Cardiac Death In Young Athletes Research Articles

ECG Characteristics of Young High School Athletes in Northwest Florida

ABSTRACT Background: Sudden cardiac death in young athletes is a rare and tragic occurrence. A preparticipation physical examination (PPE) is widely used to identify athletes who might be at risk of sudden cardiac death. High school athletes in Escambia, Okaloosa, Santa Rosa, and Walton counties in Florida undergo annual sports physicals through a local sports medicine outreach program. A resting electrocardiogram (ECG) was implemented during the 2022 PPE. The aim of this study was to document the efficacy of implementing ECGs and to highlight the cardiac abnormalities identified in young athletes as part of a 1-d PPE. Methods: In total, 1,357 high school athletes (males = 879 and females = 478; age, 15.1 ± 1.3 years) completed a resting 12-lead ECG. These were interpreted by cardiologists using the International Criteria, with abnormal results being further investigated before final sports clearance. Descriptive statistics regarding ECG findings were analyzed. Results: Twenty-three ECGs (1.7%) were classified as “abnormal” and were referred for further testing. Of these, 14 athletes were cleared to participate in sports, and 6 declined further evaluation. Three athletes, all males, were not cleared for sports participation. Of these, 2 athletes presented with Wolf-Parkinson-White syndrome (0.15%), and 1 athlete (0.10%) presented with dilated cardiomyopathy. Conclusion: Adding ECG screening as part of a single-day PPE can be used as a tool in identifying cardiac abnormalities among young athletes. To our knowledge, this is the highest number of athletes screened during a PPE in 1 d nationwide.

Antisense oligonucleotides as a potential therapeutic strategy in hypertrophic cardiomyopathy caused by MYBPC3 variants

Abstract Funding Acknowledgements Type of funding sources: Foundation. Main funding source(s): Sociedad Española de Cardiología Background/Introduction Non-sense or frameshift mutations in the MYBPC3 gene encoding cardiac myosin-binding protein C (cMyBP-C) are a major cause for inherited forms of Hypertrophic Cardiomyopathy (HCM), the most frequent inherited cardiac disease, affecting 0.2% of the general population and represents the leading cause for sudden cardiac death in young athletes. During the last decade, RNA-based therapeutic approaches have been studied for neuromuscular disorders and recently became to be considered to envision causal therapies for cardiomyopathies, utilizing antisense oligonucleotide mediated exon skipping, which attempts to reframe mutated mybpc3 transcripts, resulting in shortened but functional protein. MYBPC3 gene has a total of 34 coding exons and, exons 2, 22, and 24-27 are ideal targets for skipping. Purpose We aim to design and evaluate antisense oligonucleotides (AONs) for efficient exon-skipping in targeted MYBPC3 exons. Methods We designed two specific AONs to mask the MYBPC3 exon 26 and confirmed successfully mediated exon skipping without disrupting the MYBPC3 reading frame. We chose a previously identified MYBPC3 c.2671insG/p.R891Afs*160 variant in exon 26, which causes a frameshift mutation leading to truncated MYBPC3 in HCM. Primary Human Cardiac Myocytes (PHCM) (Promocell) were transfected with the splice-site targeting AONs. Results In this study we designed two chemically modified AONs (AON1 and AON2) through the addition of a 2′-O-methyl RNA phosphorothioate backbone, targeting exonic splicing enhancers (ESEs) or splice sites (SSs) can induce skipping of MYBPC3 exon 26. We evaluated AON1 (i26-3SS) and AON2 (ESE)-treated Primary Human Cardiac Myocytes (PHCM) show 26-27 exons skipping in comparison to control samples. The identity of the exon 26-27 skipped bands detected by RT-PCR was confirmed by Sanger sequencing and preservation of both nucleotide sequences of MYBPC3 exons 25 and 28 were observed. These results indicate that AONs specifically for mutated MYBPC3 target exons, expanding the framework of future advancements in the therapeutic potential of antisense-mediated exon skipping MYBPC3-based HCM. In addition, skipping exons 26 and 27 we eliminate a total of 22 possible exonic mutations, which represent 7.2% of the total known MYBPC3 exonic mutations. Conclusion(s) These results demonstrate that disruption of the MYBPC3 reading frame due to a truncating HCM mutation can be restored by exon skipping in cardiomyocytes in vitro indicating RNA-based strategies as a potential treatment option for HCM.Exon skipping scheme

