Authentic assessment in medical education: exploring AI integration and student-as-partners collaboration.

BACKGROUND: Traditional assessments often lack flexibility, personalized feedback, real-world applicability, and the ability to measure skills beyond rote memorization. These may not adequately accommodate diverse learning styles and preferences, nor do they always foster critical thinking or creativity. The inclusion of Artificial Intelligence (AI), especially Generative Pre-trained Transformers, in medical education marks a significant shift, offering both exciting opportunities and notable challenges for authentic assessment practices. Various fields, including anatomy, physiology, pharmacy, dentistry, and pathology, are anticipated to employ the metaverse for authentic assessments increasingly. This innovative approach will likely enable students to engage in immersive, project-based learning experiences, facilitating interdisciplinary collaboration and providing a platform for real-world application of knowledge and skills. METHODS: This commentary paper explores how AI, authentic assessment, and Student-as-Partners (SaP) methodologies can work together to reshape assessment practices in medical education. RESULTS: The paper provides practical insights into effectively utilizing AI tools to create authentic assessments, offering educators actionable guidance to enhance their teaching practices. It also addresses the challenges and ethical considerations inherent in implementing AI-driven assessments, emphasizing the need for responsible and inclusive practices within medical education. Advocating for a collaborative approach between AI and SaP methodologies, the commentary proposes a robust plan to ensure ethical use while upholding academic integrity. CONCLUSION: Through navigating emerging assessment paradigms and promoting genuine evaluation of medical knowledge and proficiency, this collaborative effort aims to elevate the quality of medical education and better prepare learners for the complexities of clinical practice.

This commentary explores how Artificial Intelligence (AI) can revolutionize how medical education assesses students' learning. It discusses using AI tools to create more practical and personalized assessments, which can better prepare students for realworld medical challenges. The paper emphasizes the benefits of AI in fostering critical thinking and creativity, while also addressing the ethical considerations involved. It advocates for a collaborative approach between AI technology and traditional teaching methods to enhance the quality of medical education.

Arrhythmogenic potential of myocardial disarray in hypertrophic cardiomyopathy: genetic basis, functional consequences and relation to sudden cardiac death.

Myocardial disarray is defined as disorganized cardiomyocyte spatial distribution, with loss of physiological fibre alignment and orientation. Since the first pathological descriptions of hypertrophic cardiomyopathy (HCM), disarray appeared as a typical feature of this condition and sparked vivid debate regarding its specificity to the disease and clinical significance as a diagnostic marker and a risk factor for sudden death. Although much of the controversy surrounding its diagnostic value in HCM persists, it is increasingly recognized that myocardial disarray may be found in physiological contexts and in cardiac conditions different from HCM, raising the possibility that central focus should be placed on its quantity and distribution, rather than a mere presence. While further studies are needed to establish what amount of disarray should be considered as a hallmark of the disease, novel experimental approaches and emerging imaging techniques for the first time allow ex vivo and in vivo characterization of the myocardium to a molecular level. Such advances hold the promise of filling major gaps in our understanding of the functional consequences of myocardial disarray in HCM and specifically on arrhythmogenic propensity and as a risk factor for sudden death. Ultimately, these studies will clarify whether disarray represents a major determinant of the HCM clinical profile, and a potential therapeutic target, as opposed to an intriguing but largely innocent bystander.

Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion.

