Long-Term Evaluation of Lipid Profile Changes in Olympic Athletes.

Dyslipidemia is a major contributor to the development of atherosclerotic cardiovascular disease. Despite high level of physical activity, athletes are not immune from dyslipidemia, but longitudinal data on the variation of lipids are currently lacking. We sought to assess lipid profile changes over time in Olympic athletes practicing different sports disciplines (power, skills, endurance, and mixed). We enrolled 957 consecutive athletes evaluated from London 2012 to Beijing 2022 Olympic Games. Dyslipidemia was defined as low-density lipoprotein (LDL) ≥115 mg/dl, high-density lipoprotein (HDL) <40 mg/dl for males, or HDL <50 mg/dl for females. Hypertriglyceridemia was defined as triglycerides >150 mg/dl. At the follow-up, a variation of ±40 mg/dl for LDL, ±6 mg/dl for HDL, and ±50 mg/dl for triglycerides was considered relevant. Athletes with follow-up <10 months or taking lower lipid agents were excluded. Follow-up was completed in 717 athletes (74.9%), with a mean duration of 55.6 months. Mean age was 27.2 ± 4.8 years old, 54.6% were male (n = 392). Overall, 19.8% (n = 142) athletes were dyslipidemic at both blood tests, being older, practicing nonendurance sports, and predominantly male. In 69.3% (n = 129) of those with elevated LDL at t0, altered values were confirmed at follow-up, while the same occurred in 36.5% (n = 15) with hypo-HDL and 5.3% (n = 1) in those with elevated triglycerides. Weight and fat mass percentage modifications did not affect lipid profile variation. LDL hypercholesterolemia tends to persist over time especially among male, older, and nonendurance athletes. LDL hypercholesterolemia detection in athletes should prompt early preventive intervention to reduce the risk of future development of atherosclerotic disease.

Assessment of cardiopulmonary capacity in deconditioned athletes because of knee injury.

BACKGROUND: An athlete's career inevitably goes through periods of forced physical exercise interruption like a knee injury. Advanced echocardiographic methods and cardiopulmonary exercise testing (CPET) are essential in evaluating athletes in the period elapsing after the injury. However, the feasibility of a maximal pre-surgery CPET and the capacity of resting advanced echocardiographic techniques to predict cardiorespiratory capacity still need to be clarified. METHODS: We evaluated 28 non-professional athletes aged 18-52, involved in prevalently aerobic or alternate aerobic/anaerobic sports activities, affected by a knee pathology with indications for surgical treatment. The evaluation was performed at rest by trans-thoracic echocardiography, including global longitudinal strain (GLS) and myocardial work (MW) assessment, and during exercise by CPET. RESULTS: The percent-predicted peak oxygen consumption (peak VO2%) was 82.8±13.7%, the mean respiratory exchange ratio was 1.16±0.08, and the mean ventilation/carbon dioxide (VE/VCO2) slope was 24.23±3.36. Peak VO2% negatively correlated with GLS (r=-0.518, P=0.003) and global wasted work (GWW) (r =-0.441, P=0.015) and positively correlated with global work efficiency (GWE) (r=0.455, P=0.012). Finally, we found that the VE/VCO2 slope during exercise was negatively correlated with GWE (r=-0.585, P=0.001) and positively correlated with GWW (r=0.499, P=0.005). CONCLUSIONS: A maximal CPET can be obtained in deconditioned athletes because of a knee injury, allowing a comprehensive functional pre-surgery evaluation. In these patients, peak VO2 is reduced due to decreased physical activity after injury; however, a lower cardiopulmonary efficiency may be a concause of the injury itself. In addition, we demonstrated that the MW indexes obtained at rest could predict exercise capacity and ventilatory efficiency as evaluated by CPET.

Electrocardiographic alterations in chronic obstructive pulmonary disease.

