Inherited cardiomyopathies and sports participation.

Competitive sports activity is associated with an increased risk of sudden cardiovascular death in adolescents and young adults with inherited cardiomyopathies. Many young subjects aspire to continue competitive sport after a diagnosis of cardiomyopathy and the clinician is frequently confronted with the problem of eligibility and the request of designing specific exercise programs. Since inherited cardiomyopathies are the leading cause of sudden cardiovascular death during sports performance, a conservative approach implying disqualification of affected athletes from most competitive athletic disciplines is recommended by all the available international guidelines. On the other hand, we know that the health benefits of practicing recreational sports activity can overcome the potential arrhythmic risk in these patients, provided that the type and level of exercise are tailored on the basis of the specific risk profile of the underlying cardiomyopathy. This article will review the available evidence on the sports-related risk of sudden cardiac death and the recommendations regarding eligibility of individuals affected by inherited cardiomyopathies for sports activities.

Out of hospital cardiac arrest survivors with inconclusive coronary angiogram: Impact of cardiovascular magnetic resonance on clinical management and decision-making.

BACKGROUND: Non-traumatic out of hospital cardiac arrest (OHCA) is the leading cause of death worldwide, mainly due to acute coronary syndromes. Urgent coronary angiography with view to revascularisation is recommended in patients with suspected acute coronary syndrome. Diagnosis and management of patients with inconclusive coronary angiogram (unobstructed coronaries or unidentified culprit lesion) is challenging. We sought to assess the role of Cardiovascular Magnetic Resonance (CMR) in the diagnosis and management of OHCA survivors with an inconclusive coronary angiogram. METHODS AND RESULTS: This is a retrospective multicentre CMR registry analysis of OHCA survivors with an inconclusive angiogram. Clinical, ECG and multi-modality imaging data were analysed. Clinical impact of CMR was defined as a change in diagnosis or management. Out of 174 OHCA survivors referred for CMR, 110 patients (63%, 84 male, median age 58) had an inconclusive angiogram. CMR identified a pathologic substrate in 76/110 patients (69%): ischemic heart disease was found in 45 (41%) and non-ischemic heart disease in 31 (28%). A structurally normal heart was found in 25 patients (23%) and non-specific findings in 9 (8%). As compared to trans-thoracic echocardiogram, CMR proved to be superior in identifying a pathologic substrate (69% vs 54%, p=0.018). The CMR study carried a clinical impact in 70% of patients, determining a change in diagnosis in 25%, in management in 29% and a change in both in 16%. CONCLUSIONS: CMR showed a promising role in the diagnostic work-up of OHCA survivors with inconclusive angiogram and its wider use should be considered.

The prevalence and clinical significance of premature ventricular beats in the athlete.

Adolescents and adults with cardiovascular disease who are engaged in sports activity have an increased risk of sudden cardiac death (SCD) that is three times greater than that of their non-athletic counterparts. Sport acts as a trigger for cardiac arrest in the presence of underlying cardiovascular diseases predisposing to life-threatening ventricular arrhythmias. Frequent and complex premature ventricular beats (PVBs) detected during the cardiovascular screening of the athletic population may be a sign of an underlying cardiovascular disease at risk of SCD, but are also often recorded in trained athletes without cardiovascular abnormalities. Thus, the interpretation of PVBs could represent a clinical dilemma, particularly in the athlete. However, while some characteristics of PVBs can be considered common and benign, others occur uncommonly in the athletic population and raise the suspicion of an underlying cardiovascular disease. This review discusses the prevalence and clinical significance of PVBs in the athlete, with a focus on exercise-induced PVBs, on the analysis of PVB's morphology at 12-lead ECG, and on the morphological substrates identified by imaging techniques. The implications on eligibility for competitive sports participation are also discussed, according to the relevance of PVB detection for disqualifying athletes from competitions.

A simple intervention to improve antibiotic treatment times for neutropenic sepsis.

OBJECTIVES: Patients with suspected Neutropenic sepsis require rapid antibiotic administration, but despite extensive education, only 67% of patients received antibiotics within 60 minutes . METHODS: A Neutropenic Sepsis Alert Card was created, as a Patient Specific Directive - this allows nurses to administer antibiotics to specific patients without prior medical review. RESULTS: Since the intervention, 301 patients presented with suspected neutropenic sepsis. 277 patients (92%) received their first dose of intravenous antibiotics within 1 hour of arrival into hospital, compared to 95 out of 143 patients (67%) presenting between January and June of 2014 (p=0.036). CONCLUSION: The Neutropenic Sepsis Alert Card can significantly improve door to antibiotic needle time for chemotherapy patients with suspected neutropenic sepsis. This intervention is inexpensive and easily replicable in other health care organisations.