BACKGROUND: T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive clinical evaluation and long-term follow-up. The aim of this study was to determine the diagnostic yield from genetic testing, beyond clinical evaluation, when investigating athletes with TWI. METHODS: We investigated 50 consecutive asymptomatic black and 50 white athletes 14 to 35 years of age with TWI and a normal echocardiogram who were referred to a UK tertiary center for cardiomyopathy and sports cardiology. Subjects underwent exercise testing, 24-hour ambulatory ECG, signal-averaged ECG, cardiac magnetic resonance imaging, and a blood-based analysis of a comprehensive 311-gene panel for cardiomyopathies and ion channel disorders associated with TWI, including hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, left ventricular noncompaction, long-QT syndrome, and Brugada syndrome. RESULTS: In total, 21 athletes (21%) were diagnosed with cardiac disease on the basis of comprehensive clinical investigations. Of these, 8 (38.1%) were gene positive (myosin binding protein C[ MYBPC3], myosin heavy chain 7 [ MYH7], galactosidase alpha [ GLA], and actin alpha, cardiac muscle 1 [ ACTC1] genes) and 13 (61.9%) were gene negative. Of the remaining 79 athletes (79%), 2 (2.5%) were gene positive (transthyretin [ TTR] and sodium voltage-gated channel alpha subunit 5 [ SCN5A] genes) in the absence of a clinical phenotype. The prevalence of newly diagnosed cardiomyopathy was higher in white athletes compared with black athletes (30.0% versus 12%; P=0.027). Hypertrophic cardiomyopathy accounted for 90.5% of all clinical diagnoses. All black athletes and 93.3% of white athletes with a clinical diagnosis of cardiomyopathy or a genetic mutation capable of causing cardiomyopathy exhibited lateral TWI as opposed to isolated anterior or inferior TWI; the genetic yield of diagnoses from lateral TWI was 12.3%. CONCLUSIONS: Up to 10% of athletes with TWI revealed mutations capable of causing cardiac disease. Despite the substantial cost, the positive diagnostic yield from genetic testing was one half that from clinical evaluation (10% versus 21%) and contributed to additional diagnoses in only 2.5% of athletes with TWI in the absence of a clear clinical phenotype, making it of negligible use in routine clinical practice.

Electrocardiographic anterior T-wave inversion in athletes of different ethnicities: differential diagnosis between athlete's heart and cardiomyopathy.

AIMS: Anterior T-wave inversion (TWI) is a recognized variant in athletes of African/Afro Caribbean origin and some endurance athletes; however, the presence of this specific repolarization anomaly also raises the possibility of cardiomyopathy. The differentiation between physiological adaptation and cardiomyopathy may be facilitated by examining other repolarization parameters, notably the J-point and the ST-segment. METHODS AND RESULTS: We compared the electrocardiogram pattern of anterior TWI in a series of 80 healthy athletes (median age 21 years, 75% males); 95 patients with hypertrophic cardiomyopathy (HCM) (median age 46 years, 75% males), including 26 affected athletes; and 58 patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) (median age 32 years, 71% males), including 9 affected athletes. Athletes and patients were of either white/Caucasian or black/Afro Caribbean descent and showed TWI ≥1 mm in ≥2 contiguous anterior leads (V1-V4). We aimed to identify repolarization patterns for differentiating physiologic from pathologic TWI. After adjustment for age, gender, and ethnicity, J-point elevation <1 mm (but no ST-segment elevation without J-point elevation) in the anterior leads showing TWI and TWI extending beyond V4 remained independent predictors for both ARVC, with OR = 569 (95% CI = 38-8545; P < 0.001) and OR = 6.0 (95% CI = 1.2-37.8; P = 0.03), respectively, and HCM with OR = 227 (95% CI = 12-1620; P < 0.001) and OR = 331 (95% CI = 20-2752; P = 0.001), respectively. In athletes with anterior TWI, the combination of J-point elevation ≥1 mm and TWI not extending beyond V4 excluded a cardiomyopathy, either ARVC or HCM, with 100% sensitivity and 55% specificity. CONCLUSION: The combination of J-point elevation and TWI confined to lead V1-V4 offers the potential for an accurate differentiation between 'physiologic' and 'cardiomyopathic' anterior TWI, among athletes of both white/Caucasian or black/Afro Caribbean descent. Conversely, ST-segment elevation without J-point elevation preceding anterior TWI may reflect cardiomyopathy.

The prevalence and significance of a short QT interval in 18,825 low-risk individuals including athletes.

