Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review

Simpson, Siobhan; Rutland, Paul; Rutland, Catrin S.

doi:10.3390/vetsci4010019

Cited by 18 publications

(29 citation statements)

References 225 publications

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“…To date no large scale study has investigated whether the disease causing mutations seen in humans and other mammals are also present in birds. In total the myosins, cardiac myosin binding protein C and troponin gene account for over 90% of the known causative mutations in human hypertrophic cardiomyopathy [94], for example. Tropomyosin I, which is associated with both actin and troponin T has also been shown to present with cardiomyopathy associated mutations in humans and more recently abnormal atrial septation, ventricular trabeculae and looping in genetic knockdown developing chickens [95].…”

Section: Cardiomyopathiesmentioning

confidence: 99%

Avian Cardiovascular Disease Characteristics, Causes and Genomics

Kubale¹,

Merry²,

Miller³

et al. 2018

Application of Genetics and Genomics in Poultry Science

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Cardiovascular disease is common in avian species and increasing commercial economic losses and demand for healthcare in the household/smallholding veterinary sector has resulted in increased research into these disorders. This in turn has highlighted the importance of breeding, genetic testing and possibilities for future prognostic and diagnostic testing. Research into avian cardiovascular genetics has rapidly accelerated. Previously much work was undertaken in mammals with information extrapolated and transferred to birds. Birds have also been used to model cardiovascular disease and therefore knowledge has become enriched due to this endeavour. Increasingly, the avian genome is being analysed in its own right. This work is assisted by the growing number of avian genomes being published. In 2015, Nature published news on the 'Bird 10K' project, which aims to sequence 10,500 extant bird species. By 2018, the Avian Genomes Consortium had published the sequences of 45 species/34 orders. This review investigates a range of avian cardiovascular disorders in order to highlight their pathologies, epidemiology and genetics in addition to avian models of heart disease. With the availability of more reference genomes, increases in the number and magnitude of avian studies and more advanced technologies, the genetics behind avian cardiovascular disorders is being unravelled.

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Section: Cardiomyopathiesmentioning

confidence: 99%

Avian Cardiovascular Disease Characteristics, Causes and Genomics

Kubale¹,

Merry²,

Miller³

et al. 2018

Application of Genetics and Genomics in Poultry Science

View full text Add to dashboard Cite

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“…(2) which mutations in those genes could be associated with getting cardiomyopathy; and (3) does having two or more of these mutations affect whether a dog might get cardiomyopathy? Some dogs have very high levels of cardiomyopathy-up to 50% in some breeds [3,4]. We already know that mutations in over 50 different places on the chromosomes can cause human dilated cardiomyopathy, but there are more mutations to find in people and very few studies have looked at mutations in dogs.…”

Section: Searching For Mutations In Dogs With Cardiomyopathymentioning

confidence: 99%

Mending a Broken Heart—The Genetics of Heart Disease

Clark¹,

Alibhai²

2018

Front. Young Minds

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Heart disease is a major cause of health problems worldwide. There are many different types of heart disease, but one that is fairly common and can have lots of negative side effects is called cardiomyopathy. We know that humans and many mammals, including dogs, get cardiomyopathy. In dilated cardiomyopathy the heart changes shape and often the electrical signals within the heart change. Because of these changes, the heart is not able to pump blood around the body very well, which means that oxygen and nutrients are not delivered to the body at the optimal levels. This can affect day-today life, and it can also cause early death. Understanding cardiomyopathy and finding the mutations in genes that cause it are essential, as this information can help us to diagnose, treat, and prevent this heart disorder. We can try to mend the broken hearts that do not work properly. In dogs with cardiomyopathy, we have discovered genetic mutations and found links between these changes in the dogs' hearts. THE HEART The heart pumps blood to the lungs where oxygen goes into the blood, it is then pumped back to the heart and then this blood gets pumped around REVIEWED BY:

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“…Dilated cardiomyopathy is a common disease in large breed dogs [1,2] that are characterized by progressive left-sided or bilateral heart chamber dilatation and a decrease in systolic function [3,4]. As a general rule, dilated cardiomyopathy in dogs progresses rapidly, and the prognosis for the condition is unfavorable [5-7]. However, there is considerable breed variability in the rate of progression of congestive heart failure (CHF) in affected dogs [1,7].…”

Section: Introductionmentioning

confidence: 99%

“…In addition to the toxic effects of the products of aseptic inflammation, stasis and hypoxia of the stomach and intestines lead to the development of malabsorption syndrome, impaired tissue metabolism, and reduced liver detoxification. All of these then lead to the development of endogenous intoxication and secondary damage to the other internal organs, which is irreversible [7,15-17].…”

Section: Introductionmentioning

confidence: 99%

Immune-inflammatory concept of the pathogenesis of chronic heart failure in dogs with dilated cardiomyopathy

et al. 2019

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Background: Dilated cardiomyopathy is common in dogs. This form of cardiomyopathy is the main cause of death due to heart disease in dogs. Death can occur suddenly in clinically normal animals as a result of the progression of congestive heart failure (CHF). The pathogenesis of heart failure syndrome in dogs with dilated cardiomyopathy involves activation of the neurohumoral system and immune-mediated inflammation, which leads to further progression of the condition. Heart failure syndrome in dogs with dilated cardiomyopathy is caused by the progressive loss of cardiomyocytes, apoptosis, remodeling of the left ventricle, systolic and diastolic dysfunction, arrhythmias, reduced cerebral blood flow, the involvement of other key internal organs, and intestinal dysbiosis. Aim: This study aimed to determine the immunological and inflammatory mechanisms surrounding the development of heart failure syndrome in dogs with dilated cardiomyopathy. Materials and Methods: The subjects of this study were dogs with a dilated form of cardiomyopathy (n=159), complicated by various functional classes of heart failure syndrome. Evaluation of myocardial remodeling, systolic function, and systemic hemodynamics was performed using EMP-860 Vet and PU-2200V ultrasound scanners according to the standard technique. Electrocardiography was performed with all dogs in right lateral recumbency using the EK1T-04 Midas electrocardiograph (50 mm/s speed and 1 mV gain = 1 cm). Results: In some affected animals, especially in cases of compensated dilated cardiomyopathy, leukocytosis was noted. In patients with dilated cardiomyopathy complicated by heart failure syndrome of various functional classes, the number of neutrophils was significantly increased, and the number of lymphocytes was decreased by 1.9-2.1 times when compared with those in clinically normal animals. In dogs with dilated cardiomyopathy, neutrophilic leukocytosis develops with a simple regenerative shift to the left. The results of immunological studies indicate that dogs with dilated cardiomyopathy develop T lymphocytopenia as compared with clinically normal animals. Conclusion: The central component of heart failure syndrome in dogs with dilated cardiomyopathy is the activation of the neurohumoral system and immune-mediated inflammation. The development of CHF in dogs with dilated cardiomyopathy is caused by the progressive loss of cardiomyocytes, apoptosis, remodeling of the left ventricle, systolic and diastolic dysfunction, arrhythmias, reduced cerebral blood flow, involvement of other key internal organs, and intestinal dysbiosis.

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Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review

Cited by 18 publications

References 225 publications

Avian Cardiovascular Disease Characteristics, Causes and Genomics

Avian Cardiovascular Disease Characteristics, Causes and Genomics

Mending a Broken Heart—The Genetics of Heart Disease

Immune-inflammatory concept of the pathogenesis of chronic heart failure in dogs with dilated cardiomyopathy

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