A bicuspid aortic valve (BAV) is the most prevalent congenital cardiac deformity, which is associated with an increased risk to develop a thoracic aortic aneurysm and/or an aortic dissection as... Show moreA bicuspid aortic valve (BAV) is the most prevalent congenital cardiac deformity, which is associated with an increased risk to develop a thoracic aortic aneurysm and/or an aortic dissection as compared to persons with a tricuspid aortic valve. Due to the high prevalence of a BAV in the general population and the associated life-long increased risk for adverse vascular events, BAV disease places a considerable burden on the public health. The aim of the present review is to discuss the role of transforming growth factor beta (TGF-ss) signaling in the development of the vascular wall and on how this complex signaling pathway may be involved in thoracic aortic aneurysm formation in tricuspid and BAV patients. Show less
Dolmaci, O.B.; Legue, J.; Lindeman, J.H.N.; Driessen, A.H.G.; Klautz, R.J.M.; Brakel, T.J. van; ... ; Grewal, N. 2021
Background Bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, which is often complicated by aortic valve stenosis (AoS). In tricuspid aortic valve (TAV), AoS strongly... Show moreBackground Bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, which is often complicated by aortic valve stenosis (AoS). In tricuspid aortic valve (TAV), AoS strongly associates with coronary artery disease (CAD) with common pathophysiological factors. Yet, it remains unclear whether AoS in patients with BAV is also associated with CAD. This study investigated the association between the aortic valve morphological features and the extent of CAD.Methods and Results A single-center study was performed, including all patients who underwent an aortic valve replacement attributable to AoS between 2006 and 2019. Coronary sclerosis was graded on preoperative coronary angiographies using the coronary artery greater even than scoring method, which divides the coronaries in 28 segments and scores nonobstructive (20%-49% sclerosis) and obstructive coronary sclerosis (>49% sclerosis) in each segment. Multivariate analyses were performed, controlling for age, sex, and CAD risk factors. A total of 1296 patients (931 TAV and 365 BAV) were included, resulting in 548 matched patients. Patients with TAV exhibited more CAD risk factors (odds ratio [OR], 2.66; 95% CI, 1.79-3.96; P<0.001). Patients with BAV had lower coronary artery greater even than 20 (1.61 +/- 2.35 versus 3.60 +/- 2.79) and coronary artery greater even than 50 (1.24 +/- 2.43 versus 3.37 +/- 3.49) scores (P<0.001), even after correcting for CAD risk factors (P<0.001). Patients with TAV more often needed concomitant coronary revascularization (OR, 3.50; 95% CI, 2.42-5.06; P<0.001).ConclusionsPatients with BAV who are undergoing surgery for AoS carry a lower cardiovascular risk profile, correlating with less coronary sclerosis and a lower incidence of concomitant coronary revascularization compared with patients with TAV. Show less
Legue, J.; Francois, J.H.M.; Rijswijk, C.S.P. van; Brakel, T.J. van 2020
Gorlin-Chaudhry-Moss syndrome (GCMS) is a rare disorder consisting of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, and ocular and dental anomalies. Recently, GCMS has been... Show moreGorlin-Chaudhry-Moss syndrome (GCMS) is a rare disorder consisting of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, and ocular and dental anomalies. Recently, GCMS has been reclassified together with Fontaine syndrome as Fontaine progeroid syndrome (FPS), after a common genetic basis was found. It was previously thought that GCMS/FPS was not associated with aortopathy, but in recent years 3 patients with aortic disease have been described. We describe the fourth case, who is the oldest patient with GCMS/FPS reported in the medical literature: a 45-year-old patient who presented with acute aortic dissection. We therefore recommend screening patients previously diagnosed with GCMS/FPS for aortic pathology to aid early detection and avoid patient presentation in an acute setting. Show less
Purpose A significant number of patients with traumatic brain injuries (TBI) are diagnosed with elevated blood alcohol concentration (BAC). Recent literature suggests a neuroprotective effect of... Show morePurpose A significant number of patients with traumatic brain injuries (TBI) are diagnosed with elevated blood alcohol concentration (BAC). Recent literature suggests a neuroprotective effect of alcohol on TBI, possibly associated with less morbidity and mortality. Our goal is to analyze the association of different levels of BAC with TBI characteristics and outcome. Methods Adult patients with moderate to severe TBI (AIS >= 2) and measured BAC admitted to the Trauma Centre West (TCW), during the period 2010-2015, were retrospectively analyzed. Data included injury severity (AIS), length of hospitalization, admittance to the Intensive Care Unit (ICU) and in-hospital mortality. The association of BAC with ICU admittance and in-hospital mortality was analyzed using multivariable logistic regression analysis with correction for potentially confounding variables. Results BACs were available in 2,686 patients of whom 42% had high, 26% moderate, 6% low and 26% had normal levels. Patients with high BAC's were predominantly male, were younger, had lower ISS scores, lower AIS-head scores and less concomitant injuries compared to patients in the other BAC subgroups. High BACs were associated with a lower risk for in-hospital mortality (AOR 0.36, 95% CI 0.14-0.97). Also, patients with moderate and high BACs were less often admitted to the ICU (respectively, AOR 0.36, 95% CI 0.25-0.52 and AOR 0.40, 95% CI 0.29-0.57). Conclusion The current study suggests that in patients with moderate to severe TBI, increasing BACs are associated with less severe TBI, less ICU admissions and a higher survival. Further research into the pathophysiological mechanism is necessary to help explain these findings. Show less
