History Of Connective Tissue Disease Research Articles

Open Versus Endovascular Left Subclavian Artery Revascularization Outcomes in Thoracic Endovascular Aortic Repair: A National Study

Left subclavian artery (LSA) revascularization is recommended in patients undergoing elective thoracic endovascular aortic repair (TEVAR) with LSA coverage. However, the outcomes of open vs endovascular techniques for LSA revascularization remain poorly studied due to lack of high-quality evidence. The aim of this study is to use a large national database to compare the effects of open vs endovascular LSA revascularization for LSA coverage during TEVAR on the perioperative outcomes of stroke, arm ischemia (AI), spinal cord ischemia (SCI), 30-day mortality, and reintervention. Patients who had undergone LSA revascularization for LSA coverage in the Vascular Quality Initiative TEVAR database between 2011 and 2022 were identified. Patients with no coverage of the LSA, no LSA revascularization after LSA coverage, conversion to open repair, proximal disease > zone 5, distal zone disease < zone 3, and genetic history of connective tissue disease were excluded. We divided our cohort into two groups: open and endovascular revascularization of LSA. Open LSA revascularization was defined as treatment with surgical bypass. Endovascular LSA revascularization was defined as treatment with stent, stent graft, chimney, scallop, stented scallop, fenestration, stented fenestration, fenestrated branch, side-arm branch, and iliac device. Outcomes were perioperative stroke, AI, SCI, 30-day mortality, and reintervention. A total of 3052 patients met our inclusion criteria. There were 2396 (78.5%) patients in the open LSA revascularization group and 656 (21.5%) patients in the endovascular LSA revascularization group. The results are summarized in the Table. When compared with open LSA revascularization, endovascular LSA revascularization showed no significant difference in the risk of stroke (adjusted odds ratio [aOR]: 1.1, 95% confidence interval [CI]: 0.8-1.5; P = .498), AI (aOR: 1.5, 95% CI: 0.7-3.1; P = .273), SCI (aOR: 0.7, 95% CI: 0.3-1.5; P = .337), and 30-day mortality (aOR: 1.3, 95% CI: 0.8-2.0; P = .254). Furthermore, there was no significant difference in the risk of reintervention (aOR: 0.7, 95% CI: 0.4-1.2; P = .166). In this analysis of Vascular Quality Initiative data, both open and endovascular LSA revascularization for LSA coverage during TEVAR were equally effective and durable with no significant difference in outcomes of stroke, AI, SCI, 30-day mortality, and reintervention. Thus, endovascular LSA revascularization is a viable alternative to open LSA revascularization that could reduce the need for staged carotid-subclavian bypass or transposition procedures. Further studies are warranted to compare the long-term outcomes of open vs endovascular LSA revascularization, in addition to comparing the outcomes of specific endovascular techniques to each other.TableMultivariate logistic regression of stroke, arm ischemia (AI), spinal cord ischemia (SCI), 30-day mortality, and reintervention outcomesOutcomeEndovascular LSA revascularization vs open LSA revascularizationaOR (95% CI) (reference = open LSA revascularization)P valueStroke1.1 (0.8-1.5).498AI1.5 (0.7-3.1).273SCI0.7 (0.3-1.5).33730-day mortality1.3 (0.8-2.0).254Reintervention0.7 (0.4-1.2).166aOR, adjusted odds ratio; CI, confidence interval; LSA, left subclavian artery. Open table in a new tab