Chronic obstructive pulmonary disease (COPD) is a leading cause of morbidity and mortality, and its incidence has grown within several years, quickly becoming the third leading cause of mortality. The disease is characterized by alveolar destruction, air-trapping, and chronic inflammation due to persistent exposure to a large spectrum of harmful particles. The diagnosis of COPD is made by demonstration of persistent and not fully reversible airflow limitation, and different phenotypes may be recognized based on pathophysiological, clinical, and radiological features. However, COPD is a systemic disease with effects involving several organs. For example, mechanical and functional alterations secondary to COPD involve heart function. Indeed, cardiovascular diseases are highly prevalent in patients affected by COPD and represent the primary cause of mortality in such patients. An electrocardiogram is a simple and cheap test that gives much information about the heart status of COPD patients. Consequently, variations from "normality" can be appreciated in these patients, with the most frequent abnormalities being P-wave, QRS axis, and ventricular repolarization abnormalities, in addition to conduction alterations and a vast number of arrhythmias. As a result, ECG should be routinely performed as a valuable tool to recognize alterations due to COPD (i.e., mechanical and functional) and possible associated heart diseases. This review aims to describe the typical ECG features in most COPD patients and to provide a systematic summary that can be used in clinical practice.

Severe heart failure and intracardiac thrombosis: going beyond the appearance for diagnosis and treatments.

We describe the case of a 45-year-old female affected by asthma and nasal polyposis who presented to the emergency department because of worsening dyspnea and paresthesia of the left lower limb. Comprehensive instrumental examinations revealed the presence of severe left ventricle dysfunction, intra-cardiac thrombus, deep vein thrombosis, pulmonary embolism, lung infiltrates, polyserositis, and neurological involvements. Finally, the patient was diagnosed with eosinophilic granulomatosis with polyangiitis (EGPA), formerly Churg-Strauss syndrome, a rare vasculitis of small-medium blood vessels with several organ involvements. Treatment with anticoagulants, corticosteroids, and cyclophosphamide led to a significant clinical improvement. However, a subcutaneous cardiac defibrillator was implanted because of the persistence of severe left ventricular dysfunction and the high cardiovascular risk phenotype. Indeed, several cardiac manifestations may occur in EGPA, particularly in patients with anti-neutrophil cytoplasmic antibody-negative disease. Therefore, clinicians should have high clinical suspicion because cardiac involvement in EGPA results in a poor prognosis if not diagnosed and adequately treated.

The current paradigm of cardiac troponin increase among athletes.

Although it is known that exercise improves cardiovascular health and extends life expectancy, a significant number of people may also experience an elevation in cardiac troponin levels as a result of exercise. For many years, researchers have argued whether exercise-induced cardiac troponin rises are a consequence of a physiological or pathological reaction and whether they are clinically significant. Differences in cardiac troponin elevation and cardiac remodeling can be seen between athletes participating in different types of sports. When forecasting the exercise-induced cardiac troponin rise, there are many additional parameters to consider, as there is a large amount of interindividual heterogeneity in the degree of cardiac troponin elevation. Although it was previously believed that cardiac troponin increases in athletes represented a benign phenomenon, numerous recent studies disproved this notion by demonstrating that, in specific individuals, cardiac troponin increases may have clinical and prognostic repercussions. This review aims to examine the role of cardiac troponin in athletes and its role in various sporting contexts. This review also discusses potential prognostic and clinical implications, as well as future research methods, and provides a straightforward step-by-step algorithm to help clinicians interpret cardiac troponin rise in athletes in both ischemic and non-ischemic circumstances.

Lack of cardiac remodelling in elite endurance athletes: an unexpected and not so rare finding.