OBJECTIVES: The short QT syndrome is a cardiac channelopathy characterised by accelerated repolarisation which manifests as a short QT interval on the ECG. The definition of a short QT interval is debated, ranging from <390 to ≤320 ms, and its clinical significance in healthy young individuals is unknown. We assessed the prevalence and medium-term significance of an isolated short QT interval in a diverse young British population. METHODS: Between 2005 and 2013, 18 825 apparently healthy people aged 14-35 years underwent cardiovascular evaluation with history, physical examination and ECG. QT intervals were measured by cardiologists using 4 recommended guidelines (Seattle 2013, Heart Rhythm Society 2013, European Society of Cardiology 2010 and American Heart Association 2009). RESULTS: The prevalence of a short QT interval was 0.1% (26 patients, ≤320 ms), 0.2% (44 patients, ≤330 ms), 7.9% (1478 patients, <380 ms), 15.8% (2973 patients, <390 ms). Male gender and Afro-Caribbean ethnicity had the strongest association with short QT intervals. Athletes had shorter QT intervals than non-athletes but athletic status did not predict short QT intervals. Individuals with short QT intervals ≤320 ms did not report syncope or a sinister family history, and during a follow-up period of 5.3±1.2 years, there were no deaths in this group. CONCLUSIONS: The prevalence of a short QT interval depends on the recommended cut-off value. Even at values ≤320 ms, there was an excellent medium-term prognosis among 14 people followed. We conclude that a definition of ≤320 ms is realistic to prevent overdiagnosis and excessive investigations.

Results of a nationally implemented de novo cardiac screening programme in elite rugby players in England.

BACKGROUND/AIM: Screening of young competitive athletes remains a contentious issue. In 2010, a nationwide cardiac screening for all elite rugby players was introduced in England. This provided a unique opportunity to prospectively assess the feasibility and cost-effectiveness of a de novo, ECG-based cardiac screening programme. METHODS: Between 2010 and 2012, 1191 rugby players aged ≥14 years underwent cardiac screening with a health questionnaire, 12-lead ECG and a consultation with a cardiologist. The players with concerning findings on initial evaluation were offered on-site transthoracic echocardiogram (TTE). Athletes were referred for further investigations as deemed necessary. The overall cost of the screening programme was estimated. RESULTS: After initial evaluation, 9.7% of athletes underwent on-site TTE; 8.2% underwent on-site TTE due to ECG anomalies and 1.4% underwent on-site TTE due to concerns on the questionnaire. After TTE, only 2.9% of the total cohort was referred for further evaluation. Two players were diagnosed with potentially serious conditions; one with Wolff-Parkinson-White, who resumed competition after catheter ablation, and one with hypertrophic cardiomyopathy, who withdrew from competition. During a mean follow-up of 52.8±5.5 months, none of the players who were reassured experienced any adverse cardiac events. The total cost of the screening programme was £59 875, which averaged to a cost of £50 per player or £29 938 per condition identified. Application of refined ECG criteria would reduce the ECG false-positive rate to 4.9%. CONCLUSIONS: Preparticipation cardiac screening with 12-lead ECG is feasible. Refinement of the ECG criteria, the use of on-site TTE and expert setting can minimise the burden of unnecessary investigations and reduce costs.

Comparison of electrocardiographic criteria for the detection of cardiac abnormalities in elite black and white athletes.

BACKGROUND: Recent efforts have focused on improving the specificity of the European Society of Cardiology (ESC) criteria for ECG interpretation in athletes. These criteria are derived predominantly from white athletes (WAs) and do not account for the effect of Afro-Caribbean ethnicity or novel research questioning the relevance of several isolated ECG patterns. We assessed the impact of the ESC criteria, the newly published Seattle criteria, and a group of proposed refined criteria in a large cohort of black athletes (BAs) and WAs. METHODS AND RESULTS: Between 2000 and 2012, 1208 BAs were evaluated with history, examination, 12-lead ECG, and further investigations as appropriate. ECGs were retrospectively analyzed according to the ESC recommendations, Seattle criteria, and proposed refined criteria which exclude several specific ECG patterns when present in isolation. All 3 criteria were also applied to 4297 WAs and 103 young athletes with hypertrophic cardiomyopathy. The ESC recommendations raised suspicion of a cardiac abnormality in 40.4% of BAs and 16.2% of WAs. The Seattle criteria reduced abnormal ECGs to 18.4% in BAs and 7.1% in WAs. The refined criteria further reduced abnormal ECGs to 11.5% in BAs and 5.3% in WAs. All 3 criteria identified 98.1% of athletes with hypertrophic cardiomyopathy. Compared with ESC recommendations, the refined criteria improved specificity from 40.3% to 84.2% in BAs and from 73.8% to 94.1% in WAs without compromising the sensitivity of the ECG in detecting pathology. CONCLUSION: Refinement of current ECG screening criteria has the potential to significantly reduce the burden of false-positive ECGs in athletes, particularly BAs.