Neonatal Lupus Erythematosus in a 2-Month-Old Girl: A Case Report

Neonatal lupus erythematosus is a rare acquired disease involving the fetus and the newborn. It is caused by autoantibodies (mainly anti-SSA/Ro and anti-SSB/La antibodies) in the mother entering the fetus through the placenta to cause autoimmune reactions, The most common clinical manifestations of neonatal lupus erythematosus include skin involvement and congenital heart block, as well as blood, respiratory, neurological, and digestive system abnormalities. Patients often go to pediatrics or dermatology with rash as the first symptom. Because the rash is atypical, there is often a risk of misdiagnosis or missed diagnosis. We report a case of 2-month-old baby. Physical examination showed that dark red infiltrating macula was scattered on forehead and plantar. ANA positive, anti-SSA/Ro antibody positive, anti-SSB/La antibody positive, no involvement of the heart or other organ systems was found. Her mother was a patient with lupus erythematosus. The diagnosis of neonatal lupus erythematosus was made according to the history and clinical manifestations, symptomatic treatment was given to the rash site, and after 4 months, the rash disappeared at a follow-up visit. ANA, Anti SSA/Ro antibodies and anti SSB/La antibodies all turned negative. The etiology, clinical manifestation, prevention and treatment of neonatal lupus erythematosus were discussed in combination with existing literature. It was emphasized that autoantibody testing should be carried out for women and pregnant women with reproductive requirements in order to detect and prevent neonatal lupus erythematosus in time. For unexplained skin rashes of infants, if the mother has a history of connective tissue disease, the possibility of neonatal lupus erythematosus should be considered.

Late Giant Aortic Root Aneurysm Following Aortic Valve Replacement

A 74-year-old female with previous permanent pacemaker insertion for complete heart block and no history of connective tissue disease presented to our regional cardiothoracic center with progressive exertional shortness of breath. Nine years later, when the patient was 83 years old, a computed tomography scan of the thoracic aorta revealed an isolated aneurysm of the aortic root measuring 7.6 × 5.1 cm at the sinus of Valsalva.

Interactions Between Genome-Wide Genetic Factors and Smoking Influencing Risk of Systemic Lupus Erythematosus.

To identify interactions between genetic factors and current or recent smoking in relation to risk of developing systemic lupus erythematosus (SLE). For the study, 673 patients with SLE (diagnosed according to the American College of Rheumatology 1997 updated classification criteria) were matched by age, sex, and race (first 3 genetic principal components) to 3,272 control subjects without a history of connective tissue disease. Smoking status was classified as current smoking/having recently quit smoking within 4 years before diagnosis (or matched index date for controls) versus distant past/never smoking. In total, 86 single-nucleotide polymorphisms and 10 classic HLA alleles previously associated with SLE were included in a weighted genetic risk score (wGRS), with scores dichotomized as either low or high based on the median value in control subjects (low wGRS being defined as less than or equal to the control median; high wGRS being defined as greater than the control median). Conditional logistic regression models were used to estimate both the risk of SLE and risk of anti-double-stranded DNA autoantibody-positive (dsDNA+) SLE. Additive interactions were assessed using the attributable proportion (AP) due to interaction, and multiplicative interactions were assessed using a chi-square test (with 1 degree of freedom) for the wGRS and for individual risk alleles. Separate repeated analyses were carried out among subjects of European ancestry only. The mean ± SD age of the SLE patients at the time of diagnosis was 36.4 ± 15.3 years. Among the 673 SLE patients included, 92.3% were female and 59.3% were dsDNA+. Ethnic distributions were as follows: 75.6% of European ancestry, 4.5% of Asian ancestry, 11.7% of African ancestry, and 8.2% classified as other ancestry. A high wGRS (odds ratio [OR] 2.0, P = 1.0 × 10-51 versus low wGRS) and a status of current/recent smoking (OR 1.5, P = 0.0003 versus distant past/never smoking) were strongly associated with SLE risk, with significant additive interaction (AP 0.33, P = 0.0012), and associations with the risk of anti-dsDNA+ SLE were even stronger. No significant multiplicative interactions with the total wGRS (P = 0.58) or with the HLA-only wGRS (P = 0.06) were found. Findings were similar in analyses restricted to only subjects of European ancestry. The strong additive interaction between an updated SLE genetic risk score and current/recent smoking suggests that smoking may influence specific genes in the pathogenesis of SLE.

