Left ventricular noncompaction associated with a pathogenic mutation in the MYH7 gene: Known mutation,different phenotype

Left ventricular noncompaction (LVNC) is a genetically heterogeneous cardiomyopathy, with familial and sporadic forms, but genetic testing only identifies a pathogenic mutation in a minority of cases. The main complications are heart failure, embolism and dysrhythmias. Herein we report a familial case of LVNC associated with a mutation in the MYH7 gene and review the literature regarding controversies in LVNC. A 50-year-old woman was referred to the cardiology clinic for palpitations. She underwent echocardiography and cardiac magnetic resonance imaging that revealed mild left ventricular systolic dysfunction and LVNC criteria. She had several episodes of non-sustained ventricular tachycardia and received an implantable cardioverter-defibrillator (ICD). Genetic testing revealed the c.1003G>C (p.Ala335Pro) mutation in the MYH7 gene. Familial screening showed clear genotype-phenotype cosegregation, which provided strong evidence for the pathogenic role of this mutation. To the best of our knowledge, this is the first report of LVNC associated with the p.Ala335Pro mutation in the MYH7 gene. This mutation has been described in hypertrophic cardiomyopathy, suggesting that the same pathogenic sarcomere mutation may be associated with different cardiomyopathies. This case also highlights the current difficulties regarding decisions on ICD implantation for primary prevention of sudden cardiac death in LVNC.     

Caractéristiques de l’atteinte cardiaque au cours de la granulomatose éosinophilique avec polyangéite

Aim of the studyOur study aimed to identify the characteristics of cardiac involvement in eosinophilic granulomatosis with polyangiitis (EGPA).MethodsWe conducted a retrospective analytic study including EGPA cases diagnosed between 2000 and 2019 in an internal medicine department. Diagnosis was made according to the 1990 American College of Rheumatology criteria and the 2012 Chapel Hill Concensus.ResultsEleven EGPA cases were included, 64% of patients were female. Median age at diagnosis was 52 years [42–58]. Heart damage revealed EGPA in 55% of cases with a significant predominance of women (p = 0.015). The main cardiac manifestations were myocarditis, ischemic cardiomyopathy due to small vessel vasculitis, cardiac tamponade and intracardiac thrombus. Cardiac magnetic resonance imaging (MRI) mainly showed subendocardial hyposignal in early infusion and late enhancement in the same areas, nodular by locations, associated with impaired left ventricle function and micro-infarctions by distal vasculitis. Cardiac damage was associated to ANCA negativity in 83.3% of cases. The median Birmingham Vasculitis Activity Score version3 (BVAS v3) was 16 [10–17]. Under conventional treatment, no relapses had occurred. The median vasculitis damage index (VDI) was 2 [1–2.3] and the mortality rate was zero after a mean follow-up of 43 months.ConclusionCardiomyopathy is a frequent revealing mode of EGPA. A late onset asthma and hypereosinophilia should guide the diagnosis. As ANCA research often turns out to be negative, histological evidence is recommended in this context. The contribution of cardiac MRI in the diagnosis of EGPA remains to be defined.     

中西医一体化防治增生性瘢痕的研究现状

皮肤瘢痕是一个巨大的医学问题,每年约有1亿患者产生瘢痕。瘢痕的预防/治疗在很大程度上还没有得到满足的临床需求。瘢痕的形成通常是皮肤创伤的病理结果。而增生性瘢痕(hypertrophic scar,HTS)常发生在人深部损伤后。HTS通常被认为是组织收缩和过度的细胞外基质沉积的结果。肌成纤维细胞作为主要由成纤维细胞分化而来的效应细胞,在HTS的病理生理中起着至关重要的作用。多种生长因子、炎症因子参与了HTS发生的过程。目前,随着对HTS的深入探索和临床研究,各种创造性和有效的治疗方法正在萌芽。本文就HTS中西医形成机制研究进展进行综述,并针对其病理生理特点,对现有的中西医综合治疗方法进行综述。此外,我们进一步展望更适合的HTS中西医综合治疗的特色与方法。     

Myocardial extracellular volume fraction to differentiate healthy from cardiomyopathic myocardium using dual-source dual-energy CT

