Impact of molecular diagnostics in an asymptomatic amateur athlete found to be affected by hypertrophic cardiomyopathy

The prevention of sudden cardiac death in asymptomatic athletes, unknowingly suffering from cardiac disease, is an important objective that involves many areas of the medical profession and of the healthcare systems in general. Here we report the case of an asymptomatic amateur athlete, who, in the setting of pre-participation screening to obtain clearance to take part in competitive sporting event, underwent cardiac clinical and instrumental examinations to ensure the absence of cardiomyopathy. Electrocardiography revealed mild repolarization abnormalities and echocardiography showed borderline septal wall thickness. Anamnestic and instrumental data suggested an underlying genetic alteration. Molecular analysis revealed double heterozygosity for mutations in the TNNT2 (c.832C>T; p.R278C) and MYBPC3 (c.2689_2690ins19nt; p.G897AfsX159) genes. Molecular analysis led to an accurate characterization of the cardiac alteration present in this athlete. This case report highlights that molecular analysis can reveal DNA alterations in asymptomatic athletes, which in many cases could cause sudden cardiac death. This and previous cases show that Clinical Molecular Biology is now an essential addition to the clinical and instrumental approach to the evaluation of cardiac wellness, which could otherwise remain obscure

Cardiovascular risk profile in Olympic athletes: An unexpected and underestimated risk scenario

Background: Prevalence of cardiovascular (CV) risk factors has been poorly explored in subjects regularly engaged in high-intensity exercise programmes. Our aim was, therefore, to assess the prevalence and distribution of CV risk factors in a large population of competitive athletes, to derive the characteristics of athlete's lifestyle associated with the best CV profile. Methods: 1058 Olympic athletes (656 males, 402 females), consecutively evaluated in the period 2014-2016, represent the study population. Prevalence and distribution of CV risk factors was assessed, in relation to age, body size and sport. Findings: Dyslipidemia was the most common risk (32%), followed by increased waist circumference (25%), positive family history (18%), smoking habit (8%), hypertension (3.8%) and hyperglycaemia (0.3%). Large subset of athletes (418, 40%) had none or 1 (414, 39%) risk factor, while only a few (39, 3.7%) had 3/4 CV risk factors. The group without risks largely comprised endurance athletes (34%). Ageing was associated with higher total and low-density lipoprotein cholesterol, triglycerides (p<0.001) and glycaemia (p=0.002) and lower high-density lipoprotein cholesterol. On multivariate logistic regression analysis, age, BMI and body fat were identified as independent predictors of increased CV risk. Interpretation: Dyslipidemia and increased waist circumference are common in elite athletes (32% and 25%, respectively). A large proportion (40%) of athletes, mostly endurance, are totally free from risk factors. Only a minority (3%) presents a high CV risk, largely expression of lifestyle and related to modifiable CV risk factors

Prevalence and Management of Systemic Hypertension in Athletes

The aim of the present study was to evaluate the prevalence, determinants, and clinical management of systemic hypertension in a large cohort of competitive athletes: 2,040 consecutive athletes (aged 25 ± 6 years, 64% men) underwent clinical evaluation including blood test, electrocardiogram, exercise test, echocardiography, and ophthalmic evaluation. Sixty-five athletes (3%) were identified with hypertension (men = 57; 87%) including 5 with a secondary cause (thyroid dysfunction in 3, renal artery stenosis in 1, and drug induced in 1). The hypertensive athletes had greater left ventricular hypertrophy and showed more often a concentric pattern than normotensive ones. Moreover, they showed a mildly reduced physical performance and were characterized by a higher cardiovascular risk profile compared with normotensive athletes. Multivariate logistic regression analysis showed that family hypertension history (odds ratio 2.05; 95% confidence interval 1.21 to 3.49; p = 0.008) and body mass index (odds ratio 1.32; 95% confidence interval 1.23 to 1.40; p <0.001) were the strongest predictors of hypertension. Therapeutic intervention included successful lifestyle modification in 57 and required additional pharmacologic treatment in 3 with essential hypertension. Secondary hypertension was treated according to the underlying disorder. After a mean follow-up of 18 ± 6 months, all hypertensive athletes had achieved and maintained optimal control of the blood pressure, without restriction to sport participation. In conclusion, the prevalence of hypertension in athletes is low (3%) and largely related to family history and overweight. In the vast majority of hypertensives, lifestyle modifications were sufficient to achieve an optimal control of blood pressure values