P98. What drives disability in cervical deformity: novel patient generated outcome versus legacy HRQL

BACKGROUND CONTEXT Existing health outcome (HRQL) metrics do not adequately capture disability from cervical deformity (CD) and do not correlate with cervical malalignment. In the novel Patient Generated Index (PGI) patients report their greatest difficulties related to their CD. These results were used to determine items that should be included in a CD-specific HRQL. PURPOSE To utilize the PGI to reveal the aspects of CD disability not captured by existing HRQLs. STUDY DESIGN/SETTING Retrospective review of a prospective CD database. PATIENT SAMPLE A total of 45 CD patients. OUTCOME MEASURES HRQL metrics: PGI, NDI, mJOA, EQ-5D. METHODS CD patients completed the PGI by describing aspects of their disability that bother them the most. The responses were weighted and scored. PGI responses were categorized into domains: Sagittal discomfort/range of motion (ROM), Activities of Daily Living (ADL), and Social Life/Hobbies. PGI scores and legacy HRQL metrics were correlated with alignment, pain, age, sex, BMI, and medical comorbidities. R2 values are reported for linear regression models that include the drivers significantly associated with each HRQL metric. RESULTS Forty-five CD patients (mean cSVA: 51mm) including 12 PGI patients (mean cSVA: 62mm) were included for analysis. PGI scores were found to be driven significantly by age and C2 Slope (r2=0.50). NDI was driven significantly by neck pain, back pain, and BMI (r2=0.32). mJOA was driven significantly by Charlson Comorbidity Score, back pain and weight (r2=0.33). EQ5D was significantly driven by CBVA, age and T1 Slope (r2=0.78). When examining PGI domains, Sagittal Discomfort/ROM score was driven significantly by cSVA and age (r2=0.54). ADL score was driven by CBVA and a medical history of neuromuscular disease (r2=0.87). Social Life/Hobbies score was driven by Charlson Comorbidity Scores, a medical history of ankylosing spondylitis, and a medical history of connective tissue disease (r2=1.0). Horizontal Gaze/Walking Safety, Pain, and Neurologic Complaints did not correlate significantly with alignment, pain, demographic info or past medical history. CONCLUSIONS Legacy HRQLs do not adequately capture CD disability and do not correlate with cervical malalignment. In a CD cohort, PGI scores and EQ5D scores were driven significantly by sagittal alignment. However, mJOA and NDI were driven by pain and medical comorbidities. FDA DEVICE/DRUG STATUS This abstract does not discuss or include any applicable devices or drugs.

Clinicopathologic features of Cronkhite-Canada syndrome and the significance of IgG4-positive plasma cells infiltration

Objective: To analyze the clinical and pathological features of Cronkhite-Canada syndrome (CCS), and to investigate the significance of IgG4 positive plasma cell infiltration. Methods: Clinical presentations, endoscopic appearances and morphological features of 18 patients diagnosed with CCS at Peking Union Medical College Hospital during 2000-2016 were included in the study.There were 11 male and 7 female patients. IgG4 and IgG immunohistochemical stains were performed in total of 55 biopsies from the patients (36 polyps, 10 adenoma and 9 surrounding mucosa) and a control group of 58 cases (19 colonic mucosa, 7 colonic hyperplastic polyps, 9 inflammatory bowel disease and 23 adenoma). Results: Average age of CCS was 59 years (range 47-69 years) and the male to female ratio was 11∶7. All patients had at least one ectoderm lesion. Fourteen cases had testicular abnormalities. Digestive tract symptoms were encountered in most cases. Four patients had a history of connective tissue disease. Endoscopically, multiple polyps were found to involve entire gastrointestinal tract except the esophagus. Morphologically, CCS polyps were characterized by prominent mucosal edema, mild to moderate inflammation, glands hyperplasia and cystic dilatation. Ten cases had colonic adenoma and one case had rectal adenocarcinoma. While none of the cases reached the diagnostic criteria of IgG4 disease, the positive rate of IgG4 positive plasma cells in adenoma of CCS was significantly higher than that in polyps and surrounding mucosa of CCS (60.0%∶13.9%∶0, P<0.01). The positive rate of IgG4 positive plasma cells of adenoma and polyp of CCS had an increased tendency compared to that of adenoma and polyp of control group (60.0%∶34.8%; 13.9%∶0). Conclusion: The findings in the study do not support that CCS is a variant of IgG4 disease, although IgG4 positive plasma cells may be involved in the pathogenesis of CCS, which may be explored in future investigations.