Reversible de novo left ventricular trabeculations in pregnant women: implications for the diagnosis of left ventricular noncompaction in low-risk populations.

BACKGROUND: Patients with heart failure and chronic anemia frequently demonstrate left ventricular (LV) trabeculations, which may be compatible with the diagnosis of LV noncompaction. We used the pregnancy model, which is characterized by a reversible increase in cardiac preload and other changes in cardiac function, to assess the development of de novo LV trabeculations in women with morphologically normal hearts. METHODS AND RESULTS: One hundred two primigravida pregnant women were evaluated longitudinally with a series of echocardiograms in the first trimester, in the third trimester, and postpartum. Echocardiograms were analyzed according to established guidelines. Increased LV trabeculations and the presence of LV noncompaction were based on established criteria. Pregnancy was associated with an increased heart rate, stroke volume, and cardiac output, as well as increased LV volume and mass. During pregnancy, 26 women (25.4%) developed increased trabeculations. Eight women showed sufficient trabeculations to fulfill criteria for LV noncompaction. During the postpartum follow-up period of 24±3 months, 19 women (73%) demonstrated complete resolution of trabeculations, and 5 showed a marked reduction in the trabeculated layer. CONCLUSIONS: Pregnancy induces de novo LV trabeculations in a significant proportion of women. The results suggest that LV trabeculations occur in response to increased LV loading conditions or other physiological responses to pregnancy and are not specific for LV noncompaction. These factors should be considered in the assessment of individuals with LV trabeculations outside the context of symptoms of heart failure or familial cardiomyopathy.

Physiological right ventricular adaptation in elite athletes of African and Afro-Caribbean origin.

BACKGROUND: Regular, intensive exercise results in physiological biventricular cardiac adaptation. Ethnicity is an established determinant of left ventricular remodeling; black athletes (BAs) exhibit more profound LV hypertrophy than white athletes (WAs). Right ventricular (RV) remodeling has not been characterized in BAs, although the issue is pertinent because BAs commonly exhibit ECG anomalies that resemble arrhythmogenic RV cardiomyopathy. METHODS AND RESULTS: Between 2006 and 2012, 300 consecutive BAs (n=243 males) from 25 sporting disciplines were evaluated by use of ECG and echocardiography. Results were compared with 375 WAs and 153 sedentary control subjects (n=69 blacks). There were no ethnic differences between RV parameters in control subjects. Both BAs and WAs exhibited greater RV dimensions than control subjects. RV dimensions were marginally smaller in BAs than in WAs (proximal outflow tract, 30.9±5.5 versus 32.8±5.3 mm, P<0.001; longitudinal dimension, 86.6±9.5 versus 89.8±9.6 mm, P<0.001), although only 2.3% of variation was attributable to ethnicity. RV enlargement compatible with diagnostic criteria for arrhythmogenic RV cardiomyopathy was frequently observed (proximal outflow tract ≥32 mm; 45.0% of BAs, 58.5% of WAs). Anterior T-wave inversion was present in 14.3% of BAs versus 3.7% of WAs (P<0.001). Marked RV enlargement with concomitant anterior T-wave inversion was observed in 3.0% of BAs versus 0.3% of WAs (P=0.005). Further investigation did not diagnose arrhythmogenic RV cardiomyopathy in any athlete. CONCLUSIONS: Physiological RV enlargement is commonly observed in both black and white athletes. The impact of ethnicity is minimal, which obviates the need for race-specific RV reference values. However, in the context of frequent ECG repolarization anomalies in BAs, the potential for erroneous diagnosis of arrhythmogenic RV cardiomyopathy is considerably greater in this ethnic group.

Should axis deviation or atrial enlargement be categorised as abnormal in young athletes? The athlete's electrocardiogram: time for re-appraisal of markers of pathology.