Does sport participation worsen the clinical course of hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a heterogeneous disease with respect to its clinical expression and natural history, with sudden cardiac death (SCD) representing the most devastating complication in young people, including athletes. At present, guidelines recommend precautionary disqualification from competitive sports in individuals with HCM, regardless of the absence of major risks for SCD. However, the impact of sport participation on the clinical outcome of HCM has been poorly investigated. To address this question, we assessed the clinical course of a selected cohort of patients with HCM, in relation with their continued or dismissed participation in exercise training and sport competition. This study shows that over a period of 9-year follow-up, even low-risk athletes with HCM may incur symptoms (2.2% per year) and cardiac arrest (0.3% per year) but suggests that the incidence of event/symptoms is largely independent from continuation or interruption of regular exercise and sport programs

High blood pressure response to exercise predicts future development of hypertension in young athletes

Aims Due to superior exercise performance, athletes show higher blood pressure (BP) at peak exercise compared to untrained individuals. Thus, higher reference values for peak exercise systolic and diastolic BP were reported specifically for athletes. However, the prognostic significance of high blood pressure response (HBPR) to exercise has not yet been clarified in this population. Methods and results One hundred and forty-one normotensive athletes with HBPR to exercise were compared to 141 normotensive athletes with normal blood pressure response (NBPR) to exercise, matched for gender, age, body size, and type of sport. All athletes were followed up for 6.5 ± 2.8 years. Over follow-up, no cardiac events occurred; 24 athletes were diagnosed essential hypertension (8.5%). Specifically, 19 (13.5%) belonged to the HBPR compared with 5 (3.5%) in the NBPR group (P = 0.003). Kaplan-Meier analysis confirmed that the incidence of hypertension during follow-up was higher in the HBPR group (log-rank χ2P-value = 0.009). Multivariable analysis by Cox proportional hazard survival model showed that resting BP and HBPR at baseline evaluation were the strongest predictors of incident hypertension (χ2 for the model 30.099; P < 0.001). Specifically, HBPR was associated with a hazard ratio of 3.6 (95% confidence interval 1.3-9.9) of developing hypertension. Over follow-up exercise capacity, as well as morphologic and functional cardiac parameters in athletes from both groups did not change significantly. Conclusion The present study showed that an exaggerated BP response to exercise increased the risk for incident hypertension in highly trained and normotensive athletes over a middle-term period

Neither athletic training nor detraining affects LV hypertrophy in adult, low-risk patients with HCM

To address this issue, we investigated long-term structural and functional cardiac changes in patients with HCM in relation to their interruption or persistence in exercise training and competitive sports participation

Pre-participation health evaluation in adolescent athletes competing at youth olympic games. proposal for a tailored protocol

Objective To promote sports participation in young people, the International Olympic Committee (IOC) ìintroduced the Youth Olympic Games (YOG) in 2007. In 2009, the IOC Consensus Statement was published, which highlighted the value of periodic health evaluation in elite athletes. The objective of this study was to assess the efficacy of a comprehensive protocol for illness and injury detection, tailored for adolescent athletes participating in Summer or Winter YOG. Methods Between 2010 and 2014, a total of 247 unique adolescent elite Italian athletes (53% females), mean age 16±1,0 years, competing in 22 summer or 15 winter sport disciplines, were evaluated through a tailored pre-participation health evaluation protocol, at the Sports Medicine and Science Institute of the Italian Olympic Committee. Results In 30 of the 247 athletes (12%), the preparticipation evaluation led to the final diagnosis of pathological conditions warranting treatment and/ or surveillance, including cardiovascular in 11 (4.5%), pulmonary in 11 (4.5%), endocrine in five (2.0%), infectious, neurological and psychiatric disorders in one each (0.4%). Based on National and InternationaGuidelines and Recommendations, none of the athleteswas considered at high risk for acute events and all were judged eligible to compete at the YOG. Athletes with abnormal conditions were required to undergo a periodicfollow-up. Conclusions The Youth Pre-Participation Health Evaluation proved to be effective in identifying a wide range of disorders, allowing prompt treatment, appropriate surveillance and avoidance of potential longterm consequences, in a significant proportion (12%) of adolescent Italian Olympic athletes