Showing posts with label RSSMix.com Mix ID 8259526. Show all posts
Showing posts with label RSSMix.com Mix ID 8259526. Show all posts
Tuesday, October 31, 2017
Genotype-phenotype correlations in Marfan syndrome
Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder associated with abnormalities of the cardiovascular, ocular and musculoskeletal systems. Aortopathy, manifest as thoracic aortic aneurysm (TAA) and dissection, is the major cause of morbidity and mortality. Most individuals with MFS carry mutations in the gene FBN1. This gene encodes the extracellular matrix (ECM) protein fibrillin-1, which plays essential roles in the formation of microfibrils, organisation of ECM components and sequestration of growth factors such as transforming growth factor beta (TGFβ). Thus, mutations in FBN1 lead to deleterious biomechanical effects and aberrant signalling pathway activation within the aorta and other affected tissues.
Though autosomal dominant, MFS has wide phenotypic variability. For example, the age of onset, severity and rate of progression of TAA is currently unpredictable. These gaps in knowledge pose important limitations in clinical decision making with respect to timing of elective surgery, frequency of imaging follow-up, physical activity...
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Management of Kawasaki disease in adults
Kawasaki disease is the most common childhood vasculitis in the USA and the most common cause of acquired cardiac disease in children in developed countries. Since the vast majority of Kawasaki disease initially presents at <5 years of age, many adult cardiologists are unfamiliar with the pathophysiology of this disease. This vasculitis has a predilection for coronary arteries with a high complication rate across the lifespan for those with medium to large coronary artery aneurysms. An inflammatory cascade produces endothelial dysfunction and damage to the vascular wall, leading to aneurysmal dilatation. Later, pseudonormalisation of the vascular lumen occurs through vascular remodelling and layering thrombus, but this does not necessarily indicate resolution of disease or reduction of risk for future complications. There is a growing prevalence of Kawasaki disease, making it increasingly relevant for adult cardiologists as this population transitions into adulthood. As the 2017 American Heart Association (AHA) and 2014 Japanese Circulation Society (JCS) guidelines emphasise, Kawasaki disease requires rigorous follow-up with cardiac stress testing and non-invasive imaging to detect progressive stenosis, thrombosis and luminal occlusion that may lead to myocardial ischaemia and infarction. Due to differences in disease mechanisms, coronary disease due to Kawasaki disease should be managed with different pharmacological and non-pharmacological treatment algorithms than atherosclerotic coronary disease. This review addresses gaps in the current knowledge of the disease and its optimal treatment, differences in the AHA and JCS guidelines, targets for future research and obstacles to transition of care from adolescence into adulthood.
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A current approach to heart failure in Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a genetic, progressive neuromuscular condition that is marked by the long-term muscle deterioration with significant implications of pulmonary and cardiac dysfunction. As such, end-stage heart failure (HF) in DMD is increasingly becoming the main cause of death in this population. The early detection of cardiomyopathy is often challenging, due to a long subclinical phase of ventricular dysfunction and difficulties in assessment of cardiovascular symptomatology in these patients who usually loose ambulation during the early adolescence. However, an early diagnosis of cardiovascular disease in patients with DMD is decisive since it allows a timely initiation of cardioprotective therapies that can mitigate HF symptoms and delay detrimental heart muscle remodelling. Echocardiography and ECG are standardly used for screening and detection of cardiovascular abnormalities in these patients, although these tools are not always adequate to detect an early, clinically asymptomatic phases of disease progression. In this regard, cardiovascular magnetic resonance (CMR) with late gadolinium enhancement is emerging as a promising method for the detection of early cardiac involvement in patients with DMD. The early detection of cardiac dysfunction allows the therapeutic institution of various classes of drugs such as corticosteroids, beta-blockers, ACE inhibitors, antimineralocorticoid diuretics and novel pharmacological and surgical solutions in the multimodal and multidisciplinary care for this group of patients. This review will focus on these challenges and available options for HF in patients with DMD.
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