Sport and exercise in genotype positive (+) phenotype negative (-) individuals: current dilemmas and future perspectives.

Genotype positive-phenotype negative (GEN+PHEN-) individuals harbour a pathogenic or likely pathogenic variant without exhibiting a phenotypic manifestation of the disease. In the last few years, the widespread use of genetic testing in probands and relatives has increasingly led to the identification of these individuals, with emerging dilemmas regarding their clinical management. A genetic variant may exhibit a variable expressivity even in the same family and spontaneous conversion to overt phenotype is largely unpredictable. Little is known about the possible influence of environmental factors, such intense or moderate exercise with open questions regarding their possible role in promoting or worsening the phenotypic expression. Current guidelines for sports participation in this setting acknowledge the weak burden of evidence and the many uncertainties. The recommendations to engage in intensive exercise and competitive sports are usually contingent on annual clinical surveillance, except for pathogenic variants in specific genes, such as lamin A/C or plakophilin-2. In certain conditions, such as arrhythmogenic cardiomyopathy, guidelines do not differentiate between GEN+PHEN- individuals and patients with overt disease and recommend avoiding participation in high-intensity recreational exercise and competitive sports. It should be emphasized that international guidelines, traditionally restrictive in terms of sports participation and focused on disqualification, embraced recently a more liberal attitude promoting a shared decision-making approach in the absence of clinical markers of increased risk. In this review, we will discuss the current state of knowledge on GEN+PHEN- individuals and the dilemmas surrounding the impact of exercise and prognosis, focusing on cardiomyopathies and channelopathies, which are the predominant causes of sudden cardiac death in the young and in young athletes.

Return to Play after SARS-CoV-2 Infection in Competitive Athletes of Distinct Sport Disciplines in Italy: A FMSI (Italian Federation of Sports Medicine) Study.

BACKGROUND: SARS-CoV-2 can lead to several systemic complications, including myocardial injuries; these might be worsened by heavy physical activity. The optimal approach to cardiac risk stratification following SARS-CoV-2 infection in athletes for a safe return to play (RTP) still needs defining. The aim of this study was to assess the prevalence of abnormal RTP test results, according to the protocol of Italian Federation of Sport Medicine (FMSI), which was endorsed by the Italian Ministry of Health, potentially representing COVID-19-associated cardiac injuries. METHODS: This was a prospective, multicenter, observational study. All consecutive competitive athletes who underwent COVID-19 RTP testing protocol from 1 May to 31 July 2021, across 60 Italian Centers of Sports Medicine, were enrolled in the study. Athletes were tested at least 30 days after negativization of the nasopharyngeal swab (or immediately after negativization in professional athletes or Probable Olympians). A 12-lead electrocardiography at rest and during maximal incremental exercise test with continuous O2 saturation monitoring and an echocardiographic examination were part of the protocol. In athletes with "moderate" disease (NHI classification), 24 h ECG monitoring (to be performed on a training day) and Magnetic Resonance Imaging (MRI) were also performed. RESULTS: A total of 4143 athletes (67.8% males and 32.2% females) (53% > 18 years, 20% 18-35 years and 16% > 35 years), from more than 40 different sport disciplines, were included in the study. The mean age was 22.5 ± 13.3 years, with ages ranging from 8 to 80 years. Of these athletes, 52.3% were asymptomatic, 46.4% manifested mild symptoms, 1.1% and 0.14% had moderate or severe symptoms, respectively, while critical illness was evident in one athlete. Abnormal echocardiographic findings were detected in 80 cases (1.9%), and pericarditis in 7 cases (0.2%); all were from mildly symptomatic athletes. Arrhythmic events were recorded in 239 athletes, with 224 (5.4%) in the exercise test and 15 (0.4%) during 24 h ECG monitoring. Ventricular arrhythmias were observed in 101 (2.4%) athletes from the total population (mostly isolated or couples of premature ventricular beats): 91 in the exercise test and 10 during 24 h ECG monitoring. Cardiac magnetic resonance was performed in 34 athletes; the presence of myocarditis was confirmed in 5 athletes (0.12% of the total population, 14.7% of athletes in which MRI was performed). CONCLUSIONS: According to our results, cardiac complications from SARS-CoV-2 in asymptomatic or mildly symptomatic competitive athletes are rare, and an RTP assessment based on symptoms and ECG-monitored exercise test would ensure a safe RTP in these athletes.