PURPOSE: Endurance elite athletes are expected to present a cardiac remodelling, characterized by eccentric hypertrophy (EH), may be associated with higher sportive performances. However, not all can present a cardiac remodelling. The study aimed to identify endurance athletes without cardiac remodelling characterizing their physiologic and clinical features. METHODS: We studied 309 endurance athletes (cycling, rowing, canoeing, triathlon, athletics, long-distance swimming, cross-country skiing, mid-long distance track, pentathlon, biathlon, long-distance skating and Nordic-combined) examined during period of training, by clinical evaluation, ECG, echocardiogram and exercise-stress test. Sport career achievements (Olympic\World championship medals or national\world records) were recorded. RESULTS: EH was found in most of athletes, (n = 126, 67% of males; n = 85, 68.5% of females). A significant proportion,, exhibited normal geometry (NG) ( n = 59, 31.3% in males; n = 39, 31.4% in females). At stress test, significant differences between EH and NG athletes were found in peak power (317.1 ± 71.2W in NG vs. 342.2 ± 60.6W in EH, p = 0.014 in males and 225.1 ± 38.7W in NG vs. 247.1 ± 37W in EH, p = 0.003 in females), rest heart rate (66.1 ± 13 in NG vs. 58.6 ± 11.6 in EH, p = 0.001 in males and 68 ± 13.2 in NG vs. 59.2 ± 11.2 in EH, p = 0.001 in females) with similar ventricular extrasystoles (p = 0.363 in males and p = 0.492 in females). However, no significant differences in athletic achievements were registered. CONCLUSION: Our study demonstrates a relatively high prevalence of NG in endurance athletes, in addition to the expected EH. Athletes with NG perform worse in exercise-stress test and exhibit some less advantageous functional heart characteristics. However, the type of heart geometry is not associated with negative clinical findings.

Influence of the Type of Disability and Sporting Discipline on Lipid Profile in a Cohort of Italian Paralympic Athletes.

Dyslipidemia is the most frequent cardiovascular (CV) risk factor in able-bodied athletes and is frequently undertreated, resulting in an underestimated risk of atherosclerosis-related diseases. Data on lipid profile in Paralympic athletes are lacking. Our study aimed to identify the prevalence of dyslipidemia and the influence of disability type and sporting discipline in Paralympic athletes. We evaluated 289 athletes who participated in the Paralympic Games from London 2012 to Beijing 2022. All athletes underwent clinical/physical evaluation, blood tests, and body composition analysis. They were divided into different groups based on sports disciplines and disability type (spinal cord injuries [SCIs] and non-SCIs [NSCIs]). Among the Paralympic athletes, 34.6% had a low-density lipoprotein (LDL) level ≥115 mg/100 ml. They were older (38.1 ± 9.2 vs 30.6 ± 9.6, p = 0.001) and had a higher CV risk. Athletes with SCI showed similar total cholesterol and triglycerides, higher LDL (110.9 ± 35.2 vs 102.7 ± 30.6 mg/100 ml, p = 0.03) and lower high-density lipoprotein (HDL) (53.6 ± 13.6 vs 60.5 ± 15.4 mg/100 ml, p = 0.001) than those with NSCI. Endurance athletes had lower LDL, the highest HDL, and the lowest triglycerides and LDL/HDL ratio compared with other sports disciplines. A mean follow-up of 61.5 ± 30.5 months was available in 47% athletes, and 72.7% of the athletes with dyslipidemia continued to present altered LDL values at follow-up. In conclusion, dyslipidemia is the most common CV risk factor in the Paralympics, affecting 35% of athletes, with only mild lipid changes over a medium-term time. The type of disability and sporting discipline has an impact on lipids, improving HDL and reducing LDL, with a better profile observed in NSCI and endurance athletes.

Eosinophilic Myocarditis: From Bench to Bedside.

Myocarditis is a polymorphic and potentially life-threatening disease characterized by a large variability in clinical presentation and prognosis. Within the broad spectrum of etiology, eosinophilic myocarditis represents a rare condition characterized by eosinophilic infiltration of the myocardium, usually associated with peripheral eosinophilia. Albeit uncommon, eosinophilic myocarditis could be potentially life-threatening, ranging from mild asymptomatic disease to multifocal widespread infiltrates associated with myocardial necrosis, thrombotic complications, and endomyocardial fibrosis. Moreover, it could progress to dilated cardiomyopathy, resulting in a poor prognosis. The leading causes of eosinophilic myocarditis are hypersensitivity reactions, eosinophilic granulomatosis with polyangiitis, cancer, hyper-eosinophilic syndrome variants, and infections. A thorough evaluation and accurate diagnosis are crucial to identifying the underlying cause and defining the appropriate therapeutic strategy. On these bases, this comprehensive review aims to summarize the current knowledge on eosinophilic myocarditis, providing a schematic and practical approach to diagnosing, evaluating, and treating eosinophilic myocarditis.

