Authors
Advisor(s)
Abstract(s)
A degenerescência mixomatosa da válvula mitral (DMVD) é a doença cardíaca adquirida mais
prevalente em cães e corresponde a aproximadamente 75% dos casos de insuficiência cardíaca
congestiva (ICC). Embora a causa da DMVD não seja inteiramente conhecida, existe um componente
hereditário e ela ocorre principalmente em raças predispostas como o Cavalier King Charles Spaniel
(CKCS). Esta raça é conhecida por ter uma incidência maior da doença e podem ser afetadas em idade
mais precoce. A DMVD progride geralmente com o aparecimento de um sopro sistólico em foco
mitral (decorrente da regurgitação) muito antes dos sinais clínicos de ICC, em função da
degenerescência progressiva e lenta. Ao longo das últimas décadas, vários conhecimentos sobre a
doença, incluindo a classificação da ICC, meios de diagnósticos mais precisos e tratamentos de
prevenção da descompensação permitiram aumentar a sobrevida destes pacientes. Muitos estudos
têm sido realizados sobre cães da raça CKCS e apesar de sua popularidade e recente criação,
apresenta uma homogeneidade genética que aumenta a suscetibilidade a problemas de saúde. O
objetivo desta tese é compilar e analisar os principais artigos científicos sobre DMVD nesta raça,
contribuindo para um melhor entendimento e maneio das causas genéticas da doença. Estudos
genómicos, transcriptómicos e proteómicos indicam uma complexa interação entre a domesticação
canina, a formação de raças específicas e o surgimento de mutações associadas a doenças. A
investigação em biologia molecular avançada tem o potencial de aprimorar nossa compreensão da
fisiopatologia da DMVD, identificando variantes genéticas, biomarcadores e vias patogénicas cruciais.
O desenvolvimento de estudos científicos focados na pesquisa genética, na compreensão e
prevenção da DMVD, bem como na investigação de possíveis tratamentos, são passos essenciais para
promover a saúde e o bem-estar desta raça.
Degenerative Mitral Valve Disease (DMVD) is the most prevalent acquired heart disease in dogs, accounting for approximately 75% of congestive heart failure cases. Although the cause of DMVD is not entirely known, there is a hereditary component, and it mainly occurs in predisposed breeds such as the Cavalier King Charles Spaniel (CKCS). This breed is known to have a higher incidence of the disease and may be affected at an earlier age. DMVD typically progresses with the onset of a systolic murmur at the mitral focus (resulting from regurgitation) before the clinical signs of congestive heart failure appear, due to its slow and progressive degeneration. Over the past few decades, various insights into the disease, including the classification of congestive heart failure, more accurate diagnostic methods, and preventive treatments for decompensation, have increased the survival rates of these patients. Many studies have been conducted on CKCS dogs, and despite its popularity and recent breeding, this breed exhibits genetic homogeneity that increases susceptibility to health problems. The aim of this thesis is to compile and analyze the main scientific articles on DMVD in this breed, contributing to a better understanding and management of the disease's genetic causes. Genomic, transcriptomic and proteomic studies indicate a complex interaction between canine domestication, the formation of specific breeds, and the emergence of mutations associated with diseases. Advanced molecular biology research has the potential to enhance our understanding of DMVD pathophysiology by identifying genetic variants, biomarkers, and crucial pathogenic pathways. The development of scientific studies focused on genetic research, understanding and preventing DMVD, as well as investigating potential treatments, are essential steps to promote the health and well-being of this breed.
Degenerative Mitral Valve Disease (DMVD) is the most prevalent acquired heart disease in dogs, accounting for approximately 75% of congestive heart failure cases. Although the cause of DMVD is not entirely known, there is a hereditary component, and it mainly occurs in predisposed breeds such as the Cavalier King Charles Spaniel (CKCS). This breed is known to have a higher incidence of the disease and may be affected at an earlier age. DMVD typically progresses with the onset of a systolic murmur at the mitral focus (resulting from regurgitation) before the clinical signs of congestive heart failure appear, due to its slow and progressive degeneration. Over the past few decades, various insights into the disease, including the classification of congestive heart failure, more accurate diagnostic methods, and preventive treatments for decompensation, have increased the survival rates of these patients. Many studies have been conducted on CKCS dogs, and despite its popularity and recent breeding, this breed exhibits genetic homogeneity that increases susceptibility to health problems. The aim of this thesis is to compile and analyze the main scientific articles on DMVD in this breed, contributing to a better understanding and management of the disease's genetic causes. Genomic, transcriptomic and proteomic studies indicate a complex interaction between canine domestication, the formation of specific breeds, and the emergence of mutations associated with diseases. Advanced molecular biology research has the potential to enhance our understanding of DMVD pathophysiology by identifying genetic variants, biomarkers, and crucial pathogenic pathways. The development of scientific studies focused on genetic research, understanding and preventing DMVD, as well as investigating potential treatments, are essential steps to promote the health and well-being of this breed.
Description
Keywords
Degenerescência Mixomatosa Da Válvula Mitral Insuficiência Cardíaca Congestiva Cão Cavalier King Charles Spaniel Regurgitação Mitral Genomas Mitral Valve Myxomatous Degeneration Congestive Heart Failure Dog Mitral Regurgitation Genomes