Confirmation of correct central venous catheter position in the preoperative setting by echocardiographic "bubble-test".

BACKGROUND: Verification of the central venous catheters (CVCs) position by chest X-ray (CXR) is usually performed in the postoperative period with the risk related to possible malposition. This prospective observational study aimed to assess the diagnostic accuracy and reproducibility of ultrasound (US) and "bubble test" to detect malpositions of CVC in the preoperative setting. METHODS: The study included 105 patients undergoing preoperative CVC placement. A US protocol aimed at direct visualization of the CVC was completed by a single operator and two consecutive "bubble tests" were performed independently by different physicians. Two parameters were considered: complete right atrium (RA) opacization versus visualization of "no or few bubbles" and time from agitated saline injection to visualization of micro-bubbles in the RA ("push-to-bubbles" time). RESULTS: CXR identified 14 (13%) CVC malpositions. Vascular US showed a sensitivity of 64% and a specificity of 100% while visualization of "no or few bubbles" at bubble test yielded a sensitivity of 50% and a specificity of 100%. "Push-to-bubbles" times were ≈9 times longer in patients with compared to those without CVC malposition (1400 [702-2160] ms versus 167 [123-228] ms, P<0.001). A cut off value of 500 ms had a sensitivity of 100% and a specificity of 99% for CVC malposition with an inter-observer agreement of 99% (kappa 0.96, P<0.001). CONCLUSION: CVC malposition was observed in a sizeable proportion of patients undergoing preoperative central venous cannulation. Measurement of "push-to-bubbles" time is a fast, accurate and highly reproducible tool for verifying the correct CVC position.

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.

Conotruncal defects (CTDs) represent 15-20% of all congenital heart defects. Mutations in a number of genes have been associated with CTD in humans and animal models. We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double outlet right ventricle (DORV, 13 patients), and truncus arteriosus (11 patients). Denaturing high-performance liquid chromatography (DHPLC) analysis followed by bidirectional sequencing disclosed no putative pathogenic mutation in GATA4, ISLET1, and GDF1 genes. Two novel (Ile227Val, Met544Ile) and one previously reported (Glu30Gly) possibly pathogenic missense variants were identified in the ZFPM2/FOG2 gene in 3 sporadic patients of 202 (1.5%) with CTD, including 1 of 178 (0.6%) with TOF and 2 of 13 (15.4%) with DORV. Mutation analysis also detected one known missense change (Arg25Cys) in NKX2.5 gene in two (1.1%) sporadic patients with TOF. These sequence alterations were found to be absent in 500 population-matched controls. In conclusion, the present results (i) indicate and confirm that mutations in the GATA4, GDF1, and ISLET1 genes are not major determinants in the pathogenesis of TOF, (ii) provide supportive evidence of an association between ZFPM2/FOG2 gene and TOF/DORV, and (iii) provide additional examples of the possible contribution of the Arg25Cys change in the NKX2.5 to a small number of TOF cases.

Severe Ebstein's anomaly can benefit from a small ventricular septal defect: two cases.

Ebstein's anomaly is a rare congenital heart defect. Associated lesions are uncommon, and the mortality rates can be as high as 54% during the first month of life. Two cases of severe Ebstein's anomaly with ventricular septal defect are described. It is speculated that this rare association, allowing adequate forward pulmonary blood flow in the neonate, permitted the reported patients to survive the neonatal period, which is the most life-threatening time. The authors propose that the presence of a small ventricular septal defect can be beneficial for such patients, averting the need for surgery during early infancy when the risk is highest.

A napkin-associated outbreak of Burkholderia cenocepacia bacteraemia in haemodialysis patients.