Left ventricular inferior wall congenital diverticula in athletes: a case series and review of the literature.

Background: Congenital left ventricular diverticula (LVDs) and aneurysms (LVAs) are rare, developmental, cardiac anomalies, which are often asymptomatic. Sometimes they can cause life-threatening complications like arrhythmias, syncope, embolic events, ventricular wall rupture, valvular regurgitation, congestive heart failure, and various symptoms. Diagnosis is usually made after exclusion of acquired causes, from cardiac or non-cardiac disorders. Specific guidelines for LVD/LVA management are not available and treatment options are guided by different case-by-case clinical presentation and possible complications. Case summary: We present a series of two patients with occasional diagnosis of diverticula of the inferior basal left ventricular wall in the context of cardiological evaluations for competitive sport certificate. Symptoms were present at clinical evaluation only in Patient 1, together with electrocardiogram (ECG) abnormality. We performed transthoracic echocardiography as a first-line examination and secondly, we confirmed the diverticula by cardiac magnetic resonance. A maximal stress test and 24 h ECG Holter were also performed.In our case, in light of the clinical-instrumental findings, periodic medical and echocardiographic follow-up without therapy was established, together with the resumption of sports activities. Discussion: Nowadays, no specific recommendations exist in athletes and no studies are available on how regular sport practice can influence natural history of LVD/LVA. The current case series highlights the importance of risk stratification for cardiac events, of a multimodal imaging approach in diagnostic procedure and of a tailored treatment strategy.

Traditional and Advanced Echocardiographic Evaluation in Chronic Obstructive Pulmonary Disease: The Forgotten Relation.

Chronic obstructive pulmonary disease (COPD) is a significant preventable and treatable clinical disorder defined by a persistent, typically progressive airflow obstruction. This disease has a significant negative impact on mortality and morbidity worldwide. However, the complex interaction between the heart and lungs is usually underestimated, necessitating more attention to improve clinical outcomes and prognosis. Indeed, COPD significantly impacts ventricular function, right and left chamber architecture, tricuspid valve functionality, and pulmonary blood vessels. Accordingly, more emphasis should be paid to their diagnosis since cardiac alterations may occur very early before COPD progresses and generate pulmonary hypertension (PH). Echocardiography enables a quick, noninvasive, portable, and accurate assessment of such changes. Indeed, recent advancements in imaging technology have improved the characterization of the heart chambers and made it possible to investigate the association between a few cardiac function indexes and clinical and functional aspects of COPD. This review aims to describe the intricate relation between COPD and heart changes and provide basic and advanced echocardiographic methods to detect early right ventricular and left ventricular morphologic alterations and early systolic and diastolic dysfunction. In addition, it is crucial to comprehend the clinical and prognostic significance of functional tricuspid regurgitation in COPD and PH and the currently available transcatheter therapeutic approaches for its treatment. Moreover, it is also essential to assess noninvasively PH and pulmonary resistance in patients with COPD by applying new echocardiographic parameters. In conclusion, echocardiography should be used more frequently in assessing patients with COPD because it may aid in discovering previously unrecognized heart abnormalities and selecting the most appropriate treatment to improve the patient's symptoms, quality of life, and survival.

Prevalence of Hyperuricemia and Associated Cardiovascular Risk Factors in Elite Athletes Practicing Different Sporting Disciplines: A Cross-Sectional Study.

