scholarly journals The Genetic Determinants of Aortic Distension

Author(s):  
James P. Pirruccello ◽  
Seung Hoan Choi ◽  
Mark D. Chaffin ◽  
Mahan Nekoui ◽  
Elizabeth L. Chou ◽  
...  

As the largest conduit vessel, the aorta is responsible for the conversion of phasic systolic inflow from ventricular ejection into more continuous blood delivery to peripheral arteries. Distension during systole and recoil during diastole conserves ventricular energy and is enabled by the specialized composition of the aortic extracellular matrix. Aortic distensibility decreases with age and prematurely in vascular disease. To discover genetic determinants of aortic distensibility we trained a deep learning model to quantify aortic size throughout the cardiac cycle and calculate aortic distensibility and aortic strain in 42,342 participants in the UK Biobank with available cardiac magnetic resonance imaging. In up to 40,028 participants with genetic data, common variant analysis identified 12 and 26 loci for ascending and 11 and 21 loci for descending aortic distensibility and strain, respectively. Of the newly identified loci, 22 were specific to strain or distensibility and were not identified in a thoracic aortic diameter GWAS within the same samples. Loci associated with both aortic diameter and aortic strain or distensibility demonstrated a consistent, inverse directionality. Transcriptome-wide analyses, rare-variant burden tests, and analyses of gene expression in single nucleus RNA sequencing of human aorta were performed to prioritize genes at individual loci. Loci highlighted multiple genes involved in elastogenesis, matrix degradation, and extracellular polysaccharide generation. Characterization of the genetic determinants of aortic function may provide novel targets for medical intervention in aortic disease.

2014 ◽  
pp. 71-76
Author(s):  
Minh Hoa Tran ◽  
Thi Thuy Hang Nguyen

Background: Cigarette smoking causes endothelial cell injury, loss of smoothness, elasticity, it would be easy to form plaques in the endothelium. Etude of elasticity of ascending aorta by echocardiography in male smokers contribute to the assessment of vascular changes through indices such as aortic strain, aortic stiffness, aortic distensibility. Aim: was to estimate the effects of chronic smoking on the elastic properties of the ascending aorta. Material and Methods: this study was carried on 180 male subject, 90 smokers, mean age 37.56 ± 7.31 and 90 healthy male non-smokers with similar age. They are all under echocardiography to measure systolic aortic diameter and diastolic aortic diameter, determine the indexes such as: aortic strain, aortic stiffness, aortic distensibility and blood pressure simultaneously. Results: strain index and aortic distensibility is significantly lower in smokers than the control group, whereas stiffness index in smokers is higher than the control group with p <0.001. Conclusions: In tobacco addicts, smoking change the elasticity of the aorta, so it is a predictor of cardiovascular risk factors. Keywords: Tobacco addicts, aortic elastic properties, echocardiography


Hypertension ◽  
2021 ◽  
Vol 78 (Suppl_1) ◽  
Author(s):  
Joseph H Breeyear ◽  
Megan M Shuey ◽  
Todd L Edwards ◽  
Jacklyn Hellwege

Hypertension is estimated to affect more than 49.6% of US adults 20 years and older. Of those individuals with hypertension, more than ten million are classified as apparent treatment resistant hypertensive (aTRH). The attributable risk of uncontrolled hypertension was estimated to be 49% for cardiovascular disease and 62% for stroke. We developed a polygenic risk score (PRS) for systolic (SBP) and diastolic (DBP) blood pressure to examine the association between the genetic determinants of blood pressure and aTRH with the goal of identifying high risk individuals. The meta-analyzed transethnic results of Giri et al., Biobank Japan, and Liang et al. were used to generate a PRS with PRS-CS followed by p -value thresholding, and validation in the UK Biobank (n max =341,930). Associations were modeled with logistic regression adjusted for age, age-squared, BMI, sex, and ten principal components of ancestry in BioVU’s transethnic population (n max =37,978), as well as non-Hispanic Black (n max =5,026) and non-Hispanic White (n max =28,545) subsets. The SBP PRS was significantly associated with an increased aTRH risk in the non-Hispanic White subset (1.08 (1.04 - 1.12), p = 0.00037) and transethnic (1.08 (1.04 - 1.13), p = 0.00020) populations, but not the non-Hispanic Black subset. The DBP PRS was not associated with aTRH in any population. Our findings present evidence that individuals with a higher genetic predisposition towards hypertension are at higher risk of aTRH. By integrating polygenic risk scores and clinical covariates in prediction of aTRH, individuals’ therapeutic regimens may be tailored to help maintain stable blood pressures, therefore reducing their risk of comorbidities.