Low rate of reoperations after acute type A aortic dissection repair from The Nordic Consortium Registry

ObjectivesTo describe the relationship between the extent of primary aortic repair and the incidence of reoperations after surgery for type A aortic dissection. MethodsA retrospective cohort of 1159 patients treated for type A aortic dissection at eight Nordic low- to medium-sized cardiothoracic centers from 2005 to 2014. Data were gathered from patient records and national registries. Patients were separately divided into 3 groups according to the distal anastomoses technique (ascending aorta [n = 791], hemiarch [n = 247], and total arch [n = 66]), and into 2 groups for proximal repair (aortic root replacement [n = 285] and supracoronary repair [n = 832]). Freedom from reoperation was estimated with cumulative incidence survival and Fine-Gray competing risk regression model was used to identify independent risk factors for reoperation. ResultsThe median follow-up was 2.7 years (range, 0-10 years). Altogether 51 out of 911 patients underwent reoperation. Freedom from distal reoperation at 5 years was 96.9%, with no significant difference between the groups (P = .22). Freedom from proximal reoperation at 5 years was 97.8%, with no difference between the groups (P = .84). Neither DeBakey classification nor the extent of proximal or distal repair predicted freedom from a later reoperation. The only independent risk factor associated with a later proximal reoperation was a history of connective tissue disease. ConclusionsType A aortic dissection repair in low- to medium-volume centers was associated with a low reoperation rate and satisfactory midterm survival. The extent of the primary repair had no significant influence on reoperation rate or midterm survival.

Estimating the incidence of interstitial lung diseases in the Cree of Eeyou Istchee, northern Québec.

BackgroundLittle is known about the epidemiology of interstitial lung disease (ILD) amongst Canada’s Indigenous populations. Clinicians working in Eeyou Istchee (the Cree territory of the James Bay region of Québec, population 17, 956) suspected that ILD was more common in this area. We sought to identify all prevalent and incident cases of ILD in Eeyou Istchee between 2006 and 2013, to describe characteristics of affected patients, distribution of subtypes, and estimate disease incidence.MethodsPotential ILD cases amongst Eeyou Istchee residents were identified by searching hospitalization databases and lists of patients on long term home oxygen in the region’s nine communities, and surveying physicians and nurses. Clinical, radiological and pathological data were reviewed. Potential cases were classified as ‘Definite ILD’ if an open lung biopsy demonstrated ILD or, in the absence of histopathologic confirmation, if their thoracic CT imaging was deemed consistent with ILD by a panel of two respirologists and a chest radiologist. Potential cases for whom CT images could not be retrieved for our review were not eligible for classification as Definite ILD, unless they had undergone open lung biopsy. The Definite ILD group was further categorized by subtype of ILD. For usual interstitial pneumonia and non-specific interstitial pneumonitis patterns, we assumed cases were idiopathic in the absence of documentation of connective tissue disease or occupational exposures in the medical chart. For Definite ILD and the most common subtype, we calculated the average annual incidence rates, age-standardized to the province of Quebec, for 2006 to 2013, using a gamma distribution to calculate 95% confidence intervals.ResultsOf 167 potential cases, 52 were categorized as Definite ILD: 14 on the basis of histopathology and 38 on the basis of CT imaging alone. Six patients had a prior history of connective tissue disease. Information on occupation was recorded in the charts of 18/52 (35%) cases, and missing in the remainder. We found the most common subtype was idiopathic pulmonary fibrosis (27/52, 52%), followed by idiopathic non-specific interstitial pneumonia (13/52, 25%), and secondary usual interstitial pneumonia associated with connective tissue diseases (5/52, 10%). The age-standardized annual incidence between 2006–2013 was 80 per 100,000 person-years observed (PYO) for ILD, and 46 per 100,000 PYO for idiopathic pulmonary fibrosis.InterpretationThe incidence of ILD and of idiopathic pulmonary fibrosis in Eeyou Istchee may be higher than rates reported in other populations; however, cautious interpretation is required due to the lack of histopathological confirmation in the majority of cases, and our reliance on chart review to exclude secondary causes. A prospective study of incident cases with standardized assessments to establish the types of ILD and to assess for potential causes could overcome some of the limitations of the present analysis. Studies evaluating ILD incidence and subtype distribution in other Indigenous populations would also be of interest.