Uricemia has been identified as an independent risk factor for cardiovascular disease. In the general population, hyperuricemia is associated with hypertension, endothelial dysfunction, and other cardiovascular risk (CVR) factors. Our aim was to explore the prevalence of hyperuricemia among Olympic athletes, evaluating the influence of sporting discipline and its correlation with CVR factors. We enrolled 1173 Olympic athletes classified into four disciplines: power, skill, endurance, and mixed. Clinical, anthropometric data, and complete blood test results were collected. Hyperuricemia was present in 4.4% of athletes, 0.3% were hypertensive, 11.7% had high-normal blood pressure values, 0.2% were diabetic, 1.2%. glucose intolerance, 8.2% active smokers, and 3% were obese. Males had a higher prevalence of hyperuricemia (5.3%) than females (3.4%) with no significant differences between different sporting disciplines (male, p = 0.412; female p = 0.561). Males with fat mass >22% presented higher uricemia (5.8 ± 1 vs. 5.3 ± 1 mg/dL, p = 0.010) like hypertensive athletes (6.5 ± 0.3 vs. 5.3 ± 1 mg/dL, p = 0.031), those with high-normal blood pressure (5.13 ± 1 vs. 4.76 ± 1.1 mg/dL, p = 0.0004) and those with glucose intolerance (6 ± 0.8 vs. 5.3 ± 1 mg/dL, p = 0.066). The study provides a comprehensive evaluation of hyperuricemia among Olympic athletes, revealing a modest prevalence, lower than in the general population. However, aggregation of multiple CVR factors could synergistically elevate the risk profile, even in a population assumed to be at low risk. Therefore, uric acid levels should be monitored as part of the CVR assessment in athletes.

Alternative lipid lowering strategies: State-of-the-art review of red yeast rice.

Red yeast rice (RYR) is an entirely natural product that originates from the fermentation of white rice (Oryza sativa) with a yeast, mainly Monascus Purpureus, and has been part of traditional Chinese medicine and diet since ancient times. It has generated great interest in recent years in the context of cardiovascular (CV) prevention due to its ability to inhibit endogenous cholesterol production, helping to achieve and maintain optimal plasma lipid concentrations. This review aims to make an extensive 360-degree assessment and summary of the whole currently available scientific evidence about RYR, starting with its biochemical composition, passing through a historical reconstruction of all the studies that have evaluated its efficacy and safety in cholesterol-lowering action, with a focus on CV outcomes, and ultimately addressing its other relevant clinical effects. We also discuss its possible therapeutic role, alone or in combination with other nutraceuticals, in different clinical scenarios, taking into account the positions of major scientific documents on the issue, and describe the articulate legal controversies that have characterized the regulation of its use up to the present day. RYR preparations have been proven safe and effective in improving lipid profile, with a potential role in reducing cardiovascular risk. They can be considered as additional supportive agents in the armamentarium of lipid-modifying therapies.

Influence of isometric versus isotonic exercise training on right ventricular morpho-functional parameters in Olympic athletes.

BACKGROUND: Cardiovascular adaptations in elite athletes involve both ventricular and atrial changes. Nowadays, limited research exists on right ventricular (RV) remodeling, particularly in female athletes and across different types of exercise training. METHODS: Our study evaluated 370 athletes (61% males) participated at 2020 Tokyo and 2022 Beijing Olympic Games. Athletes were categorized according to main type of exercise into isometric and isotonic. Comprehensive echocardiographic assessments were conducted to analyze RV morpho-functional parameters, comparing genders and different sporting exercise. RESULTS: Significant differences in RV parameters were observed based on exercise type and gender. Isotonic athletes showed greater RV remodeling with larger RV outflow tract (15.1 ± 2.1 vs. 14.5 ± 1.7 mm, p < .0001) end-diastolic and end-systolic area (respectively, 24.6 ± 5.5 vs. 21.7 ± 5 mm, p < .000 and 11.7 ± 3.2 vs. 10.1 ± 2.8 mm, p < .0001) and right atrium size (11.7 ± 3.2 vs. 10.2 ± 2.3 mm2 , p = .0001). Functional parameters, such as TDI velocities, were similar between groups. Males showed larger RV area and right atrium size (p < .0001) and lower RV TDI velocities with reduced E' (15.4 ± 2.9 vs. 16.1 ± 3.2 m/s in females, p = .031), resulting in lower E'/A' ratio (1.69 ± .6 vs. 1.84 ± .6 m/s, p = .021), while S' was lower females (14.6 ± 2.3 vs. 14.1 ± 2.4 m/s, p = .041). RV TDI velocities were similar in isotonic and isometric both in male and females. CONCLUSIONS: In elite athletes, RV morphological changes are influenced by exercise modality but do not translate into functional differences. Female athletes present distinct RV functional profiles, with lower S' velocities and a higher E'/A' ratio. Functional RV TDI parameters are not affected by the typology of exercise practiced.

