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INTRODUCTION: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited pathology that can increase the risk of sudden death. Current Task Force Criteria for echocardiographic diagnosis do not include new, regional assessment tools which may be relevant in a phenotypically diverse disease. We adopted a systematic review and meta-analysis approach to highlight echocardiographic indices that differentiated ARVC patients and healthy controls. METHODS: Data was extracted and analysed from prospective trials that employed a case-control design meeting strict inclusion and exclusion as well as a-priori quality criteria. Structural indices included proximal RV outflow tract(RVOT1) and RV diastolic area(RVDarea). Functional indices included RV fractional area change (RVFAC), Tricuspid Annular Systolic Excursion(TAPSE), peak systolic and early diastolic myocardial velocities (S' and E' respectively) and myocardial strain. RESULTS: Patients with ARVC had larger RVOT1 (mean ï± SD; 34 vs. 28 mm P<0.001) and RVDarea (23 vs. 18 cm2 P<0.001) compared to healthy controls. ARVC patients also had lower RVFAC (38 vs. 46 % P<0.001), TAPSE(17 vs. 23 mm P<0.001), S' (9 vs. 12 cm.s-1 P<0.001), E' (9 vs. 13 cm.s-1 P<0.001) and myocardial strain (-17 vs. -30% P<0.001). CONCLUSION: The data from this meta-analysis support current Task Force criteria for the diagnosis of ARVC. In addition, other RV measures that reflect the complex geometry and function in ARVC clearly differentiated between ARVC and healthy controls and may provide additional diagnostic and management value. We recommend that future working groups consider this data when proposing new / revised criteria for the echocardiographic diagnosis of ARVC.
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Asthma now affects one child in seven in the United Kingdom. Most cases (95%) of childhood asthma are associated with atopy, the immunoglobulin E (IgE)-mediated familial syndrome of allergic asthma, eczema and rhinitis. Segregation analysis has consistently suggested the presence of major genes influencing atopy and IgE levels, with the expectation that these genes may be identified by positional cloning or the examination of candidate genes. Here we report the results of a genome-wide search for linkage to one qualitative and four quantitative traits associated with allergic (atopic) asthma. We have identified six potential linkages (P<0.001), five of which are to quantitative traits. Monte Carlo simulations show that 1.6 false-positive linkages at this level of significance would be expected from the data. One linkage, to chromosome 11q13, has been established previously. Three of the new loci show evidence of linkage to a second panel of families, in which maternal effects and pleiotropy of linked phenotypes are seen. The results demonstrate the extent and the complexity of the genetic predisposition to asthma.