scholarly journals Genetics of Human and Canine Dilated Cardiomyopathy

2015 ◽  
Vol 2015 ◽  
pp. 1-13 ◽  
Author(s):  
Siobhan Simpson ◽  
Jennifer Edwards ◽  
Thomas F. N. Ferguson-Mignan ◽  
Malcolm Cobb ◽  
Nigel P. Mongan ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Cardiac Disease ◽  
Clinical Characteristics ◽  
Genetic Basis ◽  
Genetic Research ◽  
Current Position ◽  
Genetic Loci ◽  
The Third ◽  
Similar Disease ◽  
Canine Dilated Cardiomyopathy

Cardiovascular disease is a leading cause of death in both humans and dogs. Dilated cardiomyopathy (DCM) accounts for a large number of these cases, reported to be the third most common form of cardiac disease in humans and the second most common in dogs. In human studies of DCM there are more than 50 genetic loci associated with the disease. Despite canine DCM having similar disease progression to human DCM studies into the genetic basis of canine DCM lag far behind those of human DCM. In this review the aetiology, epidemiology, and clinical characteristics of canine DCM are examined, along with highlighting possible different subtypes of canine DCM and their potential relevance to human DCM. Finally the current position of genetic research into canine and human DCM, including the genetic loci, is identified and the reasons many studies may have failed to find a genetic association with canine DCM are reviewed.

scholarly journals Family form of dilated cardiomyopathy

2021 ◽  
Vol 66 (5) ◽  
pp. 202-206
Author(s):  
D. I. Sadykova ◽  
T. P. Makarova ◽  
D. R. Sabirova ◽  
N. N. Firsova ◽  
A. A. Kucheryavaya ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Clinical Case ◽  
Genetic Basis ◽  
Genetic Research ◽  
Heterozygous State ◽  
Family Form ◽  
Mri Studies ◽  
Familial Form

Cardiomyopathy (CMP) is classified into familial and non-familial, which reflects the need to study the genetic basis of the disease. The article describes a clinical case of a familial form of non-compact cardiomyopathy in combination with a dilated form of cardiomyopathy. The article provides data of echocardiographic and MRI studies. The diagnosis was confirmed by genetic research, there was revealed a mutation in the MYH7 gene p.IIe201Thr in a heterozygous state, which is associated with the development of non-compact cardiomyopathy and dilated form of cardiomyopathy.

scholarly journals Multiple Genetic Associations with Irish Wolfhound Dilated Cardiomyopathy

2016 ◽  
Vol 2016 ◽  
pp. 1-14 ◽  
Author(s):  
Siobhan Simpson ◽  
Mark D. Dunning ◽  
Serena Brownlie ◽  
Janika Patel ◽  
Megan Godden ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Cardiac Disease ◽  
Genetic Factors ◽  
Morbidity And Mortality ◽  
Disease Development ◽  
Genetic Associations ◽  
Genetic Loci ◽  
Multiple Loci ◽  
Disease Mutations ◽  
Risk Of Disease

Cardiac disease is a leading cause of morbidity and mortality in dogs and humans, with dilated cardiomyopathy being a large contributor to this. The Irish Wolfhound (IWH) is one of the most commonly affected breeds and one of the few breeds with genetic loci associated with the disease. Mutations in more than 50 genes are associated with human dilated cardiomyopathy (DCM), yet very few are also associated with canine DCM. Furthermore, none of the identified canine loci explain many cases of the disease and previous work has indicated that genotypes at multiple loci may act together to influence disease development. In this study, loci previously associated with DCM in IWH were tested for associations in a new cohort both individually and in combination. We have identified loci significantly associated with the disease individually, but no genotypes individually or in pairs conferred a significantly greater risk of developing DCM than the population risk. However combining three loci together did result in the identification of a genotype which conferred a greater risk of disease than the overall population risk. This study suggests multiple rather than individual genetic factors, cooperating to influence DCM risk in IWH.