AIMS: The 2010 European Society of Cardiology (ESC) guidelines for electrocardiogram (ECG) interpretation in athletes are associated with a relatively high false positive rate and warrant modification to improve the specificity without compromising sensitivity. The aim of this study was to investigate whether non-specific anomalies such as axis deviation and atrial enlargement in isolation require further assessment in highly trained young athletes. METHOD AND RESULTS: Between 2003 and 2011, 2533 athletes aged 14-35 years were investigated with 12-lead ECG and echocardiography. Electrocardiograms were analysed for non-training-related (Group 2) changes according to the 2010 ESC guidelines. Results were compared with 9997 asymptomatic controls. Of the 2533 athletes, 329 (13%) showed Group 2 ECG changes. Isolated axis deviation and isolated atrial enlargement comprised 42.6% of all Group 2 changes. Athletes revealed a slightly higher prevalence of these anomalies compared with controls (5.5 vs. 4.4%; P = 0.023). Echocardiographic evaluation of athletes and controls with isolated axis deviation or atrial enlargement (n = 579) failed to identify any major structural or functional abnormalities. Exclusion of axis deviation or atrial enlargement reduced the false positive rate from 13 to 7.5% and improved specificity from 90 to 94% with a minimal reduction in sensitivity (91-89.5%). CONCLUSION: Isolated axis deviation and atrial enlargement comprise a high burden of Group 2 changes in athletes and do not predict underlying structural cardiac disease. Exclusion of these anomalies from current ESC guidelines would improve specificity and cost-effectiveness of pre-participation screening with ECG.

Clinical significance of electrocardiographic right ventricular hypertrophy in athletes: comparison with arrhythmogenic right ventricular cardiomyopathy and pulmonary hypertension.

AIMS: Pre-participation cardiovascular screening of young athletes may prevent sports-related sudden cardiac deaths. Recognition of physiological electrocardiography (ECG) changes in healthy athletes has improved the specificity of screening while maintaining sensitivity for disease. The study objective was to determine the clinical significance of electrocardiographic right ventricular hypertrophy (RVH) in athletes. METHODS AND RESULTS: Between 2010 and 2012, 868 subjects aged 14-35 years (68.8% male) were assessed using ECG and echocardiography (athletes; n = 627, sedentary controls; n = 241). Results were compared against patients with established right ventricular (RV) pathology (arrhythmogenic right ventricular cardiomyopathy, n = 68; pulmonary hypertension, n = 30). Sokolow-Lyon RVH (R[V1]+S[V5orV6] > 1.05 mV) was more prevalent in athletes than controls (11.8 vs. 6.2%, P = 0.017), although RV wall thickness (RVWT) was similar (4.0 ± 1.0 vs. 3.9 ± 0.9 mm, P = 0.18). Athletes exhibiting electrocardiographic RVH were predominantly male (95.9%), and demonstrated similar RV dimensions and function to athletes with normal electrocardiograms (RVWT; 4.0 ± 1.1 vs. 4.0 ± 0.9 mm, P = 0.95, RV basal dimension; 42.7 ± 5.2 vs. 42.1 ± 5.9 mm, P = 0.43, RV fractional area change; 40.6 ± 7.6 vs. 42.2 ± 8.1%, P = 0.14). Sensitivity and specificity of Sokolow-Lyon RVH for echocardiographic RVH (>5 mm) were 14.3 and 88.2%, respectively. Further evaluation including cardiac magnetic resonance imaging did not diagnose right ventricular pathology in any athlete. None of the cardiomyopathic or pulmonary hypertensive patients exhibited voltage RVH without additional ECG abnormalities. CONCLUSION: Electrocardiographic voltage criteria for RVH are frequently fulfilled in healthy athletes without underlying RV pathology, and should not prompt further evaluation if observed in isolation. Recognition of this phenomenon should reduce the burden of investigations after pre-participation ECG screening without compromising sensitivity for disease.

Implementing a clinical scientist-led screening clinic for hypertrophic and dilated cardiomyopathies.