This article reports a catheter-related outbreak of bacteraemia involving 38 patients in two haemodialysis units in Verona. Burkholderia cepacia complex strains were isolated from human blood and from an individually wrapped disinfection napkin that was contained in a commercially available, sterile dressing kit used to handle central venous catheters. Micro-organisms isolated from blood cultures and from the napkin were identified by standard procedures and confirmed as B. cenocepacia (genomovar III) by molecular analysis. Using pulsed-field gel electrophoresis analysis, the clinical isolates were indistinguishable or closely related to the B. cenocepacia isolated from the napkin. In conclusion, this study found that a contaminated commercial napkin soaked in quaternary ammonium, even when quality certified, was the source of infection.

Hyperacute unilateral gonococcal endophthalmitis in an HIV-infected man without genital infection.

PURPOSE: To demonstrate the necessity of obtaining an accurate history from patients presenting abnormal evolution of ophthalmologic diseases. METHODS: A 42-year-old patient, denying any previous ocular or systemic morbidity, presented with an unusual severe and hyperacute gonococcal endophthalmitis with corneal abscess but no concurrent genitourinary infection. Only after a further interview did the patient reveal his human immunodeficiency virus status and a previous diagnosis of acquired immunodeficiency syndrome. RESULTS: Adequate topical and intravenous antibiotic treatment and surgery led to salvage of the eye. CONCLUSIONS: An accurate history should be obtained by patients with an abnormal course of an ophthalmologic disease, focusing on immunologic deficiencies that can cause extremely serious ophthalmologic complications with ensuing risk of visual impairment or ocular loss (bulbar enucleation).

Combined research and clinical learning make Rural Summer Studentship Program a successful model.

CONTEXT: Many medical schools would like to provide students with opportunities to learn and perform practical research and to have positive rural learning experiences. Rural physicians often have research ideas, but may lack the skills or assistance to perform the research. PROGRAM DESCRIPTION: The unique Rural Summer Studentship Program (RSSP) at The University of Western Ontario (Western) places students with preceptors in small and mid-sized communities throughout Southwestern Ontario where they have an opportunity to perform rural health research, combined with clinical learning, for 8 weeks in the summer after the first or second year of medical school. Secretarial coordination, research assistant support and senior faculty supervision were provided. OUTCOMES: From 1999-2003 inclusive, 44 students have participated including eight who participated over two summers. Projects were carried out in more than 20 communities with over 30 preceptors. Already, two students have had their research published in peer-reviewed journals and six have presented at major conferences. Participating students indicated an increase in interest in rural and regional medicine and in their knowledge of rural and regional medicine and patient care. They rated the value of RSSP highly as part of their medical education, even compared with other electives/selectives. CONCLUSION: The RSSP model developed at Western provides a highly rated, successful combination of supported medical student research and clinical learning with preceptors in small and mid-sized communities.

Frequency of Mycoplasma hominis and Ureaplasma urealyticum infections in women with systemic lupus erythematosus.

Ureaplasma urealyticum (UU) and Mycoplasma hominis (MH) have been detected in the urine of women with systemic lupus erythematosus (SLE). We evaluated the presence of these mycoplasma in the endocervix of women presenting SLE. A total of 40 SLE patients (mean age 40.2 years), and 51 healthy women (mean age 30.9 years), were studied. Endocervical swabs were cultured in specific liquid media for MH or UU, detected by a quantitative color assay, and considered positive at >10(3) dilutions. Statistical analysis was performed using the two-tailed Fisher test. UU was detected in 52.5 % of patients and in 11.8% of controls (p= 0.000059). MH was detected in 20% of patients and 2% controls (p=0.003905). Both mycoplasmas were detected in 7.3% patients and 0% controls (p<0.000001). The results reported here corroborate the association of the mycoplasma infection and SLE. Thus, these agents may stimulate the production of autoreactive clones.

Frequency of Mycoplasma hominis and Ureaplasma urealyticum infections in women with systemic lupus erythematosus

Ureaplasma urealyticum (UU) and Mycoplasma hominis (MH) have been detected in the urine of women with systemic lupus erythematosus (SLE). We evaluated the presence of these mycoplasma in the endocervix of women presenting SLE. A total of 40 SLE patients (mean age 40.2 years), and 51 healthy women (mean age 30.9 years), were studied. Endocervical swabs were cultured in specific liquid media for MH or UU, detected by a quantitative color assay, and considered positive at >10(3) dilutions. Statistical analysis was performed using the two-tailed Fisher test. UU was detected in 52.5 % of patients and in 11.8% of controls (p= 0.000059). MH was detected in 20% of patients and 2% controls (p=0.003905). Both mycoplasmas were detected in 7.3% patients and 0% controls (p<0.000001). The results reported here corroborate the association of the mycoplasma infection and SLE. Thus, these agents may stimulate the production of autoreactive clones.

