The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal ARCN1-Related Syndrome

Mutations in ARCN1 give rise to a syndromic disorder with rhizomelic short stature with microretrognathia and developmental delay. ARCN1 encodes the delta subunit of the coat protein I complex, which is required for intracellular trafficking of collagen 1 and which may also be involved in the endoplasmic reticulum (ER) stress response. In this paper we describe for the first time the skeletal histological abnormalities in an 18-week-old fetus with an ARCN1 mutation, and we suggest that the skeletal phenotype in ARCN1-related syndrome has more resemblance with ER stress than with a defect in collagen 1 metabolism

Histological evidence of a connection between true and false lumen in spontaneous coronary artery dissection

The pathophysiological mechanism underlying spontaneous coronary artery dissection remains unclear. Although an endothelial-intimal disruption is assumed to be involved as either a primary or secondary event, the presence of a tear in the coronary intima has not been histologically presented, to our knowledge. We present three autopsy cases of spontaneous coronary artery dissection in which histopathological examination revealed an intimal tear and connection between true and false lumen in the area of the dissection

Dysrhythmias in patients with a complete atrioventricular septal defect: From surgery to early adulthood

Contains fulltext : 203679.pdf (publisher's version ) (Open Access

Time course and interrelationship of dysrhythmias in patients with surgically repaired atrial septal defect

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Identification of low-voltage areas a unipolar, bipolar, and omnipolar perspective

BACKGROUND: Low-voltage areas (LVAs) are commonly considered surrogate markers for an arrhythmogenic substrate underlying tachyarrhythmias. It remains challenging to define a proper threshold to classify LVA, and it is unknown whether unipolar, bipolar, and the recently introduced omnipolar voltage mapping techniques are complementary or contradictory in classifying LVAs. Therefore, this study examined similarities and dissimilarities in unipolar, bipolar, and omnipolar voltage mapping and explored the relation between various types of voltages and conduction velocity (CV). METHODS: Intraoperative epicardial mapping (interelectrode distance 2 mm, ±1900 sites) was performed during sinus rhythm in 21 patients (48±13 years, 9 male) with atrial volume overload. Cliques of 4 electrodes (2×2 mm) were used to calculate the maximal unipolar, bipolar, and omnipolar voltages and mean CV. Areas with maximal bipolar or omnipolar clique voltage ≤0.5 mV were defined as LVA. RESULTS: The maximal unipolar clique voltage was not only larger than maximal bipolar clique voltage but also larger than maximal omnipolar clique voltage (7.08 [4.22-10.59] mV versus 5.27 [2.39-9.56] mV and 5.77 [2.58-10.52] mV, respectively, P<0.001). In addition, the largest bipolar clique voltage was on average 1.66 (range: 1.0-59.0) times larger to the corresponding perpendicular bipolar voltage pair. LVAs identified by a bipolar or omnipolar threshold corresponded to a broad spectrum of unipolar voltages and, although CV was generally decreased, still high CVs and large unipolar voltages were found in these LVAs. CONCLUSIONS: In patients with atrial volume overload, there were considerable discrepancies in the different types of LVAs. Additionally, the identification of LVAs was hampered by considerable directional differences in bipolar voltages. Even using directional independent omnipolar voltage to identify LVAs, high CVs and large unipolar voltages are present within these areas. Therefore, a combination of low unipolar and low omnipolar voltage may be more indicative of true LVAs

Frequent atrial extrasystolic beats predict atrial fibrillation in patients with congenital heart defects

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Atrial electrophysiological characteristics of aging

Introduction: Advancing age is a known risk factor for developing atrial fibrillation (AF), yet it is unknown which electrophysiological changes contribute to this increased susceptibility. The goal of this study is to investigate conduction disturbances and unipolar voltages (UV) related to aging. Methods: We included 216 patients (182 male, age: 36–83 years) without a history of AF undergoing elective coronary artery bypass surgery. Five seconds of sinus rhythm were recorded intraoperatively at the right atrium (RA), Bachmann's bundle (BB), the left atrium and the pulmonary vein area (PVA). Conduction delay (CD), -block (CB), -velocity (CV), length of longest CB lines and UV were assessed in all regions. Results: With aging, increasing conduction disturbances were found, particularly at RA and BB (RA: longest CB line rs =.158, p =.021; BB: CB prevalence rs =.206, p =.003; CV rs = −.239, p <.0005). Prevalence of low UV areas (UV <5th percentile) increased with aging at the BB and PVA (BB: rs =.237, p <.0005 and PVA: rs =.228, p =.001). Conclusions: Aging is accompanied by an increase in conduction disturbances during sinus rhythm and a higher prevalence of low UV areas, particularly at BB and in the RA. These electrophysiological alterations could in part explain the increasing susceptibility to AF development associated with aging