BACKGROUND: The burden of screening for inherited cardiac conditions on health services grows ever larger, with each new diagnosis necessitating screening of additional family members. Screening these usually asymptomatic, low-risk individuals is currently performed by consultant cardiologists, consuming vital clinic resources that could otherwise be diverted to sicker patients requiring specialist consultant input. Clinical scientists now constitute a highly skilled and often underutilised group of individuals with training in areas such as clinical evaluation, 12-lead electrocardiography (ECG) interpretation, and echocardiography. These skills place them in a unique position to offer a full screening evaluation in a single consultation. The aim of this study was to implement and evaluate a novel clinical scientist-led screening clinic for first-degree relatives of patients with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). The clinical scientist-led screening clinic was established at a London tertiary centre to allow review of asymptomatic, first-degree relatives of patients with a confirmed diagnosis of HCM or DCM, independent of a cardiology consultant. Patients were evaluated with history, examination, ECG, and echocardiography, with further investigations if deemed necessary. A retrospective review was performed of the first 200 patients seen in the clinic. RESULTS: Of the 200 individuals reviewed between September 2019 and July 2022, 99 had a proband with HCM and 101 a proband with DCM. Overall, 169 individuals (85%) revealed normal screenings and were discharged. Thirty-one individuals (15.5%), all asymptomatic, revealed ECG changes and/or significant echocardiographic findings. Of these, 21 individuals (10.5% of the total cohort) were subsequently diagnosed with a cardiomyopathy or early phenotypic changes consistent with a cardiomyopathy (11 with HCM and 10 with DCM). These individuals were referred on to an inherited cardiac conditions consultant clinic for regular follow-up. Overall, 179 consultant clinic appointments were saved which could instead be allocated to patients requiring specialist consultant input. CONCLUSIONS: This is the first description of a clinical scientist-led screening clinic for first-degree relatives of patients with HCM and DCM. The findings demonstrate that implementation of such a service into routine clinical practice is feasible, effective, safe, and can free up capacity in consultant clinics for patients requiring specialist input.

Capacity building for pediatric neuro-oncology in Pakistan- a project by my child matters program of Foundation S.

Introduction: Initiated in June 2019, this collaborative effort involved 15 public and private sector hospitals in Pakistan. The primary objective was to enhance the capacity for pediatric neuro-oncology (PNO) care, supported by a My Child Matters/Foundation S grant. Methods: We aimed to establish and operate Multidisciplinary Tumor Boards (MTBs) on a national scale, covering 76% of the population (185.7 million people). In response to the COVID-19 pandemic, MTBs transitioned to videoconferencing. Fifteen hospitals with essential infrastructure participated, holding monthly sessions addressing diagnostic and treatment challenges. Patient cases were anonymized for confidentiality. Educational initiatives, originally planned as in-person events, shifted to a virtual format, enabling continued implementation and collaboration despite pandemic constraints. Results: A total of 124 meetings were conducted, addressing 545 cases. To augment knowledge, awareness, and expertise, over 40 longitudinal lectures were organized for healthcare professionals engaged in PNO care. Additionally, two symposia with international collaborators and keynote speakers were also held to raise national awareness. The project achieved significant milestones, including the development of standardized national treatment protocols for low-grade glioma, medulloblastoma, and high-grade glioma. Further protocols are currently under development. Notably, Pakistan's first pediatric neuro-oncology fellowship program was launched, producing two graduates and increasing the number of trained pediatric neuro-oncologists in the country to three. Discussion: The initiative exemplifies the potential for capacity building in PNO within low-middle income countries. Success is attributed to intra-national twinning programs, emphasizing collaborative efforts. Efforts are underway to establish a national case registry for PNO, ensuring a comprehensive and organized approach to monitoring and managing cases. This collaborative initiative, supported by the My Child Matters/Foundation S grant, showcases the success of capacity building in pediatric neuro-oncology in low-middle income countries. The establishment of treatment protocols, fellowship programs, and regional tumor boards highlights the potential for sustainable improvements in PNO care.

Cardiac adaptation to exercise in adolescent athletes of African ethnicity: an emergent elite athletic population.