Sudden cardiac death in young athletes: exome sequencing results

BACKGROUND: Ranking risks and prevention of sudden cardiac death in professional young athletes is a crucial unresolved problem in sports medicine. Intense physical exertion can lead to adaptive changes in the cardiovascular system, which can mask inherited diseases with predominant myocardial involvement, such as hypertrophic cardiomyopathy. Undiagnosed cases of such diseases can be a risk factor for fatal outcomes associated with training and competitive activities, making this problem extremely relevant.
 AIM: To conduct a diagnostic search for possible molecular causes of cardiovascular diseases associated with a high risk of sudden death in young athletes.
 MATERIALS AND METHODS: Whole-exome sequencing of DNA extracted from two groups of biomaterials was performed: nine autopsy samples of heart tissues from young athletes who died during intense physical exertion and three venous blood samples from active athletes of the Russian national team. Obtained data were subjected to bioinformatic analysis and clinical interpretation.
 RESULTS: In total, 12 DNA samples were analyzed using a panel of 277 genes associated with the development of cardiovascular diseases with a high risk of sudden death. In 4 of 12 samples (33.3%), variants possibly related to the phenotype were found upon clinical interpretation of the sequencing results. A pathogenic variant was found in the MYBPC3 gene, leading to the development of hypertrophic cardiomyopathy (OMIM: 115197), and a potential pathogenic variant was found in the TRPM4 gene, associated with progressive familial heart block type IB (OMIM: 618531). Moreover, two variants with uncertain clinical significance were found in CAV3 and SCN1B.
 CONCLUSION: Currently, data from high-throughput sequencing are collected to identify the molecular basis of cardiovascular diseases with a high risk of sudden cardiac death. Identifying young athletes who are carriers of pathogenic and possibly pathogenic gene variants is beneficial for preventing fatal outcomes and personalizing medical support for professional athletes.

Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.

Cardiomyopathies (CMPs) represent a significant healthcare burden and are a major cause of heart failure leading to premature death. Several CMPs are now recognized to have a strong genetic basis, including arrhythmogenic cardiomyopathy (ACM), which predisposes patients to arrhythmic episodes. Variants in one of the five genes (PKP2, JUP, DSC2, DSG2, and DSP) encoding proteins of the desmosome are known to cause a subset of ACM, which we classify as desmosome-related ACM (dACM). Phenotypically, this disease may lead to sudden cardiac death in young athletes and, during late stages, is often accompanied by myocardial fibrofatty infiltrates. While the pathogenicity of the desmosome genes has been well established through animal studies and limited supplies of primary human cells, these systems have drawbacks that limit their utility and relevance to understanding human disease. Human induced pluripotent stem cells (hiPSCs) have emerged as a powerful tool for modeling ACM in vitro that can overcome these challenges, as they represent a reproducible and scalable source of cardiomyocytes (CMs) that recapitulate patient phenotypes. In this review, we provide an overview of dACM, summarize findings in other model systems linking desmosome proteins with this disease, and provide an up-to-date summary of the work that has been conducted in hiPSC-cardiomyocyte (hiPSC-CM) models of dACM. In the context of the hiPSC-CM model system, we highlight novel findings that have contributed to our understanding of disease and enumerate the limitations, prospects, and directions for research to consider towards future progress.

Exercise in Hypertrophic Cardiomyopathy: Recent Conceptual Changes and Recommendations for Pre-Exercise Tests.