Race on Both Sides of the Razor

2018 ◽  
Vol 5 (1) ◽  
Author(s):  
Terence D. Keel
Keyword(s):  
Social Constructionism ◽  
Political Correctness ◽  
Genetic Basis ◽  
Genetic Research ◽  
Scientific Progress ◽  
Social Constructionist ◽  
Behavioral Differences ◽  
Social Activists ◽  
Continued Use ◽  
Biological Differences

The proliferation of studies declaring that there is a genetic basis to health disparities and behavioral differences across the so-called races has encouraged the opponents of social constructionism to assert a victory for scientific progress over political correctness. I am not concerned in this essay with providing a response to critics who believe races are expressions of innate genetic or biological differences. Instead, I am interested in how genetic research on human differences has divided social constructionists over whether the race concept in science can be used for social justice and redressing embodied forms of discrimination. On one side, there is the position that race is an inherently flawed concept and that its continued use by scientists, medical professionals, and even social activists keeps alive the notion that it has a biological basis. On the other side of this debate are those who maintain a social constructionist position yet argue that not all instances of race in science stem from discriminatory politics or the desire to prove that humans belong to discrete biological units that can then be classified as superior or inferior. I would like to shift this debate away from the question of whether race is real and move instead toward thinking about the intellectual commitments necessary for science to expose past legacies of discrimination.

scholarly journals The Genetic Basis of Hypertriglyceridemia

2021 ◽  
Vol 23 (8) ◽  
Author(s):  
Germán D. Carrasquilla ◽  
Malene Revsbech Christiansen ◽  
Tuomas O. Kilpeläinen
Keyword(s):  
Genetic Basis ◽  
Association Studies ◽  
Cumulative Effect ◽  
Genome Wide Association Studies ◽  
Genetic Loci ◽  
Risk Variants ◽  
Genome Wide ◽  
Severe Hypertriglyceridemia ◽  
Increased Risk ◽  
Polygenic Scores

Abstract Purpose of Review Hypertriglyceridemia is a common dyslipidemia associated with an increased risk of cardiovascular disease and pancreatitis. Severe hypertriglyceridemia may sometimes be a monogenic condition. However, in the vast majority of patients, hypertriglyceridemia is due to the cumulative effect of multiple genetic risk variants along with lifestyle factors, medications, and disease conditions that elevate triglyceride levels. In this review, we will summarize recent progress in the understanding of the genetic basis of hypertriglyceridemia. Recent Findings More than 300 genetic loci have been identified for association with triglyceride levels in large genome-wide association studies. Studies combining the loci into polygenic scores have demonstrated that some hypertriglyceridemia phenotypes previously attributed to monogenic inheritance have a polygenic basis. The new genetic discoveries have opened avenues for the development of more effective triglyceride-lowering treatments and raised interest towards genetic screening and tailored treatments against hypertriglyceridemia. Summary The discovery of multiple genetic loci associated with elevated triglyceride levels has led to improved understanding of the genetic basis of hypertriglyceridemia and opened new translational opportunities.

scholarly journals P5821Ischemic versus dilated cardiomyopathy - differences in clinical characteristics and prognosis depending on heart failure etiology

2017 ◽  
Vol 38 (suppl_1) ◽  
Author(s):  
A. Tyminska ◽  
A. Kaplon-Cieslicka ◽  
P. Balsam ◽  
K. Ozieranski ◽  
A. Wancerz ◽  
...  
Keyword(s):  
Heart Failure ◽  
Dilated Cardiomyopathy ◽  
Clinical Characteristics

scholarly journals Rapid Spread of the SARS-CoV-2 Variant of Concern 202012/01 in Southern Italy (December 2020–March 2021)