Cardiovascular and metabolic effects of hyperbilirubinemia in a cohort of Italian Olympic athletes.

INTRODUCTION: Bilirubin was supposed to have cardio-metabolic protective role by signaling functions. Indeed, mild hyperbilirubinemia has immunosuppressive and endocrine activities and may offer protection against oxidative stress-mediated diseases. Gilbert syndrome (GS) has been hypothesized to provide cardio-metabolic benefits. OBJECTIVE: To investigate the prevalence of hyperbilirubinemia and its cardio-metabolic effects in a cohort of elite Italian athletes engaged in different sports disciplines. METHODS: We enrolled 1492 elite athletes (age 25.8 ± 5.1) practising different disciplines (power, skills, endurance, and mixed) underwent blood, echocardiographic, and exercise tests. GS was diagnosed per exclusionem in athletes with isolated asymptomatic unconjugated hyperbilirubinemia. RESULTS: GS was highlighted in 91 athletes (6%; globally 9% male and 2.4% female); 82% were males (p < 0.0001) showing higher indirect bilirubin (0.53 ± 0.4 vs. 0.36 ± 0.24 mg/dL in females, p < 0.0001). GS athletes had fewer platelets (201 ± 35 vs. 214 ± 41, p = 0.01), higher iron (male: 124 ± 44 vs. 100.9 ± 34 mcg/dL, p < 0.0001; female: 143.3 ± 35 vs. 99.9 ± 42 mcg/dL, p < 0.0001), and lower erythrocyte sedimentation rate, (1.93 ± 0.9 vs. 2.80 ± 2.7 mm/H, p = 0.03). At multivariate analysis, male (OR 3.89, p = 0.001) and iron (OR 3.47, p = 0.001) were independently associated with GS. No significant differences were found in cardiac remodeling, heart rate, blood pressure, arrhythmias, or power capacity at stress test. Endurance athletes (313) presented higher total (p = 0.003) and indirect bilirubin (p = 0.001). CONCLUSION: Bilirubin has several metabolic effects (including immunosuppressive and endocrine) and plays a role in regulating antioxidant pathways exercise-related with hematological consequences but seems not to affect significantly cardiovascular remodeling. Endurance athletes present higher bilirubin concentrations, likely as an adaptive mechanism to counteract increased oxidative stress.

Practical Guidance for the Use of SGLT2 Inhibitors in Heart Failure.

Despite continuous advances in both diagnosis and management, heart failure (HF) still represents a major worldwide health issue. Recently, sodium-glucose co-transporter 2 inhibitors (SGLT2i) have demonstrated to reduce cardiovascular death and hospitalization for HF across the entire spectrum of left ventricular ejection fraction. Therefore, dapagliflozin, empagliflozin and sotagliflozin are now recommended as part of the foundational therapy of HF. These agents are characterized by limited contraindications, low cost, non-relevant adverse effects and no need for titration. Although they have a prominent role in the latest recommendations for HF, drug prescriptions are definitely lower than the number of potentially eligible patients. In fact, awareness gaps, therapeutic inertia, concerns about safety and simultaneous initiation of comprehensive medical therapy may represent barriers to their use. This article aims to offer an overview of current knowledge on SGLT2i in HF and provide a comprehensive and updated practical guide on their use in de novo and chronic HF, including potential scenarios that a clinician, cardiologist or others, may face in everyday clinical practice.

Mitral and Tricuspid Valve Disease in Athletes.