Traditionally, individuals with hypertrophic cardiomyopathy (HCM) have been advised not to participate in more than low-intensity exercises. HCM was originally described in the context of sudden death, and early literature from the registry showed that HCM was the most common cause of sudden cardiac death in young athletes. Therefore, there has long been a concern that exercise could trigger ventricular arrhythmia and sudden cardiac death. Although a few patients with HCM may progress along deteriorating disease pathways, many have no clinically significant symptoms or adverse events, no need for major treatment, and a normal life expectancy. Therefore, the routine restriction of any exercise intensity in this large group deprives them of the multiple benefits of exercise and may have detrimental effects on long-term clinical outcomes. However, it has been reported that light to moderate exercise is acceptable for many patients with HCM, and recent evidence suggests that vigorous exercise does not increase the risk of sudden death in this population. Thus, we reviewed previous literature regarding the effects of exercise in patients with HCM and provided cutting-edge information on the safety and concerns of exercise. In addition, based on our experience and previous research, we reviewed the conditions that should be met before starting exercise and the tests required to confirm them.

Long <i>QT</i> Syndrome in Young Athletes

Long QT syndrome is a disease associated with a high risk of sudden cardiac (arrhythmic) death. The frequency of sudden cardiac death is approximately 1: 100,000 young athletes, while autopsies often do not detect changes, which indicates a primary arrhythmogenic death. The article describes two clinical cases of young athletes with prolongation of the QT interval. The possible causes of the long QT syndrome and the difficulties of diagnosing this syndrome in children and adolescents involved in sports are discussed. Regardless of the reasons leading to the prolongation of the QT interval, there is a risk of arrhythmic events. Timely diagnosis of long QT syndrome is the way to the primary prevention of sudden cardiac death in young athletes.

Echocardiography in the preparticipation screening: an old topic revisited.

Preparticipation screenings have been conceived for the potential to prevent sudden cardiac death in young athletes by early identification of hidden cardiac diseases. Commonly used protocols include family history collection, physical examination, and resting electrocardiogram. Transthoracic echocardiography has been hypothesized to have a primary role in the preparticipation screening. The present study aimed to evaluate the additional role of echocardiogram in identifying cardiovascular abnormalities that might be undetected by commonly used preparticipation screening. We retrospectively reviewed Ferrari Formula Benessere, a corporate wellness program database, and analyzed data recorded from 2017 to 2022 to compare two medical models: a 'standard' preparticipation screening including medical history, physical examination, electrocardiogram and exercise stress testing versus an 'advanced' preparticipation screening comprising history, physical examination, electrocardiogram, exercise stress testing and echocardiography. From an initial sample size of 7500 patients, we included 500 patients (420 male, 33.69 ± 7.9 mean age) enrolled for the first time in the corporate wellness program between 2017 and 2022. Three hundred and thirty-nine (67.8%) patients had no abnormal findings at 'standard' preparticipation screening and, even if they would have not required further evaluation, we performed echocardiography anyway ('advanced' preparticipation screening): 31 (9.1%) showed some abnormal cardiovascular findings at echocardiography, such as patent foramen ovalis, bicuspid aortic valve, aortic root ectasia or mitral valve prolapse. Screening echocardiogram showed an additional value (about 10% more) in detecting patients with cardiovascular abnormalities, otherwise undiagnosed with the 'standard' preparticipation screening protocol.

Reversible Apical Hypertrophy in a Young Competitive Athlete with Familiar Hypertrophic Cardiomyopathy.

