Does Anatomic Phenotype of Mitral Annular Disjunction Impact Survival? An Autopsy-Based Retrospective Study

Controversies have been raised regarding the prevalence and potential clinical significance of mitral annular disjunction (MAD). We aim to address the anatomic characteristics of MAD and their association, if any, on survival. We retrospectively reviewed 1373 consecutive dissected hearts (1017 men, mean age at death 44.9 ± 0.4 y) and frequently detected MAD (median disjunctional length: 2.0 mm, range: 1.5 mm~8.5 mm), with the prevalence of 92.1% over the entire mitral annulus and 74.9% within the posterior annulus (pMAD). The presence of pMAD was associated with increased all-cause mortality (45 y vs. 49 y, hazard ratio [HR]: 1.28, 95% confidence interval [CI]: 1.11~1.47, p < 0.001), which persisted in the context of cardiovascular diseases (CVDs; 46 y vs. 51 y, HR: 1.33, 95% CI: 1.14~1.56, p < 0.001) but was insignificant in those without CVDs. Compared to those without pMAD, individuals with pMAD affecting the entire posterior annulus or having a mean standardized length of ≥1.78 showed other clinically significant cardiovascular phenotypes, including the enlargement of aortic annular circumferences and a higher occurrence of thoracic aortic aneurysm/dissection. This largest series of autopsies show that MAD is a common phenotype that may exert additive influence on the survival of individuals. It is necessary to establish a precise classification and stratification of MAD.

Review of the Development of Haemodynamic Modelling Techniques to Capture Flow Behaviour in Arteries Affected by Aneurysm, Atherosclerosis and Stenting

Cardiovascular diseases (CVDs) are the leading cause of death in the developed world. CVD can include atherosclerosis, aneurysm, dissection or occlusion of the main arteries. Many CVDs are caused by unhealthy haemodynamics. Some CVDs can be treated with the implantation of stents and stent grafts. Many investigations have sought to understand the effects stents and stent grafts have on arteries and the haemodynamic changes post-treatment. Many studies on stent haemodynamics have been carried out using Computational Fluid Dynamics (CFD), and have yielded significant insight into the effect of stent mesh design on near wall blood flow and improving haemodynamics. Particle Image Velocimetry (PIV) has also been used to capture behaviour of fluids that mimic physiological haemodynamics. However, PIV studies have largely been restricted to unstented models or intra-aneurysmal flow rather than peri or distal stent flow behaviours. PIV has been used both as a standalone measurement method and as a comparison to validate the CFD studies. This article reviews the successes and limitations of several experimental methods used to investigate the haemodynamic effects of stents. The review includes an overview of physiology and relevant mechanics of arteries as well as consideration of boundary conditions and the working fluids used to simulate blood for each modelling method along with the benefits and limitations introduced.

Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2

Marfan syndrome (MFS) and Loeys–Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia lentis as a distinguishing, characterising feature, and thoracic aortic ectasia, aneurysm, dissection, and systemic features as manifestations overlapping with LDS4. LDS4 is characterised by the presence of hypertelorism, cleft palate and/or bifid uvula, with possible ectasia or aneurysms in other arteries. The variable age of onset of clinical manifestations makes clinical diagnosis more difficult. In this study, we report the case of a patient with Marfan syndrome diagnosed at our centre at the age of 33 on the basis of typical clinical manifestations of this syndrome. At the age of 38, the appearance of ectasia of the left common iliac artery and tortuosity of the iliac arteries suggested the presence of LDS4. Next Generation Sequencing (NGS) analysis, followed by Array-CGH, allowed the detection of a novel chromosomal deletion including the entire TGFB2 gene, confirming not only the clinical suspicion of LDS4, but also the clinical phenotype associated with the haploinsufficiency mechanism, which is, in turn, associated with the deletion of the entire gene. The same mutation was detected in the two young sons. This emblematic case confirms that we must be very careful in the differential diagnosis of these two pathologies, especially before the age of 40, and that, in young subjects suspected to be affected by MFS in particular, we must verify the diagnosis, extending genetic analysis, when necessary, to the search for chromosomal alterations. Recently, ectopia lentis has been reported in a patient with LDS4, confirming the tight overlap between the two syndromes. An accurate revision of the clinical parameters both characterising and overlapping the two pathologies is highly desirable.