BACKGROUND/AIMS: Adult black athletes (BA) exhibit left ventricular hypertrophy (LVH) on echocardiography and marked ECG repolarisation changes resembling those observed in hypertrophic cardiomyopathy (HCM). Limited data are available for adolescent BA, the group most vulnerable to exercise-related sudden cardiac death. METHODS: Between 1996 and 2011, 245 male and 84 female adolescent BA from a wide variety of sporting disciplines underwent cardiac evaluation including ECG and echocardiography. Athletes exhibiting T-wave inversions and/or echocardiographic LVH were investigated further for quiescent cardiomyopathies. Results were compared with 903 adolescent white athletes (WA) and 134 adolescent sedentary black controls (BC). RESULTS: LVH on echocardiography was present in 7% of BA compared to only 0.6% of WA and none of the BC. In the very young (<16 years), 5.5% of BA, but none of the WA, demonstrated LVH. Within the BA group, LVH was more prevalent in men compared to women (9% vs 1.2%, p=0.012). T-wave inversions were present in 22.8% BA, 4.5% WA and 13.4% BC. T-wave inversions in BA occurred with similar frequency in men and women and were predominantly confined to leads V1-V4. T-wave inversions in the lateral leads, commonly associated with cardiomyopathies, were present in 2.4% of BA. On a further evaluation and mean follow-up of 8.3 years, none of the athletes exhibited HCM. CONCLUSIONS: Athletic training has a pronounced effect on adolescent BA. Black athletes as young as 14 years of age may exhibit left ventricular wall thicknesses of 15 mm and marked repolarisation changes resembling HCM. Male and female BA demonstrate a high prevalence of T-wave inversions.

Peripheral vascular structure and function in hypertrophic cardiomyopathy.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is characterised by idiopathic cardiac enlargement and represents the most frequent cause of sudden cardiac death in athletes under the age of 35 years. Differentiation between physiological (ie, exercise-related) and pathological (ie, HCM-related) cardiac remodelling is challenging. In line with cardiac remodelling, vascular structure and function are altered following training, but little is known about peripheral vascular adaptations in HCM. We hypothesised that, while HCM patients and athletes would exhibit similar cardiac characteristics, differences would be apparent in their brachial and carotid arteries. METHODS: In age-matched groups of HCM patients (n = 18, 39 ± 15 years), highly competitive athletes (n = 18, 38 ± 12 years) and recreational controls (n = 10, 37 ± 14 years), we used high-resolution ultrasound to assess the diameter and wall thickness of the carotid and brachial arteries, with flow-mediated dilator function (FMD) of the brachial arteries also assessed. RESULTS: A significant difference between athletes and HCM was evident in arterial wall thickness (carotid 519 ± 60 vs 586 ± 102 µm, p<0.05; brachial 345 ± 80 vs 456 ± 76 µm, p<0.05) and the brachial artery peak blood flow response following forearm ischaemia, an index of resistance artery remodelling (998 ± 515 vs 725 ± 248 ml/min, p<0.05). Similar differences were noted between athletes and controls, while controls and HCM did not differ. Brachial FMD% was not different between groups. CONCLUSIONS: Athletes and HCM subjects, who can be difficult to differentiate on the basis of cardiac measures, exhibit differences in indices of arterial structure. While this may be a disease-related effect, we cannot discount a generic impact of physical activity on arterial structure, as the athlete's arteries were also different to untrained control subjects. Future studies should assess artery function and structure in athletic HCM subjects.

Prevalence and clinical correlates of exercise-induced ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy.

Exercise has a deleterious effect on the phenotypic expression of arrhythmogenic right ventricular cardiomyopathy (ARVC) and increases the risk of sudden death. The aim of the study was to determine the prevalence and correlates of exercise-induced arrhythmias during exercise tolerance test (ETT) in patients with ARVC. Between 2010 and 2019, 30 (47% males, mean age 42 ± 12 years) consecutive patients with a definite diagnosis of ARVC underwent a full genotypic and phenotypic characterization at our center. Exercise-induced arrhythmic response (EIAR) was defined by the development of complex or repetitive ventricular arrhythmias after stage 2 of exercise. A heart rate ≥ 85% of predicted was achieved by 23 (77%) patients. In 16 (53%) cases, a desmosomal pathogenic variant was found [most commonly PKP2 (n = 7) and DSP (n = 3)]. In 12 (40%) cases, an EIAR was observed. In 2 (6%) patients, ETT was interrupted due to the onset of ventricular tachycardia (sustained with a LBBB/inferior axis pattern in one case, and non-sustained LBBB/superior axis pattern in the other). Mean body surface area (BSA)-indexed left ventricular (LV) end-diastolic volumes (EDV) were higher in the EIAR group (92 ± 12 ml/m2 vs 80 ± 7 ml/m2, p = 0.002), as well as right ventricular EDV/BSA (110 ± 18 ml/m2 vs 91 ± 27 ml/m2, p = 0.04). Subepicardial/mid-wall LV late gadolinium enhancement (LGE) was more common in the EIAR group (67% vs 22%, p = 0.01). ARVC patients commonly exhibit exercise-induced ventricular arrhythmias. Patients with more significant RV remodeling and LV involvement (based on the presence of LV dilatation and LGE) appear more susceptible to exercise-induced arrhythmias.