Ureaplasma urealyticum (UU) e Mycoplasma hominis (MH) têm sido detectados em urina de mulheres com lupus eritematoso sistêmico (LES). Avaliamos a presença destes mycoplasmas no endocervix de mulheres apresentando LES. Um total de 40 pacientes com LES (idade média de 40,2 anos), e 51 mulheres sadias (idade média de 30.9 anos), foram estudadas. Swabs do endocervix foram cultivados em meio líquido específico para MH e UU, detectados por teste colorimétrico quantitativo, considerando positivo diluições > 103 . Análise estatística foi feita usando teste de Fisher. UU foi detectado em 52,5% das pacientes e em 11,8% dos controles (p= 0.000059). MH foi detectado em 20% das pacientes e 2% dos controles (p=0.003905). Ambos mycoplasmas foram detectados em 7,3 % das pacientes e 0% dos controles (p<0.000001). Os resultados aqui reportados corroboram com a associação de infecção por mycoplasma e LES. Estes agentes podem estimular a produção de clones autoreativos.

Postinfarctional remodeling: increased dye intensity in the myocardial risk area after angioplasty of infarct-related coronary artery is associated with reduction of ventricular volumes.

OBJECTIVES: We sought to evaluate if angiographic dye videointensity of the risk area during percutaneous transluminal coronary angioplasty (PTCA) of the infarct-related artery (IRA) relates to remodeling. BACKGROUND: Poor reflow after myocardial infarction (MI) predicts worse ventricular remodeling. METHODS: Fifty-three patients with a first anterior MI and isolated disease of the left anterior descending (LAD), who underwent "primary" (n = 14), "rescue" (n = 7) or "late" (after 10 +/- 4 days, n = 32) PTCA, were retrospectively selected. In 10 patients prospectively collected, we assessed Doppler flow velocities and Doppler flow reserve (DFR), relating them to the videointensity technique. Coronary stenosis and TIMI flow were determined, and echocardiographic volumes (end-diastolic and end-systolic volume indexes) and regional asynergy were computed before hospital discharge (baseline) and at six months. Assuming higher peak videointensity reflects greater myocardial blood volume, a 1- to 5-point (poor-optimal) perfusion scale was devised. RESULTS: The correlation of Doppler peak velocity and DFR with videointensity was significant (r = 0.58, p = 0.007 and r = 0.71, p < 0.001, respectively). Patients were subdivided into group A (increased videointensity post-PTCA > or = 1.5 points, n = 29) and group B (unchanged videointensity, n = 24). Analysis of variance showed a time-group interaction for end-diastolic volume index (-4.6 +/- 23% vs. +22 +/- 22%, p = 0.003) and end-systolic volume index (-3.05 +/- 11.1% vs. +4.1 +/- 12.5%, p = 0.027). There was no interaction for changes in LAD stenosis (p = 0.39) and TIMI flow after PTCA (p = 0.27), or regional asynergy at six months (p = 0.31). CONCLUSIONS: Angiographic dye videointensity in the risk area correlates with Doppler peak velocity and DFR, and its increase after PTCA of IRA has a limiting effect on ventricular volumes, independent of coronary stenosis resolution, changes in Thrombolysis In Myocardial Infarction (TIMI) flow or extent of regional asynergy.

Coronary artery dimensions may be misclassified as normal in Kawasaki disease.