Cardio-pulmonary function among children with mild or asymptomatic COVID-19 infection needing certification for return-to-play.

AIM: To explore the cardio-pulmonary function of children returning to play sports after mild or asymptomatic SARS-CoV-2 infection. METHODS: This is a consecutive case series conducted at the Institute for Maternal and Child Health, Trieste, Italy. Paediatric patients who accessed the Institute for cardiologic and pneumological evaluation before the return-to-play competitive sports were recruited, according to the Italian Sports Medical Federation recommendations. Echocardiogram, electrocardiogram, treadmill ECG test and pulmonary function tests were performed. RESULTS: One hundred and thirty-two patients (aged 8-17 years old, mean age 12.8 ± 2.5) were recruited. Among these, 127 children were considered for the final analysis (49.6% females). Out of 127, 84 (66.1%) had a mild symptomatic form of SARS-CoV-2 infection, while 43 (33.9%) were asymptomatic. The main referred symptoms were fever (n = 37, 44%), asthenia (n = 14, 16.7%), rhinitis (n = 16, 19%), ageusia (n = 19, 22.6%), anosmia (n = 24, 28.6%), sore throat (n = 3, 3.6%), cough (n = 9, 10.7%), arthralgia-myalgia (n = 11, 13.1%), headache (n = 23, 27.4%) and gastrointestinal symptoms (n = 7, 8.3%). No child presented evidence of cardio-pulmonary function impairment after an average time of 77.3 days (SD 35) from SARS-CoV-2 swab positivity and a median of 68 days (IQ1 52, IQ3 92.5). CONCLUSION: This preliminary study suggests that, in the absence of specific symptoms, the diagnostic yield of cardio-pulmonary tests before returning to play sports may be very low.

Double versus single source left-sided coronary revascularization using bilateral internal thoracic artery graft alone.

Left-sided coronary revascularization with bilateral internal thoracic artery (BITA) graft is performed usually either with an in situ (double source) or Y-graft configuration (single source). Two hundred fifty-three (mean age, 67.1 ± 9.5 years) patients underwent isolated left-sided coronary revascularization with BITA graft alone at the present authors' institution (2000-2015). Skeletonized BITA grafts were used either in an in situ (n = 199) or Y-graft configuration (n = 54). Forty pairs were identified with the propensity score-matching. Outcomes of the two groups were compared both in unmatched and matched series. Cardiopulmonary exercise testing was performed in five pairs of selected, asymptomatic matched patients having patent BITA grafts at coronary computed tomography angiography. BITA in situ patients had lower risk profiles than BITA Y-graft patients (median EuroSCORE II, 1.9 vs. 2.9%, p = 0.051). In-hospital mortality (5.6 vs. 0, p = 0.0093) and the rates of postoperative complications except deep sternal wound infection were higher in BITA Y-graft patients. However, these differences were not confirmed in matched groups. During the follow-up period (mean, 5.9 ± 4.3 years), between BITA in situ and BITA Y-graft matched patients, there were no differences in non-parametric estimates of freedom from cardiac death (p = 0.6), major adverse cardiac and cerebrovascular events (MACCEs, p = 0.65), and repeat coronary revascularization (p = 0.44). Adjusted risk estimates of MACCEs according to BITA configuration confirmed no superiority of the one configuration over the other (p ≥ 0.44). No significant differences were found at the cardiopulmonary exercise testing. Results of left-sided coronary revascularization with BITA graft alone are independent from BITA configuration, even after stress testing.

Left ventricular thrombectomy in myocarditis: the epicardial scan & video-assisted transaortic approach.

In a 23-year-old man having myocarditis in the context of eosinophilic granulomatosis with polyangiitis, a mobile left ventricular apical thrombus was found with transthoracic echocardiography. Its surgical removal was established because there were no signs of resizing after effective intravascular anticoagulation therapy. Surgery was carried out via a median sternotomy with cardiopulmonary bypass. The site of endocardial implantation of the thrombus was identified with epicardial ultrasonography scan. The trans-aortic approach was adopted to avoid complications such as ventricular dysfunction and arrhythmias secondary to ventricular incision. Real-time imaging of the complete removal was obtained with optical instruments.