Aortic Dissection of Unknown Origin in a Young Patient: A Case Report

Aortic dissection occurs when a tear develops in the wall of the aorta, which is rare in the young population. This fatal disorder is hard to diagnose, especially in young patients. We present the case of aortic dissection in a 15-year-old boy referred to the Emergency Department of Yazd University of Medical Sciences in November 2015. The patient presented to our department with sudden acute chest pain. Emergent computed tomography (CT) scanning of the brain, chest, and abdomen reflected bilateral pleural effusion, biluminal aorta, arterial flap in the upper part of the abdominal aorta, and dilated small bowl loop. The patient did not have any aortic dissection risk factors such as history of connective tissue disease, congenital heart disease, coarctation of the aorta, and hypertension. The only noticeable point in the patient’s history was swimming two hours before the onset of the chest pain. Aortic dissection is a rare differential diagnosis in children with acute sudden chest pain.

Bilateral Shoulder Combined with Unilateral Knee Dislocation After a Fall

A 54-year-old overweight woman presented to the emergency department (ED) complaining of severe pain and lack of movement in both shoulders and her left knee. Her medical history revealed that the episode began after slipping on the wet floor in the bathroom. The first dislocation of the knee joint occurred during the fall when she lost her balance, and the second occurred when she tried to use her arms to avoid hitting her head on the wet floor. There was no history of connective tissue disease, seizure, or prior dislocations. During clinical examination, there was no evidence of neurovascular deficit for upper extremities and left knee. Radiographs confirmed bilateral anterior glenohumeral dislocation combined with anterior left knee dislocation (Figure 1). Bilateral anterior shoulder dislocations are reported less often. A recent review of 70 patients demonstrated that the causes of anterior injuries were trauma (50%), muscle contractions (37%) due to seizures or electrocution, and atraumatic events (13%). Because of various etiologies, dislocation mechanisms are different. Lever effect is a type of dislocation mechanism that forces abduction and external rotation of the arm. With the greater tuberosity pressing against the acromion, the humeral head is forced anteriorly out of the glenohumeral joint (1, 2). The patient, in this case, had low-energy trauma as well as left knee dislocation. Complete dislocation of the knee causes devastating extremity injuries, particularly in the popliteal artery and peroneal nerve. The incidence of nerve and artery injury due to knee dislocation is 10%–40%. Even worse, when a vascular injury secondary to a traumatic knee dislocation cannot be repaired within 8 h, the amputation rate increases to nearly 85%. Therefore, vascular assessment should include examination of both the dorsalis pedis and posterior tibial pulses, ankle-brachial index measurement, and computerized tomography (CT) angiography or arteriography. The patient had no clinical signs of vascular and nerve injury at the time of admission and observation, so she did not urgently need further radiological study such as CT angiography (3, 4).

Pulmonary artery dissection caused by extension of a chronic type a aortic dissection through a patent ductus arteriosus.

A 41-year-old woman presented to our hospital with chest discomfort, cough, and worsening shortness of breath for 2 months. She had no history of connective tissue disease or family history of aortic catastrophes. Five years before this presentation, she had undergone physical examination in a hospital, and transthoracic echocardiography showed type A aortic dissection. The patient, despite the advice of several cardiologists and cardiac surgeons, had always refused surgical correction. Routine contrast-enhanced computed tomography and transthoracic echocardiography were performed. Imaging revealed a chronic type A aortic dissection originating from the aortic annulus and extending to the aortic arch that was associated with moderate aortic regurgitation. The aortic dissection infiltrated the pulmonary trunk through the patent ductus arteriosus (PDA; Figure 1). The concomitant anomaly was moderate mitral valve insufficiency diagnosed on the basis of transthoracic echocardiography. The patient underwent elective surgery. After induction of general anesthesia, the procedure was performed through a full median sternotomy under cardiopulmonary bypass with moderate hypothermic circulatory arrest at 25°C, right axillary artery cannulation for cardiopulmonary bypass, and selective antegrade cerebral perfusion. Figure 1. Routine contrast-enhanced computed tomography ( A ) showing aortic dissection infiltrating the pulmonary trunk through the patent ductus arteriosus (arrow). Transthoracic echocardiography ( B ) showing that the dissection flap is visible in the ascending aortic artery (AAO) and pulmonary artery (PA; arrow). Computed tomography angiographic images …