BACKGROUND Differential diagnosis between athlete's heart and hypertrophic cardiomyopathy is sometimes challenging in sport cardiology since endurance training can cause a distinct pattern of functional and structural changes of the cardiovascular system. It is of crucial importance to accurately diagnose it and stratify the arrhythmic risk since hypertrophic cardiomyopathy is one of the leading causes of sudden cardiac death in young athletes. Apical hypertrophic cardiomyopathy is a relatively rare form of hypertrophic cardiomyopathy that predominantly affects the apex of the left ventricle and usually has a nonobstructive physiology. Few data and studies are available on influence of aerobic training (and detraining) on morphological changes in athletes with apical hypertrophic cardiomyopathy. CASE REPORT We present the case of a 19-year-old male soccer athlete with family history for obstructive hypertrophic cardiomyopathy, with electrocardiographic and morphological left ventricular remodeling in association with sports activity. Intensive aerobic training led to marked T-wave inversion on 12-lead ECG and left ventricular hypertrophy compatible with apical hypertrophic cardiomyopathy. Genetic testing confirmed the presence of familial variant c853C>T, p.(Arg 285Cys) on TNNT2 gene. After 18 months detraining, we observed a complete regression of ECG abnormalities and a reverse remodeling of the left ventricular hypertrophy. No pharmacological therapy was indicated; periodic cardiological evaluations were advised. Monitoring devices or implantable cardioverter defibrillator were not recommended. CONCLUSIONS This case suggests that intensive aerobic training can affect the pathological hypertrophic cardiomyopathy substrate, facilitating the development of left ventricular hypertrophy and, more interesting, regression of structural changes after detraining.

Meta-analysis on the Effectiveness of ECG Screening for Conditions Related to Sudden Cardiac Death in Young Athletes.

Controversy exists over the use of electrocardiograms (ECGs) in sports pre-participation screening. We performed a meta-analysis comparing the effectiveness of history and physical examination (H&P) with ECG at detecting both cardiac disease and sudden cardiac death-associated conditions (SCD-AC). Pre-participation studies published from 2015 to 2020 with athletes 10 to 35 years old were included. This yielded 28 011 athletes screened and 124 cardiac diagnoses, 103 of which were SCD-AC. A meta-analysis of log odds ratios (ORs) was conducted using a random-effects model. The ORs for the association between H&P and detecting both cardiac disease and SCD-AC were not statistically significant (OR = 3.4, P = .076; OR = 2.9, P = .078). The ORs for the association between ECG and detecting both cardiac disease and SCD-AC were statistically significant (60, P < .001; 148, P < .0001). In conclusion, the odds of detecting both cardiac disease and conditions related to SCD with ECG are greater than with H&P during sports pre-participation screening.

Evaluating Policy Consistency in Preparticipation Physical Evaluations for High School Athletes

Sudden cardiac death in young athletes is a rare but tragic occurrence impacting families, friends, institutions, and communities. The causes of sudden cardiac death often go undetected because of the vague associated symptoms. High school athletes are required to complete a preparticipation physical examination (PPE). However, screening guidelines at the state level are flexible and can lead to an inconsistent cardiovascular assessment of student-athletes. A review of State High School Association guidelines for all 50 states and the District of Columbia evaluated consistency of current PPE policies and found variation in frequency, forms utilized, and who can complete the physical.

COMMUNITY-TO-INSTITUTION ATHLETIC CARDIOVASCULAR SCREENING: VALIDATION OF AN ELECTROCARDIOGRAM WORKFLOW MODEL

COMMUNITY-TO-INSTITUTION ATHLETIC CARDIOVASCULAR SCREENING: VALIDATION OF AN ELECTROCARDIOGRAM WORKFLOW MODEL

Feasibility of electrocardiogram screening in the USA prior to high school sport participation