Hospitalisations for emergency-sensitive conditions in Germany during the COVID-19 pandemic: insights from the German-wide Helios hospital network

BackgroundWhile there are numerous reports that describe emergency care during the early COVID-19 pandemic, there is scarcity of data for later stages. This study analyses hospitalisation rates for 37 emergency-sensitive conditions in the largest German-wide hospital network during different pandemic phases.MethodsUsing claims data of 80 hospitals, consecutive cases between 1 January and 17 November 2020 were analysed and compared with a corresponding period in 2019. Incidence rate ratios (IRRs) comparing the two periods were calculated using Poisson regression to model the number of hospitalisations per day.ResultsThere was a reduction in hospitalisations between 12 March and 13 June 2020 (coinciding with the first pandemic wave) with 32 807 hospitalisations (349.0/day) as opposed to 39 379 (419.0/day) in 2019 (IRR 0.83, 95% CI 0.82 to 0.85, p<0.01). During the following period (14 June–17 November 2020, including the start of second wave), hospitalisations were reduced from 63 799 (406.4/day) in 2019 to 59 910 (381.6/day) in 2020, but this reduction was not as pronounced (IRR 0.94, 95% CI 0.93 to 0.95, p<0.01). During the first wave hospitalisations for acute myocardial infarction, aortic aneurysm/dissection, pneumonitis, paralytic ileus/intestinal obstruction and pulmonary embolism declined but subsequently increased compared with the corresponding periods in 2019. In contrast, hospitalisations for sepsis, pneumonia, obstructive pulmonary disease and intracranial injuries were reduced during the entire observation period.ConclusionsThere was an overall reduction of absolute hospitalisations for emergency-sensitive conditions in Germany during the first 10 months of the COVID-19 pandemic with heterogeneous effects on different disease categories. The increase in hospitalisations for acute myocardial infarction, aortic aneurysm/dissection and pulmonary embolism requires attention and further studies.

Thoracic Endovascular Aortic Repair for Penetrating Aortic Ulcer in a Patient with Renal Failure: A Case Report

Thoracic Endovascular Aortic Repair (TEVAR) is a state-of-the art endovascular intervention used to treat various thoracic aortic pathologies such as aneurysm, dissection and penetrating aortic ulcers (PAU). The procedure demands significant technical skill and involves considerable cost burden for the patients. The latter is the main reason why the procedure has not yet made it to the routine clinical practice in Bangladesh. We recently performed TEVAR for the successful treatment of an ominous-looking PAU in the descending thoracic aorta in a patient with renal failure. Cardiovasc j 2021; 14(1): 88-92

Incidental Finding of Fibromuscular Dysplasia in a Right Upper Limb Radial Artery by Duplex Ultrasound

Fibromuscular dysplasia (FMD) is an idiopathic, non-atherosclerotic, and non-inflammatory systemic arterial disease which can affect all 3 layers of the small and medium-sized arteries. It can present as stenosis, aneurysm, dissection, or occlusion. FMD is more prevalent in women than in men. The medial type, described as a “string of beads appearance,” as documented in this case study, presents as a succession of dilatations and multifocal stenosis. This is the most common form and occurs in typically 60% to 70% of cases. We present a case report documenting an incidental finding of FMD within an upper limb forearm artery following percutaneous coronary intervention (PCI).

Update in Biomolecular and Genetic Bases of Bicuspid Aortopathy

Bicuspid aortic valve (BAV) associated with aortopathy is the most common congenital heart disease in the general population. Far from being a simple harmless valve malformation, it can be a complex and heterogeneous disease and a source of chronic and acute pathology (early valvular disease, aneurysm, dissection). In the previous years, intense research has been carried out to find out and understand its mechanisms, but the pathophysiology of the disease is still not fully understood and many questions remain open. Recent studies have discovered several genetic mutations involved in the development of valvular and aortic malformations, but still cannot explain more than 5–10% of cases. Other studies have also focused on molecular alterations and cellular processes (TGF-β pathway, microRNAs, degradation of the extracellular matrix, metalloproteinases, etc.), being a field in constant search and development, looking for a therapeutic target to prevent the development of the disease. Increased knowledge about this multifaceted disorder, derived from both basic and clinical research, may influence the diagnosis, follow-up, prognosis, and therapies of affected patients in the near future. This review focuses on the latest and outstanding developments on the molecular and genetic investigations of the bicuspid aortopathy.