Outcomes after stent graft therapy for dissection-related aneurysmal degeneration in the descending thoracic aorta

Stent graft therapy has emerged as an alternative to open surgery in the management of chronic dissection-related aneurysmal degeneration (DRAD) in the descending thoracic aorta (DTA). The incidence of perioperative complications, need for secondary aortic intervention (SAI), and rate of aneurysmal false-lumen thrombosis have not been thoroughly described. Perioperative and midterm outcomes in patients who underwent stent graft therapy for chronic DRAD DTA at a single institution between January 2006 and September 2013 were retrospectively analyzed. Preoperative anatomic factors, including the number of visceral and renal side branches off the false lumen, and false lumen volume, were analyzed for their ability to predict treatment failure. Treatment failure was defined as death, need for a SAI, and failure to achieve thrombosis of the DRAD DTA. Treatment success was defined as thrombosis of the false lumen in the area of the DRAD DTA with stability or a decrease in the maximum diameter of the DRAD DTA. During the study period, 47 patients underwent stent graft therapy for chronic DRAD DTA. Patients were a mean age of 58.3 ± 11.7 years, 74.5% (n = 35) were male, and 14.9% (n = 7) had a history of connective tissue disease. The left subclavian artery was covered in 48.9% (n = 23), and revascularization was performed in 87.0% (n = 20). Spinal drains were used in 74.5% (n = 35). Spinal cord ischemia developed in 6.4% (n = 3), which resolved in two and improved in one. No retrograde aortic dissections occurred. The 30-day mortality was 4.3% (n = 2); one death was in a patient with rupture. Mean clinical follow-up was 35.1 ± 20.9 months. The 5-year Kaplan-Meier survival was 89% ± 5%. Treatment failure occurred in 18 patients (38.3%): 9 required SAIs, 6 did not have thrombosis of the false lumen in the area of the DRAD DTA, and 4 died, with 1 patient dying during a SAI. No preoperative anatomic factor predicted treatment failure. The 5-year freedom from treatment failure was 54% ± 9%. Including the nine patients who underwent SAI, treatment success was achieved in 85.2% of patients. In this single-center experience of stent graft therapy for chronic DRAD DTA, treatment success was achieved in 85% of patients after a SAI rate of 20%. No preoperative anatomic factor predicted treatment failure, which occurred in almost 40% of the patients. Identifying predictors of treatment failure may improve future outcomes.

Rheumatoid lung sine arthritis – An unusual case mimicking idiopathic pulmonary fibrosis

We present the case of a 72-year-old male, with no history of connective tissue disease or musculoskeletal symptoms, who presented to our pulmonary clinic with five years of worsening dyspnea and presyncope with exertion. Pertinent findings on evaluation were computerized tomography of the chest showing diffuse honeycombing, pulmonary function tests demonstrating an intrinsic restrictive ventilatory defect, labs significant for an elevated C-reactive protein and erythrocyte sedimentation rate, and serologies remarkable for positive rheumatoid factor, positive anti-cyclic citrullinated peptide antibodies, and positive anti-nuclear antibody. Despite never having articular or other systemic manifestations of rheumatoid arthritis (RA), the patient was diagnosed with rheumatoid lung disease, started on definitive therapy and referred to rheumatology. An awareness of this unusual presentation of connective tissue related lung disease is critical to prevent misdiagnosis as idiopathic pulmonary fibrosis, so proper management and optimal patient outcomes are ensured.