BackgroundSudden cardiac death in young athletes is a catastrophic event with an incidence of 1:40,000–1:80,000. Pre-participation sport screening utilizes a 14-point targeted evaluation. Recently, some states have added an ECG to the traditional history and physical. ObjectivesThe study describes a large-scale ECG screening program for middle and high school students. The aim is to depict important components, partners, and plans that can be adopted by other municipalities to help prevent sudden cardiac arrest in this population. MethodsIn 2019, Brevard County School Board in Florida mandated ECGs before participation in middle and high school sports. They partnered with a non-profit group that provides ECGs for a $20.00 fee. Volunteer pediatric cardiologists interpreted the ECGs. Results were emailed to participants, and abnormal results received a phone call to ensure appropriate follow-up care. ResultsThere were 5877 ECG screenings between 4/1/19–12/31/19 with 3% (199/5877) abnormal: 30% (60/199) ventricular conduction, 26% (51/199) arrhythmias, 13% (25/199) ventricular hypertrophy/chamber enlargement, 11% (21/199) ST-T abnormalities, 8% (16/199) prolonged QTc, 6% (12/199) WPW syndrome, and 4% (7/199) AV conduction and axis deviation. The incidence of critical heart disease with a risk of sudden cardiac arrest was 0.1% (8/5877) in those with a confirmed final diagnosis: 6 who underwent an ablation procedure for WPW syndrome, 1 with gene-positive long QTc, and 1 with left ventricular hypertrophy who is undergoing genetic evaluation for hypertrophic cardiomyopathy. ConclusionsTo our knowledge, this is the first large school district in Florida to mandate this level of cardiovascular screening. This pilot project demonstrates that large volume ECG screening prior to school sport participation is feasible at a low cost when utilizing appropriate manpower and providing access to follow up-care.

Identifying Vulnerable Impact Locations to Reduce the Occurrence of Deadly Commotio Cordis Events in Children's Baseball: A Computational Approach.

Commotio cordis is the second leading cause of sudden cardiac death in young athletes. Currently available chest protectors on the market are ineffective in preventing cases of commotio cordis in young athletes who play baseball. This study focused on using contour maps to identify specific baseball impact locations to the chest that may result in instances of commotio cordis to children during baseball games. By identifying these vulnerable locations, we may design and develop chest protectors that can provide maximum protection to prevent commotio cordis in young athletes. Simulation cases were run using the validated CHARM-10 chest model, a detailed finite element model representing an average 10-year-old child's chest. A baseball model was developed in company with the chest model, and then used to impact the chest at different locations. A 7 × 8 impact location matrix was designed with 56 unique baseball impact simulations. Left ventricle strain and pressure, reaction force between the baseball and chest, and rib deformations were analyzed. Left ventricle strain was highest from baseball impacts directly over the left ventricle (0.34) as well as impacts slightly lateral and superior to the cardiac silhouette (0.34). Left ventricle pressure was highest with impacts directly over the left ventricle (82.94 kPa). We have identified the most dangerous impact locations resulting in high left ventricle strain and pressure. This novel study provided evidence of where to emphasize protective materials for establishing effective chest protectors that will minimize instances of commotio cordis in young athletes.

Solid-phase recombinase polymerase amplification using ferrocene-labelled dNTPs for electrochemical detection of single nucleotide polymorphisms

Hypertrophic cardiomyopathies (HCM) are the principal cause of sudden cardiac death in young athletes and it is estimated that 1 in 500 people have HCM. The aim of this work was to develop an electrochemical platform for the detection of HCM-associated SNP in the Myosin Heavy Chain 7 (MYH7) gene, in fingerprick blood samples. The platform exploits isothermal solid-phase primer elongation using recombinase polymerase amplification with either individual or a combination of four ferrocene-labelled nucleoside triphosphates. Four thiolated reverse primers containing a variable base at their 3’ end were immobilised on individual gold electrodes of an array. Following hybridisation with target DNA, solid phase recombinase polymerase amplification was carried out and primer elongation incorporating the ferrocene labelled oligonucleotides was only detected at one of the electrodes, thus facilitating identification of the SNP under interrogation. The assay was applied to the direct detection of the SNP in fingerprick blood samples from eight different individuals, with the results obtained corroborating with next generation sequencing. The ability to be able to robustly identify the SNP using a 10 μL fingerprick sample, demonstrates that SNP discrimination is achieved using low femtomolar (ca. 8 × 105 copies DNA) levels of DNA.

Heart Failure in Patients with Arrhythmogenic Cardiomyopathy.

