CORONARY ARTERY DISEASES IN SYSTEMIC ILLNESSES: Coronary Arterial Involvement in Connective Tissue Disorders and Other Diseases

Author(s):  
Raj Kumar ◽  
Divya Malhotra
Heart ◽  
2016 ◽  
Vol 102 (11) ◽  
pp. 876-881 ◽  
Author(s):  
Stanislav Henkin ◽  
Sara M Negrotto ◽  
Marysia S Tweet ◽  
Salman Kirmani ◽  
David R Deyle ◽  
...  

Author(s):  
Keren J. Carss ◽  
Anna A. Baranowska ◽  
Javier Armisen ◽  
Tom R. Webb ◽  
Stephen E. Hamby ◽  
...  

Background: Spontaneous coronary artery dissection (SCAD) occurs when an epicardial coronary artery is narrowed or occluded by an intramural hematoma. SCAD mainly affects women and is associated with pregnancy and systemic arteriopathies, particularly fibromuscular dysplasia. Variants in several genes, such as those causing connective tissue disorders, have been implicated; however, the genetic architecture is poorly understood. Here, we aim to better understand the diagnostic yield of rare variant genetic testing among a cohort of SCAD survivors and to identify genes or gene sets that have a significant enrichment of rare variants. Methods: We sequenced a cohort of 384 SCAD survivors from the United Kingdom, alongside 13 722 UK Biobank controls and a validation cohort of 92 SCAD survivors. We performed a research diagnostic screen for pathogenic variants and exome-wide and gene-set rare variant collapsing analyses. Results: The majority of patients within both cohorts are female, 29% of the study cohort and 14% validation cohort have a remote arteriopathy. Four cases across the 2 cohorts had a diagnosed connective tissue disorder. We identified pathogenic or likely pathogenic variants in 7 genes ( PKD1 , COL3A1 , SMAD3 , TGFB2 , LOX , MYLK , and YY1AP1 ) in 14/384 cases in the study cohort and in 1/92 cases in the validation cohort. In our rare variant collapsing analysis, PKD1 was the highest-ranked gene, and several functionally plausible genes were enriched for rare variants, although no gene achieved study-wide statistical significance. Gene-set enrichment analysis suggested a role for additional genes involved in renal function. Conclusions: By studying the largest sequenced cohort of SCAD survivors, we demonstrate that, based on current knowledge, only a small proportion have a pathogenic variant that could explain their disease. Our findings strengthen the overlap between SCAD and renal and connective tissue disorders, and we highlight several new genes for future validation.


VASA ◽  
2010 ◽  
Vol 39 (2) ◽  
pp. 175-179
Author(s):  
Hakimi ◽  
Geisbüsch ◽  
Gross ◽  
Hyhlik-Dürr ◽  
Hausser ◽  
...  

We want to report and discuss the indication for open surgery for an asymptomatic penetrating aortic ulcer (PAU) in the era of thoracic endovascular aortic repair (TEVAR). A 31-year-old female presented with the diagnosis of an aneurysm in the distal aortic arch. With respect to the patient’s young age, the controversial status of connective tissue disorders and in the absence of concomitant disease, open repair was indicated. There was no proof of a mycotic plaque or connective tissue disease in the microbiological-, pathological analysis and at electron-microscopy. The patient was discharged on the thirteenth postoperative day. In spite of good preliminary results of TEVAR in PAU, in selective cases there is still an indication for open surgery.


2014 ◽  
Vol 6 (2) ◽  
pp. 107-111
Author(s):  
S Munwar ◽  
AHMW Islam ◽  
S Talukder ◽  
AQM Reza ◽  
T Ahmed ◽  
...  