Hughes syndrome and multiple sclerosis.

Multiple sclerosis (MS) and antiphospholipid syndrome (APS) share common clinical, laboratory and radiological features. We reviewed all the English papers on MS and APS published in the literature from 1965 to 2014 using PubMed and Google Scholar. We found that APS can mimic antiphospholipid antibodies (aPL)-positive MS in many ways in its clinical presentation. Nevertheless, APS diagnosis, clinical manifestations and management differ from those of MS. aPL were found in MS patients with titers ranging from 2% to 88%. The distribution and volume of lesions on magnetic resonance imaging (MRI) may help to differentiate MS from primary APS. In addition, atypical MS presentation can guide physicians toward an alternative diagnosis, especially when features of thrombosis and/or history of connective tissue disease are present. In that case, an anticoagulation trial could be worthwhile.

Lambdoidal synostosis in dizygotic twins with a family history of an undiagnosed connective tissue disorder

Unilateral lambdoidal craniosynostosis is a rare disorder that occurs in approximately 3 % of all craniosynostosis phenotypes and only 0.03 % of one million live births. It is even more unusual for this type of synostosis to occur in siblings with only two other cases reported in the literature. We report a set of full-term dizygotic twins born with lambdoidal synostosis and a family history of connective tissue and cardiovascular anomalies. One of the twins also had concomitant bicoronal craniosynostosis. True familial lambdoidal synostosis is exceedingly rare. The present cases in dizygotic twins occurred in a family with a significant history of connective tissue disease suggesting a possible association.

Association of collagen type I alpha 1 gene polymorphism with inguinal hernia

A positive family history is an important risk factor for inguinal hernia development, suggesting a genetic trait for hernia disease. However, gene mutations responsible for abdominal wall hernia formation in humans have not yet been studied. We aimed to evaluate whether the functional Sp1 binding site polymorphism within intron 1 of the collagen type I, alpha 1 (COL1A1) gene was associated specifically with inguinal hernia disease. 85 participants with surgically diagnosed inguinal hernia disease, and 82 physically active controls without any history of connective tissue disease and hernia were recruited for this case-control genetic association study. Polymerase chain reaction and restriction fragment length polymorphism and agarose gel electrophoresis techniques were used to detect these polymorphisms. Significantly, more patients gave a positive family history for an inguinal hernia compared to healthy controls (OR 3.646, 95 % CI 1.375-9.670, P = 0.006). COL1A1 Sp1 SNP (rs 1800012) was identified. Results demostrated statistically significant deviation from HWE for cases (P = 0.007), but not for the controls (P = 0.276). Our results revealed an increased frequency of COL1A1 Sp1 Ss genotype in inguinal hernia patients (OR 3.593, 95 % CI 1.867-6.915, P = 0.000). This results suggest that polymorphism of the COL1A1 Sp1 binding site is associated with an increased risk for developing inguinal hernias. So, rs 1800012 locus is a potential candidate region for susceptibility in molecular mechanism of inguinal hernia pathophysiology.

Multiple strokes and bilateral carotid dissections: A fulminant case of newly diagnosed Ehlers–Danlos Syndrome Type IV

Ehlers–Danlos Syndrome is a rare group of inheritable disorders resulting in abnormal collagen production, leading to skin fragility, joint hypermobility and easy bruising. Six major subtypes have been identified, of which Type IV most often leads to neurovascular complications, may lead to inner organ rupture and overall has the worst prognosis. Early recognition followed by genetic testing is key, since this diagnosis will guide decision making in the management of complications, influence the choice of antiplatelet medications versus anticoagulants and allow for potentially affected family members to be identified, undergo genetic testing and reproductive counseling.We here report the case of a 50year old woman with a fulminant presentation of Ehlers Danlos Syndrome Type IV, including bilateral carotid and vertebral artery dissection, multiple strokes and liver rupture. Of note, this patient did not have a known history or obvious clinical features of connective tissue disease. Genetic testing confirmed the diagnosis. Review of her family history revealed multiple family members with a history of aortic dissection or aneurysm rupture.This case illustrates that Ehlers Danlos Syndrome Type IV is an important differential diagnosis even in adult patients without a known history of connective tissue disease and no prior complications.