Arrhythmogenic cardiomyopathy (ACM) is a rare inherited cardiomyopathy characterized as fibro-fatty replacement, and a common cause for sudden cardiac death in young athletes. Development of heart failure (HF) has been an under-recognized complication of ACM for a long time. The current clinical management guidelines for HF in ACM progression have nowadays been updated. Thus, a comprehensive review for this great achievement in our understanding of HF in ACM is necessary. In this review, we aim to describe the research progress on epidemiology, clinical characteristics, risk stratification and therapeutics of HF in ACM.

Computational Assessment of Hemodynamic Significance in Patients With Intramural Anomalous Aortic Origin of the Coronary Artery Using Virtually Derived Fractional Flow Reserve and Downstream Microvascular Resistance.

Anomalous aortic origin of a coronary artery (AAOCA) is the second most common cause of sudden cardiac death in young athletes. One of the hypothesized mechanisms of ischemia in these patients is the lateral compression of the anomalous artery with an intramural or interarterial course. The presence of a narrowing in the anomalous artery will cause physiologic changes in downstream resistance that should be included for computational assessment of possible clinical ramifications. In this study, we created different compression levels, i.e., proximal narrowing, in the intramural course of a representative patient model and calculated hyperemic stenosis resistance (HSR) as well as virtual fractional flow reserve (vFFR). Models also included the effect of the distal hyperemic microvascular resistance (HMR) on vFFR. Our results agreed with similar FFR studies indicating that FFR is increased with increasing HMR and that different compression levels could have similar FFR depending on the HMR. For example, vFFR at HSR: 1.0-1.3 and HMR: 2.30 mmHg/cm/s is 0.68 and close to vFFR at HSR: 0.6-0.7 and HMR: 1.6 mmHg/cm/s, which is 0.7. The current findings suggest that functional assessment of anomalous coronary arteries through FFR should consider the vascular resistance distal to the narrowing in addition to the impact of a proximal narrowing and provides computational approaches for implementation of these important considerations.

Preventing sudden cardiac death in young athletes – A perspective from the United States

Sudden cardiac death in young athletes is a rare, but devastating complication of several clinically silent conditions which can become unmasked during periods of intense physical activity. Prevention of sudden cardiac death starts with robust screening to allow the early identification of at risk individuals and the implementation of preventive strategies. The specific approach to screening (history and physical, with or without pre-participation electrocardiograms) varies across the globe with some notable differences between that used in Europe and the United States. The rationale for this variation is complex, but can be linked to the differences in risk factor prevalence, the healthcare infrastructure, and the capacity to identify and triage at risk individuals in a cost-effective manner. Beyond knowing the differences in the approaches to screening, establishing strategies that work (including novel techniques) and those that can be implemented in a successful and sustainable manner are key.

Causes of sudden cardiac death in young athletes and nonathletes: systematic review and meta-analysis

Abstract Funding Acknowledgements Type of funding sources: None. Introduction. The etiology of sudden cardiac death (SCD) in young people is still debated. The aim of this meta-analysis was to identify the most frequent causes of SCD in individuals aged ≤35 years, the differences between athletes and nonathletes and among geographic areas. Methods. Studies published between 01/01/1990 and 01/31/2020 and evaluating post-mortem the etiology of SCD in young individuals (≤35 years) were included. Individuals were divided in athletes and nonathletes. Studies that did not report separately data between athletes and nonathletes were excluded. Results. Thirty-four studies met the inclusion criteria and a total population of 5,060 victims of SCD were analysed (2,890 athletes, 2,170 nonathletes). Structurally normal heart, hypertrophic cardiomyopathy (HCM), idiopathic left ventricular hypertrophy, and anomalous origin of coronary arteries (AOCA) were the most frequent causes of SCD in athletes while coronary artery disease (CAD), arrhythmogenic cardiomyopathy (ACM), and channelopathies were frequent causes of SCD in nonathletes. The number of SCDs due to ischemic heart disease (19.6% vs. 9.1%, p = 0.009), ACM (11.5% vs. 4.7%, p = 0.03) and channelopathies (8.4% vs. 1.9%, p = 0.02) was higher in nonathletes comparing with athletes. SCD due to non-ischemic left ventricular scar (5.1% vs. 1.1%, p = 0.01) was more frequent in athletes. HCM (p = 0.01) and AOCA (p = 0.004) were more frequently cause of SCD in US while ACM (p = 0.001), structurally normal heart (p = 0.02), and channelopathies (p = 0.02) in Europe. Conclusions. Structurally normal heart, HCM, AOCA were frequent causes of SCD in athletes while CAD, ACM and channelopathies in nonathletes. The causes of SCD differ between US and Europe.