Angiology ◽  
2019 ◽  
Vol 70 (7) ◽  
pp. 662-668 ◽  
Author(s):  
Mustafa Çelik ◽  
Erdoğan Sökmen ◽  
Serkan Sivri ◽  
Cahit Uçar ◽  
Rukiye Nar ◽  
...  

Endothelial dysfunction plays role in the generation of both essential hypertension (EH) and aortic stiffness. We evaluated the relationship between serum endocan level and aortic elastic properties (AEPs) assessed with the aortic strain, aortic distensibility, and aortic stiffness index by echocardiography. Newly diagnosed EH patients (n = 67) and controls (n = 70) were included in the study. The EH group was subdivided into stage 1 and 2 EH groups. A higher endocan level was found in the EH group, compared to the controls (34.2 ± 13.0 vs 24.1 ± 7.3 ng/mL, respectively, P < .001). All the AEP parameters were worse in the EH group, compared to the controls. Further, endocan levels correlated with aortic distensibility ( r = −0.305, P < .001) and aortic strain ( r = −0.181, P = .038), but not with aortic stiffness index ( r = 0.162, P = .064) in the whole study population. Aortic elastic properties deteriorate and serum endocan level increases in patients with EH. Moreover, serum endocan level shows a correlation with deteriorated AEPs, and hence may a surrogate marker of escalating aortic stiffness in patients with newly diagnosed EH.


2001 ◽  
Vol 19 (2) ◽  
pp. 84-92 ◽  
Author(s):  
Adrian White ◽  
Simon Hayhoe ◽  
Anna Hart ◽  
Edzard Ernst ◽  

Acupuncture is increasingly used, so it is important to establish whether its benefits outweigh its risks. Numerous case reports of adverse events show that acupuncture is not free of risk, but accurate data from prospective investigations is scarce. A prospective survey was undertaken using intensive event monitoring. Forms were developed for reporting minor events each month and significant events as they occurred. The sample size was calculated to identify any adverse events that occurred more frequently than once in 10,000 consultations. Acupuncturists were recruited from two professional organisations in the UK. Seventy-eight acupuncturists, all doctors or physiotherapists, reported a total of 2178 events occurring in 31,822 consultations, an incidence of 684 per 10,000 consultations. The most common minor adverse events were bleeding, needling pain, and aggravation of symptoms; aggravation was followed by resolution of symptoms in 70% of cases. There were 43 significant minor adverse events reported, a rate of 14 per 10,000, of which 13 (30%) interfered with daily activities. One patient suffered a seizure (probably reflex anoxic) during acupuncture, but no adverse event was classified as serious. Avoidable events included forgotten patients, needles left in patients, cellulitis and moxa burns. In conclusion, the incidence of adverse events following acupuncture performed by doctors and physiotherapists can be classified as minimal; some avoidable events do occur. Acupuncture seems, in skilled hands, one of the safer forms of medical intervention.


2012 ◽  
Vol 19 (1) ◽  
pp. 219-247
Author(s):  
David Ziebart

Responsible and caring parents seek the best possible medical care for their children. In the case of parents who are Jehovah’s Witnesses their religious beliefs prohibit medical intervention which uses blood. This prohibition specifically includes the refusal of blood transfusions even where such a refusal may result in the death of the person concerned. Jehovah’s Witnesses as a result are often viewed with animosity or contempt, considered foolhardy and recklessly disregarding life, martyring themselves and their children. This article seeks to examine the religious origins of the blood prohibition and attempts to set the rationale for refusal in its religious context. It also explores the approach of the courts in the UK, the US and Canada to Jehovah’s Witnesses children (supported by their parents) including those who have expressed a wish to refuse such treatment or else have been too young to do so. It concludes with presenting such refusal as a religious right which it is argued engages article 9 of the European Convention on Human Rights (ECHR).