Background: Aim of the study was to evaluate the primary procedural success of percutaneous coronary intervention of unprotected left main coronary artery stenosis using either Bare-metal stents or drug eluting stent. Methods: Total 33 patients were enrolled in this very preliminary non-randomized prospective cohort study. Among them, Male: 25 and Female: 8. Total 35 stents were deployed. Mean age were for Male: 59 yrs, for Female: 62 yrs. Associated coronary artery diseases risk factors were dyslipidemia, High Blood pressure, Diabetes Mellitus, Positive family history for coronary artery diseases and smoking. Results: Among the study group; 26 (78%) were Dyslipidemic, 24(70%) were hypertensive; 17 (51.5%) patients were Diabetic, 11(33%) were smoker and 7(21%) patients had family history of Ischaemic heart disease. Female patients were more obese (BMI M 26: F 27) and developed coronary artery diseases in advance age. Common stented territory were left main: 20 (60%), Left main to left anterior descending artery 7 (22%) and Left main to left circumflex artery 6 (18%). Average length and diameter of stent was 3.5 and 18 mm respectively. Stent used: Bare Metal Stent 5 (15%), Drug Eluting Stent: 28 (85%). Among the different Drug Eluting Stents, Everolimus eluting stents were 11 (39.3%), Sirolimus eluting 10(35.7%), Paclitaxel eluting 3 (10.7%), Biolimus eluting 3 (10.7%) and Zotarolimus eluting1 (3.6%). In the present study, overall survival outcome was 94% (31 patient), mortality of cardiac cause 3% (1 patient) and 1 patient (3%) died of hepatocellular carcinoma. Conclusion: Our study has shown that percutaneous coronary intervention of the unprotected left main is a safe and effective alternative to Coronary Artery Bypass Graft (CABG). DOI: http://dx.doi.org/10.3329/cardio.v6i2.18349 Cardiovasc. j. 2014; 6(2): 107-111


2012 ◽  
Vol 3 (6) ◽  
pp. 19-21
Author(s):  
Dr.Ashish Patela ◽  
◽  
Dr.Dipika Sathvara ◽  
Dr.Himanshu Patel ◽  
Dr.C.Chakrabarti Dr.C.Chakrabarti

Author(s):  
L.M. Karamova ◽  
V.O. Krasovskiy ◽  
D.M. Vagapova ◽  
N.V. Vlasova ◽  
A.S. Khafizova ◽  
...  

Relevance. The importance of studying and analyzing contribution of occupational risk factors in musculoskeletal disorders among emergency medical personnel is related to high disease incidence rates and work specifics. The objective of our research envisaged formalization of information obtained for the analysis and assessment of occupational risks of developing musculoskeletal and connective tissue disorders in ambulance personnel. Results. According to professional medical examination results, musculoskeletal and connective tissue disorders ranked second among all diagnosed diseases. The relative risk of developing those disorders was 70% indicating the link between them and transport vibration (category 1) affecting the backbone during long trips in ambulance cars.


MicroRNA ◽  
2020 ◽  
Vol 09 ◽  
Author(s):  
Rashid Mir ◽  
Imadeldin Elfaki ◽  
Chandan k Jha ◽  
Jamsheed Javid ◽  
Suriya Rehman ◽  
...  

Aim: Apart from the modifiable risk factors, genetic factors are believed to also influence the outcome of the coronary artery diseases (CAD). Under the genetic factors, miRNA polymorphisms, namely Hsa-miR-146a-5p (rs2910164) have become an important tool to study the mechanism that underlies the pathogenesis of this disease. Therefore, we investigated the association of miR-146a gene variations with susceptibility of coronary artery diseases. Methodology: This study was conducted on 100 CAD patients and 117 matched healthy individuals. Genotyping of the Hsa-miR-146a-5p C>G gene variation was performed by using amplification refractory mutation system PCR method (ARMS-PCR). Results: The distribution of Hsa-miR-146a-5p rs2910164 C>G genotypes observed between patients and controls was significantly different (P=0.048). Moreover, the frequency of G allele (fG) was found to be significantly higher among patients than in controls (0.36 vs. 0.25). Our findings showed that the Hsa-miR-146a-5p C>G variant was associated with an increased risk of CAD in codominant inheritance model CC vs. CG genotype (OR = 1.84, 95 % CI, 1.02-3.31; p=0.040) and (OR = 3.18, 95 % CI, 1.02-9.9; p=0.045) for CC vs. GG genotype in dominant inheritance model. Whereas the G allele significantly increased the risk of coronary artery disease (OR =1,81, 95 % CI, 1.18-2.78; p=0.006) compared to C allele. Taken together, these results demonstrated that miR-146a/rs2910164 is associated with susceptibility to coronary artery disease, providing novel insights into the genetic etiology and underlying biology of coronary artery disease. Conclusion: Our findings indicated that Hsa-miR-146a-5p rs2910164 GG genotype and G allele are associated with an increased susceptibility to Coronary Artery Disease. A larger sample size can be the key to progress in establishing the genetic co-relation of miRNA gene polymorphisms and cardiovascular diseases.


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