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.
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.
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 O
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.
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).
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.
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.
Abstract
Corona virus disease of 2019 (COVID19) is an ongoing global pandemic caused by SARS-CoV-2 virus. COVID-19 typically involves the respiratory tract with a wide spectrum of disease severity. ...Long-Covid19 syndrome refers to a series of symptoms that sometimes persist after COVID-19 infection. We describe a case of unilateral phrenic nerve palsy in a young woman with Long-COVID-19 syndrome. a 28-year-old woman admitted for COVID-19 presented persistent exertional dyspnoea. All the examinations performed were normal. At Cardiopulmonary exercise test (CPET) however, the ventilation plot was characterized by a lack of increase of the tidal volume compensated with a premature and continuous rise in respiratory frequency. Suspecting a ventilation abnormality, an electroneurography of the diaphragmatic nerves was conducted showing a right phrenic nerve palsy. Long-COVID-19 syndrome is a growing entity in clinical practice and dyspnoea is one of the most common symptoms. In this setting, phrenic nerve palsy should be ruled out, especially in patients with unexplained dyspnoea. CPET is a complete technique that assesses both pulmonary and cardiac performance. Since it might give important clues in the recognition of the cause of persistent symptoms after COVID-19 it should be extensively performed in these patients.
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.
Vanished myxoma due to systemic embolization De Luca, Antonio; Albani, Stefano; Negri, Francesco ...
Journal of cardiovascular medicine (Hagerstown, Md.),
03/2018, Letnik:
19, Številka:
3
Journal Article
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.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK, VSZLJ
Cardiomyopathies are primary myocardial disorders, genetically determined, with clinical onset between the third and the fifth decade of life. They represent the main causes of sudden cardiac death ...and heart failure in the youth. The more common myocardial diseases in clinical practice are dilated cardiomyopathy, arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy. Next generation sequencing techniques, recently available for genetics researches, together with the diffusion of advanced imaging techniques, permitted in the last years a deeper knowledge of these pathologies. Nevertheless, diagnosis, etiology and several aspects of patients' clinical management remain complex and controversial. This review paper aims to propose some operative flow-charts, derived from scientific evidences and the internal protocol of the Cardiothoracovascular Department of Trieste Hospital, Italian referral Center for cardiomyopathies and heart failure, with more than 30 years of experience in diagnosis and management of patients who suffer from primary myocardial disorders.
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.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK, VSZLJ
The occurrence of an accessory liver is extremely rare and usually has no clinical significance. This malformation may harbor the same pathologic processes present in the anatomically normal liver. ...Cancer 1994; 73:1332–4.
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