ObjectiveTo evaluate the feasibility of dual-energy CT (DECT)-based iodine quantification to estimate myocardial extracellular volume (ECV) fraction in patients with and without cardiomyopathy (CM), as well as to assess its ability to distinguish healthy myocardial tissue from cardiomyopathic, with the goal of defining a threshold ECV value for disease detection.MethodsTen subjects free of heart disease and 60 patients with CM (mean age 66.4 ± 9.4; 59 males and 11 females; 40 ischemic and 20 non-ischemic CM) underwent late iodine enhanced DECT imaging. Myocardial iodine maps were obtained using 3-material decomposition. ECV of the left ventricle was estimated from hematocrit levels and the iodine maps using the AHA 16-segment model. Receiver operating characteristic curve analysis was performed, with corresponding area under the curve, along with Youden's index assessment, to establish a threshold for CM detection.ResultsThe median ECV for healthy myocardium, non-ischemic CM, and ischemic CM were 25.4% (22.9–27.3), 38.3% (33.7–43.0), and 36.9% (32.4–41.1), respectively. Healthy myocardium showed significantly lower ECV values compared to ischemic and non-ischemic CM (p < 0.001). From Youden's index analysis, an ECV>29.5% would indicate the presence of CM in the myocardium (sensitivity = 90.3; specificity = 90.3); the AUC for this criterion was 0.950 (p < 0.001).ConclusionThe findings of this study resulted in a statistically significant distinction between healthy myocardium and CM ECVs. This led to the establishment of a promising threshold ECV value that could facilitate the differentiation between healthy and diseased myocardium, and highlights the potential of this DECT methodology to detect cardiomyopathic tissue.     

Inflammatory and infectious complications of laser therapy in treatment of hypertrophic burn scars: Correlations in literature review & case reports

IntroductionHypertrophic burn scars contribute to morbidity through secondary symptoms of pain, pruritus, and scar contracture. Traditional treatment methods are now augmented by the use of monochromatic light therapies, which are generally accepted as safe and effective. However, little literature is available regarding the complications of laser treatments of hypertrophic burn scars and even less regarding inflammatory and infectious complications.MethodsA literature search using PubMed was performed to identify literature pertaining to infectious and inflammatory complications of cutaneous laser treatments. Additionally, we reviewed cases of inflammatory and infectious complications occurring at our institution after laser treatment of hypertrophic burn scars.ResultsWe identified 1 publication related to complications of laser therapy in the treatment of burn scars. In this series of 163 laser sessions, the reported incidence of adverse events was 25.1%, of which 6 cases 3.7% were related to inflammatory and infectious processes. In the 391 laser sessions performed at our institution (December, 2015 and July, 2016) 9 cases of inflammatory and infectious complications were noted yielding an incidence of 2.3%. Cases included 3 each of cellulitis, Systemic Inflammatory Response Syndrome (SIRS), and complicated SIRS.ConclusionWe found the most common inflammatory complication was SIRS with MSSA positive wound cultures. Three cases underwent hospitalization along with fluids and vasopressors, despite negative blood cultures. In light of the high prevalence of MSSA in the natural skin flora and negative blood cultures, the inability to establish a true source of infection lead to declaring these cases “complicated SIRS” and not sepsis. Correlative factors that may have led to complications reported in our cases were: preoperative evidence of infection, no preoperative antibiotics administered, no postoperative antibiotic dressings, combined procedures, and large treatment areas. The true mechanism of inflammatory and infectious complication is yet to be determined, but we postulate that these factors place a greater challenge on an already burdened immune system. Determining whether this is a true causal mechanism, leading to an aggravated inflammatory response, benefits from further investigation.Applicability of research to practiceWe urge institutions preforming such procedures to advise patients on preoperative wound preparation. We recommend that each individual with a preexisting history of infection and/or preoperative culture evidence of infection receive antibiotics, particularly when undergoing combined procedures or procedures involving higher surface areas. Although complications are rare, the benefits of these precautionary measures outweigh the risks when it comes to prevention and management.     

特发性扩张型心肌病患者左心室逆重构的发生率、预测因素和预后分析

目的探讨特发性扩张型心肌病患者左心室逆重构(LVRR)的发生率、预测因素及预后。方法回顾性分析2014年1月至2017年5月于焦作市第二人民医院住院的51例特发性扩张型心肌病患者的一般临床资料和超声心动图数据,以复查时左心室射血分数(LVEF)绝对值增加10%以上的患者为LVRR组,LVEF绝对值增加低于10%的为NLVRR组。计算LVRR的发生率,采用logistic回归分析LVRR的预测因素,比较两组心力衰竭恶化再住院率,并采用Kaplan-Meier生存曲线法分析两组死亡率。结果特发性扩张型心肌病患者LVRR的发生率为51.0%(26/51)。LVRR的预测因素为心力衰竭病史<1年(OR=0.065,95%CI:0.007~0.562,P=0.013)和首次LVEF≥35%(OR=23.457,95%CI:2.687~204.770,P=0.004)。LVRR组的住院次数为2.8±2.9,NLVRR组为3.4±2.3,两组比较差异有统计学意义(P=0.003)。Kaplan-Meier生存曲线法分析显示,LVRR组患者的预后优于NLVRR组(95%CI:96.442~120.323和95%CI:69.909~98.364,P=0.017)。结论特发性扩张型心肌病患者的LVRR发生率为51.0%,心力衰竭病史小于1年和首次LVEF≥35%为其预测因素,此类患者预后改善。