Arrhythmogenic cardiomyopathy and differential diagnosis with physiological right ventricular remodelling in athletes using cardiovascular magnetic resonance.

To describe the overlap between structural abnormalities typical of arrhythmogenic right ventricular cardiomyopathy (ARVC) and physiological right ventricular adaptation to exercise and differentiate between pathologic and physiologic findings using CMR. We compared CMR studies of 43 patients (mean age 49 ± 17 years, 49% males, 32 genotyped) with a definitive diagnosis of ARVC with 97 (mean age 45 ± 16 years, 61% males) healthy athletes. CMR was abnormal in 37 (86%) patients with ARVC, but only 23 (53%) fulfilled a major or minor CMR criterion according to the TFC. 7/20 patients who did not fulfil any CMR TFC showed pathological finding (RV RWMA and fibrosis in the LV or LV RWMA). RV was affected in isolation in 17 (39%) patients and 18 (42%) patients showed biventricular involvement. Common RV abnormalities included RWMA (n = 34; 79%), RV dilatation (n = 18; 42%), RV systolic dysfunction (≤ 45%) (n = 17; 40%) and RV LGE (n = 13; 30%). The predominant LV abnormality was LGE (n = 20; 47%). 22/32 (69%) patients exhibited a pathogenic variant: PKP2 (n = 17, 53%), DSP (n = 4, 13%) and DSC2 (n = 1, 3%). Sixteen (16%) athletes exceeded TFC cut-off values for RV volumes. None of the athletes exceeded a RV/LV end-diastolic volume ratio > 1.2, nor fulfilled TFC for impaired RV ejection fraction. The majority (86%) of ARVC patients demonstrate CMR abnormalities suggestive of cardiomyopathy but only 53% fulfil at least one of the CMR TFC. LV involvement is found in 50% cases. In athletes, an RV/LV end-diastolic volume ratio > 1.2 and impaired RV function (RVEF ≤ 45%) are strong predictors of pathology.

Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry.

AIMS: The interaction between common cardiovascular risk factors (CVRF) and hypertrophic cardiomyopathy (HCM) is poorly studied. We sought to explore the relation between CVRF and the clinical characteristics of patients with HCM enrolled in the EURObservational Research Programme (EORP) Cardiomyopathy registry. METHODS AND RESULTS: 1739 patients with HCM were studied. The relation between hypertension (HT), diabetes (DM), body mass index (BMI), and clinical traits was analysed. Analyses were stratified according to the presence or absence of a pathogenic variant in a sarcomere gene. The prevalence of HT, DM, and obesity (Ob) was 37, 10, and 21%, respectively. HT, DM, and Ob were associated with older age (P<0.001), less family history of HCM (HT and DM P<0.001), higher New York Heart Association (NYHA) class (P<0.001), atrial fibrillation (HT and DM P<0.001; Ob p = 0.03) and LV (left ventricular) diastolic dysfunction (HT and Ob P<0.001; DM P = 0.003). Stroke was more frequent in HT (P<0.001) and mutation-positive patients with DM (P = 0.02). HT and Ob were associated with higher provocable LV outflow tract gradients (HT P<0.001, Ob P = 0.036). LV hypertrophy was more severe in Ob (P = 0.018). HT and Ob were independently associated with NYHA class (OR 1.419, P = 0.017 and OR 1.584, P = 0.004, respectively). Other associations, including a higher proportion of females in HT and of systolic dysfunction in HT and Ob, were observed only in mutation-positive patients. CONCLUSION: Common CVRF are associated with a more severe HCM phenotype, suggesting a proactive management of CVRF should be promoted. An interaction between genotype and CVRF was observed for some traits.