Objective: The purpose of this review is to ascertain whether patients with Brugada syndrome (BrS) having SCN5A mutations have a more severe clinical phenotype and prognosis than do patients without SCN5A mutations. Methods: A comprehensive Scopus database search was conducted; studies were selected by using Brugada syndrome and SCN5A as keywords for the main query. Results: The available literature consistently shows greater electrophysiological abnormalities in patients with Brugada syndrome having SCN5A-related etiology. These include conduction disorder evidenced by longer QRS, PQ and His-ventricular interval duration. Novel lines of evidence suggest that SCN5A mutations are predictors of malignant arrhythmic events. In addition, SCN5A-positive patients and their carrier relatives frequently suffer from various abnormal cardiac phenotypes such as sick sinus syndrome and progressive conduction disorder. Rare variants have also been shown to play a role in cases of epilepsy, hyperthyroidism, irritable bowel syndrome and malignancy. Conclusion: In this review, we show how the SCN5A mutation status predicts phenotypic characteristics and prognosis in patients with BrS. We conclude that SCN5A mutations weakly predict greater malignant arrhythmic event risk in BrS patients. However, SCN5A mutations do not show robust enough associations with severity indicators to be an independent part of current risk stratification strategies. With advancing knowledge of BrS genetics, the integration of data on rare variants of SCN5A and polygenic risk scores could make an impact on clinical decision making.
Poster abstracts Case story: Primigravida, 34 years, IVF patient (both egg and sperm donation). At first trimester scan at local hospital a large nuchal translucency was found, and the patient was referred. We diagnosed a partial ectopia cordis (fistula from the right ventricle to the umbilicus, picture 1) and dextrocardia associated with a complex intra-cardiac defect (common atrioventricular valve with single right ventricle, double outlet right ventricle, DORV). Additional malformations were found: sternal cleft and 7 mm septate nuchal cystic hygroma. A striking hypercoiling of the umbilical cord was also seen. The patient opted for termination of pregnancy. The autopsy confirmed the prenatal findings. Fetal DNA was sent for array CGH, Agilent 180K. Prenatal, autopsy and array CGH findings will be presented. There seems to be a strong correlation between the PC and umbilical abnormalities, in particular in cases with ectopia cordis. Atypical coiling pattern of the umbilical cord has previously been descibed.
Psoriasis is a chronic, systemic inflammatory disease that has gained popularity among scientific research from many promising perspectives on diagnosis and treatment. Individuals with psoriasis associate numerous comorbidities and have many predisposing factors in common especially with heart disease. Based on this, researchers tried to identify the common pathogenic mechanisms, the impact of risk factors on both pathologies, the influence of one disease on the another as well as the impact of novel therapies used in psoriasis on cardiovascular system, in order to improve the prognosis and quality of life of these patients. Areas of uncertainty. Pathogenic mechanisms involved both in psoriasis and atherosclerotic disease are not fully understood, especially in relationship with actual treatment strategies and their impact on prognosis. The purpose of this descriptive review is to summarize the latest available data, to see whether current treatment strategies of psoriatic disease should take into consideration the risk of cardiovascular disease (CVD) when one drug should be chosen at the expense of another. Data sources. Literature research was performed using electronic database (PubMed, Cochrane Library and Web of Science) between January 2010 and June 2022. We used different keywords and MeSH terms to generate the most relevant results regarding psoriasis and cardiovascular disease. First, we evaluated the titles and abstracts of the articles and we excluded papers that didn’t met selection criteria.
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