Iatrogenic Aortic Dissection … or Intramural Hematoma?

A 65-year-old black woman with hypertension and type 2 diabetes mellitus presented to her local hospital with acute chest discomfort. She had no history of connective tissue disease or family history of aortic catastrophes. An ECG showed inferior ST-segment elevation. Coronary angiography revealed multiple high-grade lesions in the right coronary artery (RCA) with evidence of thrombus (Movie I in the online-only Data Supplement). There were also critical stenoses in the left coronary system. Percutaneous coronary intervention of the RCA with 3 bare metal stents was successful in establishing Thrombolysis in Myocardial Infarction grade 3 flow, but deployment of the fourth stent was complicated by proximal RCA dissection with extension into the aortic sinuses (Figure 1 and Movie II in the online-only Data Supplement). Despite obliteration of the RCA dissection with the stent, persistent dye staining of the ascending aorta was present on final angiographic views (Figure 2). A computed tomography scan performed 2 days later showed an ascending aorta intramural hematoma (IMH;Figure 3). Plans were made for complete surgical revascularization in 6 weeks, and she was discharged. Aside from several brief episodes of chest discomfort in the first week after discharge, she remained asymptomatic. Three weeks after the initial event, the patient presented for a second opinion at our institution. Figure 1. Left anterior oblique angiographic view of the right coronary artery. An intracoronary guidewire (arrowhead) …

Idiopathic aortitis: an underrecognized vasculitis

Aortitis is a general term denoting inflammation of the aortic wall. Various infectious and non-infectious diseases can be complicated by aortitis; in addition, isolated idiopathic aortitis has also been described. In a 12-year nationwide Danish population-based study, the prevalence of aortitis among 1,210 resected thoracic aorta samples was 6.1%, with nearly three-quarters of cases being idiopathic. Identified risk factors for aortitis included advanced age, a history of connective tissue disease, diabetes mellitus, and heart valve pathology. As in virtually all pathological studies, this study has a bias toward reporting the most severe cases of aortitis requiring surgical repair.

Predictors for pathologically confirmed aortitis after resection of the ascending aorta: A 12-year Danish nationwide population-based cross-sectional study

IntroductionAssessing the prevalence of, and predictors for, pathologically-confirmed inflammation of the aorta in Denmark, using a nationwide population-based study design.MethodsWe identified all adults with first-time surgery on the ascending aorta between January 1, 1997 and March 1, 2009 in Denmark. Presence of aortic inflammation was ascertained through linkage to a nationwide pathology registry. We used logistic regression to compute prevalence odds ratios (ORs) for sex, age at surgery, cardiovascular risk factors, cancer, connective tissue disease, and infectious diseases associated with the presence of aortitis.ResultsA total of 1,210 adults underwent resection of the ascending aorta, of who 610 (50.4%) had tissue submitted for pathological examination. Aortitis was found in 37 (6.1%) patients whose tissue was examined. Ten of the 37 patients were diagnosed with conditions known to be associated with aortitis or aortic aneurysm: five patients with temporal arteritis, one with Crohn's disease, one with rheumatoid arthritis, one with systemic lupus erythematosus, one with infectious aortitis, and one with Marfan's disease. Twenty-seven patients had idiopathic aortitis. Predictors of aortitis included history of connective tissue disease (adjusted OR 4.7, 95% confidence interval (CI) 1.6, 13.6), diabetes (OR 5.2, 95% CI 0.9, 29.7), advanced age (> 67 years OR 2.5, 95% CI 0.8, 7.6), and aortic valve pathology (OR 2.3, 95% CI 1.1, 4.9).ConclusionsAortitis was present in 6.1% of adults in Denmark who had pathological examination after resection of the ascending aorta. Predictors of inflammation included connective tissue disease, diabetes, advanced age, and aortic valve pathology.