Observing mitral or tricuspid valve disease in an athlete raises many considerations for the clinician. Initially, the etiology must be clarified, with causes differing depending on whether the athlete is young or a master. Notably, vigorous training in competitive athletes leads to a constellation of structural and functional adaptations involving cardiac chambers and atrioventricular valve systems. In addition, a proper evaluation of the athlete with valve disease is necessary to evaluate the eligibility for competitive sports and identify those requiring more follow-up. Indeed, some valve pathologies are associated with an increased risk of severe arrhythmias and potentially sudden cardiac death. Traditional and advanced imaging modalities help clarify clinical doubts, allowing essential information about the athlete's physiology and differentiating between primary valve diseases from those secondary to training-related cardiac adaptations. Remarkably, another application of multimodality imaging is evaluating athletes with valve diseases during exercise to reproduce the sport setting and better characterize the etiology and valve defect mechanism. This review aims to analyze the possible causes of atrioventricular valve diseases in athletes, focusing primarily on imaging applications in diagnosis and risk stratification.

Simultaneous presence of Brugada and overgrowth syndromes.

In the present article, we describe the case of a 21-year-old male presenting to the emergency department following a syncopal episode. Physical examination revealed a distinctive facial appearance in the context of an overgrowth syndrome. Also, an ajmaline test was performed because of the evidence of an incomplete right bundle branch block with ST-T segment elevation in the right precordial derivations, revealing a type-1 Brugada electrocardiographic pattern. Considering the high cardiovascular risk phenotype, the patient underwent subcutaneous cardiac defibrillator implantation. The subsequent comprehensive genomic testing analysis led to the diagnosis of a variant of uncertain significance of the nuclear receptor binding SET domain protein 1 (NSD1) gene and a heterozygous mutation of the calsequestrin 2 (CASQ2) gene. NSD1 gene alterations are usually responsible for the Sotos syndrome, characterized by distinctive facial appearance, learning disability, and overgrowth, in addition to cardiac anomalies ranging from single self-limiting alterations to more severe, complex cardiac abnormalities. On the contrary, a compound heterozygous or homozygous alteration of the CASQ2 gene is usually associated with catecholaminergic polymorphic ventricular tachycardia; however, the significance of a merely heterozygous alteration in the CASQ2 gene, as in the present case report, is not yet clear. In conclusion, to the best of our knowledge, this is the first description of the coexisting presence of Brugada and overgrowth syndromes in a single patient.

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.

A State-of-the-Art Review on Sleep Apnea Syndrome and Heart Failure.

Heart failure (HF) affects many patients worldwide every year. It represents a leading cause of hospitalization and still, today, mortality remains high, albeit the progress in treatment strategies. Several factors contribute to the development and progression of HF. Among these, sleep apnea syndrome represents a common but still underestimated factor because its prevalence is substantially higher in patients with HF than in the general population and is related to a worse prognosis. This review summarizes the current knowledge about sleep apnea syndrome coexisting with HF in terms of morbidity and mortality to provide actual and future perspectives about the diagnosis, evaluation, and treatment of this association.

A sudden right-to-left shunt: the importance of evaluating patent foramen ovale during exercise.

A 55-year-old male affected by heart failure with reduced ejection fraction and a history of a transient cerebrovascular accident was accepted to the Cardiology Department for worsening dyspnea. A cardiopulmonary exercise test was performed after therapy optimization to further evaluate exercise intolerance. A rapid increase in the minute ventilation/carbon dioxide production slope, end-tidal oxygen pressure, and respiratory exchange ratio, with a concomitant decrease in end-tidal carbon dioxide pressure and oxygen saturation, were observed during the test. These findings indicate exercise-induced pulmonary hypertension leading to a right-to-left shunt. Subsequent echocardiography with a bubble test unveiled the presence of an unknown patent foramen ovale. It is, therefore, necessary to exclude a right-to-left shunt by cardiopulmonary exercise testing, particularly in patients predisposed to develop pulmonary hypertension during exercise. Indeed, this eventuality might potentially provoke severe cardiovascular embolisms. However, the patent foramen ovale closure in patients with heart failure with reduced ejection fraction is still debated because of its potential hemodynamic worsening.