BACKGROUND: Current American Heart Association guidelines indicate that patients with Kawasaki disease and no coronary artery abnormalities on echocardiography at any stage of illness may be discharged from cardiologic follow-up 1 year after onset of illness. METHODS AND RESULTS: To determine whether coronary artery dimensions in patients with Kawasaki disease whose vessels are classified as "normal" by Japanese Ministry of Health criteria have a distribution similar to expected population norms when adjusting for body surface area, we studied 125 patients during 4 intervals from onset of illness: (1) 10 days or less, (2) 2 weeks (11 to 21 days), (3) 6 weeks (22 days to 3 months), and (4) 1 year (4 months to 1.5 years). Using two-dimensional echocardiography, we measured the internal lumen diameter of the left main, proximal left anterior descending, and proximal right coronary arteries. Mean body surface area-adjusted dimensions of the proximal left anterior descending and right coronary arteries were significantly larger (P < .01) in patients with Kawasaki disease than those in subjects in all periods, except for a marginal difference at 6 weeks for the proximal right coronary artery (P = .02); for the left main coronary artery, this difference achieved statistical significance in the period of 10 days or less, with a trend at 2 weeks (P = .02). Among patients classified as having normal coronary arteries on all echocardiograms by the Japanese Ministry of Health criteria, 27% had at least 1 body surface area-adjusted coronary dimension more than 2 standard deviations above the expected mean. CONCLUSIONS: Coronary artery dilation in Kawasaki disease is thus more prevalent than previously reported, highlighting the need for systematic long-term surveillance of this population.

Partial atrioventricular canal with congestive heart failure in the first year of life: surgical options.

BACKGROUND: An important subgroup of patients with partial atrioventricular canal require an operation in the first year of life because of refractory congestive heart failure. METHODS: From June 1982 to April 1995, of 128 patients with partial atrioventricular canal, 35 patients (27%) underwent surgical treatment at less than 1 year of life. Associated cardiac anomalies were present in 22 patients. Only 7 patients (20%) had Down's syndrome. Five patients with left ventricular hypoplasia underwent aortic coarctectomy (3 patients) or Norwood operation (2 patients). The other 30 patients underwent anatomic repair in 24 cases and aortic coarctectomy in 6. The surgical results of patients submitted for anatomic repair were retrospectively correlated with the echocardiographic mitral valve diameter. RESULTS: There were 7 deaths (29%) after anatomic repair, 2 (22%) after aortic coarctectomy, and 2 (100%) after Norwood operation. Infants with a mitral valve diameter less than 2.5 x 10-2 m/m2 died at repair. In a mean follow-up of 73.5 months there were five secondary mitral valve plasties and three repairs after aortic coarctectomy. CONCLUSIONS: Among patients with partial atrioventricular canal, there is an important subgroup with clinical signs of heart failure in the first year of life. Left-sided obstructive lesions and complex mitral valve anomalies seem to play a fundamental role in the clinical evolution and prognosis of these patients. The echocardiographic mitral valve diameter may be useful for determining the correct surgical indication.

[Pulmonary valvuloplasty in childhood: the immediate results and long-term follow-up]. / Valvuloplastica polmonare in età pediatrica: risultati immediati e follow-up a lungo termine.

BACKGROUND: Pulmonary balloon valvuloplasty is the treatment of choice of pulmonary valve stenosis, but early results and long-term follow-up in a numerous and homogeneous pediatric population are poorly known. MATERIAL AND METHODS: From April 1984 to April 1994, 202 valvuloplastic procedures were performed in 197 patients (age 52.5 +/- 150 months). Hemodynamic data were analysed according with valvular morphology and patient's age at procedure. During a follow-up period of 50 +/- 38 months, clinical and instrumental data were collected. RESULTS: After pulmonary valvuloplasty RV pressure decreased from 86 +/- 28 to 41 +/- 21 mm Hg (p < 0.001), transvalvular pressure gradient from 67 +/- 27 to 24 +/- 14 mm Hg (p < 0.001) and RV/LV pressure ratio from 1.01 +/- 0.29 to 0.53 +/- 0.19 (p < 0.001). Overall success rate was 95% (187/197 patients). Pulmonary valve dysplasia and/or annulus hypoplasia significantly influenced the efficacy of the procedure and/or the recurrence of valvar stenosis (18.8% vs 2.7%, p < 0.01). During the follow-up period, clinical examination was unremarkable, and transvalvular pressure gradient did not change (23 +/- 9 vs 24 +/- 6 mm Hg at discharge, p = NS). Freedom from restenosis was 98% at 3 years and 96% at 5 and 10 years. CONCLUSIONS: Pulmonary balloon valvuloplasty is a safe, effective and possibly definitive treatment for isolated pulmonary valve stenosis in infants and children. Age at valvuloplasty does not influence the success of the procedure, as opposed to valvular dysplasia and/or annulus hypoplasia that positively relate to the need of surgical valvotomy and/or the recurrence of stenosis during a long-term follow-up. In conclusion, prognosis of the majority of infants and children after a successful valvuloplasty is excellent during a long-term follow-up period.