2019 ◽  
Vol 5 (7) ◽  
pp. FSO406 ◽  
Author(s):  
Erdoğan Sökmen ◽  
Cahit Uçar ◽  
Serkan Sivri ◽  
Mustafa Çelik ◽  
Kenan Güçlü

Aim: We aimed to assess the relationship between echocardiographic parameters of aortic elasticity, namely aortic strain, aortic distensibility and aortic β-index, and serum growth differentiation factor (GDF)-15 in patients with newly diagnosed essential hypertension (HT). Methods: Grade-1 HT patients (n = 50), grade-2 HT (n = 70) patients and 35 healthy controls were included. Results: GDF-15 was greater in grade-2 HT group compared with the other groups. All aortic elasticity parameters were worse in grade-2 HT group compared with the other groups. GDF-15 correlated positively with E/E′ ratio (the ratio of transmitral E velocity to mean diastolic mitral annular velocity) and β-index; and aortic strain and aortic distensibility correlated negatively with serum GDF-15. β-index, aortic diastolic diameter and diastolic blood pressure were independently associated with GDF-15. Conclusion: GDF-15 may be utilized in the prediction of increased aortic stiffness.


VASA ◽  
2011 ◽  
Vol 40 (1) ◽  
pp. 41-48 ◽  
Author(s):  
Akcay ◽  
Akcay ◽  
Yeter ◽  
Durmaz ◽  
Keles ◽  
...  

Backround: Aortic elastic properties have been shown to be an important predictor of cardiovascular morbidity and mortality. Hyperthyroidism was shown to be an important cause of impaired aortic elastic properties both due to the direct effect of the thyroid hormones on the aorta and also due to modulating effects of thyroid hormones on the vascular renin angiotensin system. However, there is no study investigating the aortic elastic properties in Graves’s patients who were euthyroid. The goal of the present study was to investigate the aortic elastic properties of patients with Graves’ Ophtalmopathy (GO) who had been euthyroid for at least 3 months. Patients and methods: A cross-sectional study was performed on 47 GO patients and 27 controls. Aortic-diastolic and aortic-systolic diameters, aortic strain, aortic distensibility, and aortic stiffness indices were calculated from the diameter of the thoracic aorta as measured by transthoracic echocardiography. Results: The aortic stiffness index was markedly increased (31 ± 26 vs. 17 ± 8.9; p = 0.015) and aortic strain was markedly reduced (20.3 ± 10 % vs. 25.9 ± 12 %; p = 0.046) in the GO group relative to the control group. Aortic distensibility was statistically significantly decreased in the GO group as compared to the control group (9.5 ± 5.7 10-3/kPa vs. 13.5 ± 7.1 10-3/kPa; p = 0.022). Weak correlations were detected between GO severity and aortic distensibility (r = -0.333, p = 0.011) as well as the aortic stiffness index (r = 0.266, p = 0.044). Conclusions: Aortic elastic properties were impaired in patients with GO. Therefore, patients with GO, especially those with severe manifestations of the condition, should be followed closely with regard to the occurrence of future cardiovascular events.


2014 ◽  
pp. 84-89
Author(s):  
Thi Thuy Hang Nguyen

Background: Many studies has reported that chronic smoking affects arterial stiffness. Smoking causes changes in both peripheral and central blood vessel function, even in young or middle-aged smokers. Echocardiography is a noninvasive and simple test, simply, to help evaluate the elastic properties of ascending aorta through the indices such as aortic strain, aortic stiffness, aortic distensibility. Aim: To determine the association between smoking status and elastic indexes of the ascending aortia measured by echocardiography. Material and Methods: this study was carried on 180 male subject, 90 smokers, mean age 37.56 ± 7.31 years and 90 healthy male non-smokers with similar age. Echocardiography was done with the following indexes: systolic and diastolic aortic diameter, aortic strain, aortic stiffness, aortic distensibility and blood pressure. Relationship between these indexes and duration of smoking was determined. Results: In group of smoking <17 pack one year, the indices of aortic elasticity is not different from the control group, p> 0,05. In group of smoking ≥ 17 pack year, strain index and aortic distensibility are significantly lower than the control group, whereas stiffness index is higher than the control group with p <0.001. Strain index and aortic distensibility of the ascending aorta were negatively correlated with duration of smoking, with p <0.0001. Stiffness index is positively correlated with duration of smoking, with p <0.0001. Conclusions: Smoking have decreased ascending aortic distensibility compared to non-smokers in a manner is related to duration of smoking. Keywords: Duration of smoking, aortic elastic properties, echocardiography


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