2021 ◽  
Vol 18 (9) ◽  
pp. 4766
Author(s):  
Daniela Loconsole ◽  
Francesca Centrone ◽  
Caterina Morcavallo ◽  
Silvia Campanella ◽  
Anna Sallustio ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Large Scale ◽  
Southern Italy ◽  
Whole Genome ◽  
Third Wave ◽  
Gene Target ◽  
The Third ◽  
Rapid Spread ◽  
Pharmaceutical Interventions ◽  
Over Time

Epidemiological and virological studies have revealed that SARS-CoV-2 variants of concern (VOCs) are emerging globally, including in Europe. The aim of this study was to evaluate the spread of B.1.1.7-lineage SARS-CoV-2 in southern Italy from December 2020–March 2021 through the detection of the S gene target failure (SGTF), which could be considered a robust proxy of VOC B.1.1.7. SGTF was assessed on 3075 samples from week 52/2020 to week 10/2021. A subset of positive samples identified in the Apulia region during the study period was subjected to whole-genome sequencing (WGS). A descriptive and statistical analysis of the demographic and clinical characteristics of cases according to SGTF status was performed. Overall, 20.2% of samples showed SGTF; 155 strains were confirmed as VOC 202012/01 by WGS. The proportion of SGTF-positive samples rapidly increased over time, reaching 69.2% in week 10/2021. SGTF-positive cases were more likely to be symptomatic and to result in hospitalization (p < 0.0001). Despite the implementation of large-scale non-pharmaceutical interventions (NPIs), such as the closure of schools and local lockdowns, a rapid spread of VOC 202012/01 was observed in southern Italy. Strengthened NPIs and rapid vaccine deployment, first among priority groups and then among the general population, are crucial both to contain the spread of VOC 202012/01 and to flatten the curve of the third wave.

Taurine-Deficient Dilated Cardiomyopathy in a Family of Golden Retrievers

2005 ◽  
Vol 41 (5) ◽  
pp. 284-291 ◽  
Author(s):  
Marie C. Bélanger ◽  
Mathieu Ouellet ◽  
Guillaume Queney ◽  
Maxim Moreau
Keyword(s):  
Dilated Cardiomyopathy ◽  
Systolic Function ◽  
Response To Therapy ◽  
Heart Murmur ◽  
Taurine Supplementation ◽  
Canine Dilated Cardiomyopathy ◽  
Fractional Shortening

A reversible taurine-deficient dilated cardiomyopathy occurred in five related golden retrievers. An apical systolic heart murmur was the most common physical abnormality. According to fractional shortening and end-systolic diameter on echocardiography, significant improvements (P&lt;0.005) were recorded within 3 to 6 months of starting taurine supplementation. The dogs regained substantial systolic function, and four were weaned off all cardiac medications except taurine. This response to therapy was unusual, because canine dilated cardiomyopathy is generally progressive and fatal.

scholarly journals Spontaneous aortic rupture during pregnancy

2011 ◽  
Vol 152 (23) ◽  
pp. 929-933 ◽  
Author(s):  
Zita Pánczél ◽  
Levente Sára ◽  
Péter Tóth ◽  
Márta Hubay ◽  
Éva Keller ◽  
...  
Keyword(s):  
Sudden Death ◽  
Aortic Dissection ◽  
Genetic Basis ◽  
Aortic Rupture ◽  
Relevant Literature ◽  
Ascending Aorta ◽  
Multiparous Woman ◽  
Rare Entity ◽  
Third Trimester ◽  
The Third

Aortic dissection is a rare entity. Half of the aortic dissection cases occur during pregnancy in women under the age of 40. The authors report a case of a multiparous woman at the third trimester of her sixth pregnancy, who died from a sudden and intractable cardiovascular shock. Autopsy revealed the dissection of the ascending aorta. The case is interesting, especially because in the pregnant woman’s family it was not the first sudden death during pregnancy. Authors review the relevant literature regarding the symptoms and the genetic basis of this rare but potentially lethal complication of pregnancy. Orv. Hetil., 2011, 152, 929–933.

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