blocker therapy is without doubt the treatment of choice for patients with heart failure caused by hypertrophic cardiomyopathy, but the dose needs to carefully titrated on an individual basis for maximum benefit.	The reference highlights the use of beta-blockers in hypertrophic cardiomyopathy to improve symptoms, aligning with the statement.

1

name

Calcium Channel Blockers

description

Help to relax heart muscle and improve blood flow

evidence

reference	supports	snippet	explanation
PMID:17162264	SUPPORT	For symptomatic patients with non-obstructed disease medical treatment with calcium channel blockers and beta-blockers is aimed to improve heart failure symptoms, and ischemia. Verapamil is the most often used, with likely benefit of relieving ischemia.	The literature supports that calcium channel blockers are used to improve symptoms in hypertrophic cardiomyopathy patients, which implies relaxing the heart muscle and improving blood flow.
PMID:3515244	SUPPORT	The three approved calcium-channel blockers--nifedipine, verapamil and diltiazem--have offered new treatments for angina.	Even though the focus is on angina, the acknowledged use of calcium channel blockers reinforces their role in cardiovascular conditions including HCM.
PMID:36044874	SUPPORT	CCBs are effective antihypertensive drugs and a very good therapeutic option for HTN LVH as they can cause reverse LVH remodeling.	The review suggests the effectiveness of calcium channel blockers in treating hypertensive left ventricular hypertrophy (HTN LVH), indicating a role in remodeling heart muscle, which aligns with improving blood flow.
PMID:7004293	SUPPORT	The negative inotropic effects of verapamil are valuable in improving the symptoms and hemodynamic disturbances of hypertrophic cardiomyopathy.	This directly supports the use of calcium channel blockers (specifically verapamil) in hypertrophic cardiomyopathy by improving symptoms and hemodynamics, which implies relaxing the heart muscle and improving blood flow.

2

name

Septal Myectomy

description

Surgical removal of part of the thickened heart muscle

evidence

reference	supports	snippet	explanation
PMID:38368037	SUPPORT	Septal myectomy is a well-established procedure for septal reduction in patients with obstructive hypertrophic cardiomyopathy (HCM) who have not responded to medical treatment.	The literature directly confirms that septal myectomy is used to surgically remove part of the thickened heart muscle in hypertrophic cardiomyopathy patients.
PMID:3665141	SUPPORT	Surgical septal myectomy is the preferred treatment of choice if medical treatment is unsuccessful or intolerable.	The literature reiterates that septal myectomy is a surgical treatment for removing part of the thickened heart muscle in cases where medical treatments fail.
PMID:31280832	SUPPORT	Surgical myectomy was initially advocated only for patients with symptoms refractory to maximal tolerated medical therapy.	This supports the usage of septal myectomy for removing thickened muscle parts as a treatment for hypertrophic cardiomyopathy.
PMID:22687587	SUPPORT	Treatments for hypertrophic cardiomyopathy are largely selected based on patient symptoms and echocardiographic findings.	While this reference does not directly state septal myectomy, it mentions treatment selection based on symptoms, which aligns with the usage context of septal myectomy in other literature. Therefore, it indirectly supports the use.

3

name

Alcohol Septal Ablation

description

Minimally invasive procedure to reduce obstruction by injecting alcohol into a small artery that supplies the thickened heart muscle

evidence

reference	supports	snippet	explanation
PMID:35710280	SUPPORT	Over the past several decades, alcohol septal ablation has become an established therapy for selected patients, in whom there is clinical improvement in symptoms as well as objective functional capacity.	This reference supports the use of alcohol septal ablation as a treatment for hypertrophic cardiomyopathy by describing improved clinical outcomes and functional capacity.
PMID:36598161	SUPPORT	There are several invasive therapies including proven therapies such as alcohol septal ablation and septal myectomy.	This reference supports the use of alcohol septal ablation as a proven therapy for hypertrophic cardiomyopathy.
PMID:10980888	SUPPORT	Following balloon inflation and intracoronary myocardial contrast echocardiography, ethyl alcohol is injected through the catheter lumen to cause proximal interventricular septum infarction and relief of outflow tract obstruction.	This reference supports the description of alcohol septal ablation as a minimally invasive procedure to reduce obstruction by injecting alcohol.
PMID:20973822	SUPPORT	Alcohol septal ablation (ASA) has been shown to be an effective treatment in patients with hypertrophic obstructive cardiomyopathy (HOCM) who are refractory to medical treatment.	This reference supports the effectiveness of alcohol septal ablation in treating hypertrophic cardiomyopathy by injecting alcohol into the septal artery.