Combined Non-Invasive Cardiac Imaging and Genetic Testing of Elite Volleyball Players: A Ten-Year Experience.

Sudden cardiac death in athletes is a devastating event. Although significant progress has been made in identifying the underlying pathophysiology and genetic basis for sudden cardiac death in young athletes, controversy exists regarding cost-effective screening measures to identify at-risk individuals. In this report we describe our ten-year experience performing cardiovascular assessments on 150 members of the United States Men’s and Women’s National Volleyball teams. Through a combination of history, physical, echocardiography and genetic testing, we have identified one previously undiagnosed athlete with Marfan syndrome, along with four others with a possible aortopathy. Taken together, this approach is a cost-effective strategy for the identification of at-risk tall athletes leading to potentially lifesaving interventions, and raises the issue of the feasibility of screening for all tall individuals.

Diagnostic, Prognostic, and Therapeutic Implications and Outcomes of Children with Primary Hypertrophic Cardiomyopathy in Kosovo

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a primary disease of the myocardium in which a portion of the myocardium is hypertrophied (thickened) without any obvious cause, creating functional impairment of the cardiac muscle. It is a leading cause of sudden cardiac death in young athletes. The occurrence of HCM is a significant cause of sudden unexpected cardiac death in any age group and as a cause of disabling cardiac symptom.&#x0D; AIM: The aim of the study was identification of the manifestations, assessment, and follows-up of children with HCM by transthoracic echocardiography as an important tool for clinical management and better understanding of pathogenesis of HCM.&#x0D; MATERIALS AND METHODS: We present a comprehensive analysis of 43 patients seen in Kosovo, with clinical and echocardiographic signs of HCM. Retrospectively, we analyzed medical records, treatment, and outcomes of those children, who have continued follow-up at our institution.&#x0D; RESULTS: Twenty-three of them were male, aged between 4 months and 9 years at the first presentation (median of 2 years and 3 months). Cardiac failure, seen in almost half of them, was the most frequent presenting feature. At admission, the chest radiographs revealed an increased cardiothoracic ratio, to a mean of 72% in 5 infants and to 65% in 37 older children. Measured by transthoracic echocardiography, 28 patients had asymmetric hypertrophy of the left ventricle while 15 had concentric hypertrophy. The left ventricular ejection fraction was depressed in 21 patients. Patients with cardiac failure received various combinations of diuretics, B-blockers, angiotensin-converting enzyme inhibitors, and aspirin. Death occurred in 8 patients, in 4 of them shortly after admission; 4 patients left Kosovo and continued examination abroad, and the remaining 32 were followed up for a mean 42 months, with a range from 5 to 115 months. Surgical intervention was not performed on any of them despite the clinical and echocardiographic indications. Recovery was noted in 14 patients but requiring anti-failure medications. Slightly over two-fifths died. Of those with asymmetric form, 45% died, in half of those presenting in infancy, and 89% of those who presented at admission with signs of cardiac failure.&#x0D; CONCLUSION: With the exception of the studies of pacing, no conclusive evaluations of treatments for HCM have been conducted. Management strategy is, therefore, based largely on clinical experience and consensus of many specialists.