4

name

Implantable Cardioverter Defibrillator (ICD)

description

Prevents sudden cardiac death in high-risk patients

evidence

reference	supports	snippet	explanation
PMID:26002383	SUPPORT	Nevertheless, several observational clinical studies have shown that the ICD reliably terminates life-threatening ventricular tachyarrhythmias in HCM, and is largely responsible for reducing HCM mortality to 0.5% per year, by preventing SD and changing the natural course of the disease.	This excerpt supports the statement by showing that ICDs prevent sudden cardiac death in high-risk patients with hypertrophic cardiomyopathy.
PMID:36396186	SUPPORT	Implantable cardioverter-defibrillators are the mainstay of therapy for prevention of sudden cardiac death in high-risk patients with hypertrophic cardiomyopathy (HCM).	This excerpt also supports the statement by confirming that ICDs are a primary treatment used to prevent sudden cardiac death in high-risk HCM patients.
PMID:22687587	SUPPORT	Risk of sudden death correlates with maximum left ventricular (LV) wall thickness. Massive LV thickening of 30 mm or more is an indication for primary prevention of sudden death with an implanted defibrillator.	This excerpt provides specific criteria for using ICDs as a preventative measure in patients with significant hypertrophic cardiomyopathy, further supporting the statement.
PMID:36134835	SUPPORT	During follow-up of 4.8+/-3.4 years, there was no sudden cardiac death, but 20.6% patients with implantable cardioverter-defibrillator had at least one appropriate shock.	While the focus is on the outcome of ICD shocks, the lack of sudden cardiac deaths among ICD patients aligns with the notion that ICDs prevent sudden cardiac death in high-risk HCM patients.

0

name

Echocardiogram

evidence

reference	supports	snippet	explanation
PMID:22948303	SUPPORT	The evaluation of hypertrophic cardiomyopathy incorporates methods based on the ultrasound image, which, along with MRI, allow recognizing ventricular obstruction generating mechanisms, thus facilitating the diagnosis and management of obstructive and latent obstructive forms.	The text indicates that echocardiographic imaging is crucial for identifying left ventricular obstruction in hypertrophic cardiomyopathy, supporting the statement about echocardiogram diagnosis.
PMID:37160197	SUPPORT	This document provides an additional practical framework for optimal image and measurement acquisition and guidance on how to tailor the echocardiography examination for individuals with HCM.	This supports that echocardiogram (which includes ultrasound) is a fundamental diagnostic tool for hypertrophic cardiomyopathy.
PMID:133253	SUPPORT	Asymmetric septal hypertrophy was demonstrated in both obstructive and nonobstructive HCM. In all cases of HCM studied, the thickness of the interventricular septum was 1.4 cm or more (1.4-3.7 cm) ... A systolic anterior movement of the mitral valve (SAM) was observed in obstructive cases only and characterized by a large backward component in late systole and an extreme approximation to the interventricular septum at its peak.	The echocardiographic study clearly demonstrates its effectiveness in diagnosing features of HCM including left ventricular hypertrophy and outflow obstruction.

notes

Shows left ventricular hypertrophy and outflow obstruction if present

1

name

Electrocardiogram

evidence

reference	supports	snippet	explanation
PMID:32639329	PARTIAL	In our study, only a few ECG voltage criteria used for the detection of LVH in clinical practice showed an acceptable performance in the HCM population.	While ECG can show signs of left ventricular hypertrophy, its overall diagnostic accuracy in hypertrophic cardiomyopathy (HCM) populations is limited.
PMID:37579849	PARTIAL	Although the 12‑lead electrocardiogram (ECG) is abnormal in most patients with hypertrophic cardiomyopathy (HCM), some present normal ECG.	The ECG can be useful for diagnosing HCM, but a normal ECG does not rule out the condition.
PMID:23704850	SUPPORT	Electrocardiogram typically shows repolarization changes and giant (>10 mm), inverted T waves in the anterolateral leads.	Specific ECG patterns can be indicative of certain variants of HCM.
PMID:30739754	PARTIAL	The minimum check-up must include an electrocardiogram and a transthoracic echocardiography, which will most of the time be completed by magnetic resonance imaging.	While ECG is part of the diagnostic process, it alone may not be sufficient for a conclusive diagnosis.
PMID:25060129	SUPPORT	Attention is drawn to the finding that in many differing etiologies of left ventricular hypertrophy ST-T-wave changes commonly referred to as 'strain'-pattern are a harbinger of an increased risk of malignant cardiac arrhythmias and sudden death.	ECG changes such as ST-T wave abnormalities are relevant for diagnosing LVH in the context of HCM.

notes

May show signs of left ventricular hypertrophy or arrhythmias

HCM