RESUMO
The quadricuspid aortic valve is a rare congenital anomaly, usually presenting as an isolated malformation causing aortic regurgitation in the faith or sixth decades of life. The first reported cases were found at autopsy or became evident by surgical findings. However, the emergence of new imaging modalities currently allows an earlier diagnosis, including in asymptomatic patients. Hereby the case of a 60-year-old woman with quadricuspid aortic valve diagnosed by echocardiography is presented. A brief discussion of the disease is included.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Valva Aórtica/anormalidades , Insuficiência da Valva Aórtica/congênito , Insuficiência da Valva Aórtica/diagnóstico por imagem , Valva Aórtica/fisiopatologia , Valva Aórtica/diagnóstico por imagem , Ecocardiografia , Cardiopatias Congênitas/complicaçõesRESUMO
BACKGROUND: Both intense endurance training and valvular regurgitation place a volume load on the right and left ventricles, potentially leading to dilation, but their effects in combination are not well-known. PURPOSE: The purpose of this case series is to describe the combined volume load of intense endurance athletic training and regurgitant valvular disease as well as the challenging assessment of each component's cardiovascular effect. METHODS: In this article, the clinical course of three elite endurance athletes with congenital valvular disease were reviewed. RESULTS: A swimmer with aortic regurgitation, a cyclist with aortic regurgitation, and a cyclist with pulmonary regurgitation were found to have severe dilation of the associated ventricles despite continuing to train at an elite level without symptoms. CONCLUSIONS: Because of the cumulative effects of endurance training and valvular regurgitation, each athlete manifested ventricular dilation out of proportion to their valvular disease and symptoms. Although the effects of congenital valvular disease and athletic remodeling on ventricular dilation have been thoroughly studied individually, their cumulative effect is not well understood. This complicates the assessment of athletes with valvular regurgitation and underscores the need for athlete-specific recommendations for valve replacement.
Assuntos
Insuficiência da Valva Aórtica/congênito , Insuficiência da Valva Aórtica/fisiopatologia , Educação Física e Treinamento , Resistência Física/fisiologia , Insuficiência da Valva Pulmonar/congênito , Insuficiência da Valva Pulmonar/fisiopatologia , Adolescente , Adulto , Ciclismo/fisiologia , Humanos , Masculino , Volume Sistólico , Natação/fisiologia , Adulto JovemRESUMO
Bicuspid aortic valve (BAV) is associated with annuloaortic ectasia, dissection and ascending aortic aneurysm. The high incidence of this congenital malformation and aortic disease suggests a close correlation between the two phenomena. Abnormalities in different phases of cell migration of the neural crest might be responsible for the occurrence of abnormalities in the aortic valve, media layer of the ascending aorta and vessels of the aortic arch. Previous studies have shown that patients with normal BAV or slight dysfunction may present with dilation of the aortic root. The hemodynamic changes caused by BAV without stenosis or insufficiency seem to be an insufficient explanation for these findings. Several mechanisms have been proposed to explain the molecular and hystological aspects of this disease. We found a reduced fibrillin-1 content in both ascending aorta and pulmonary trunk as a possible cause. Histologically, the ascending aorta can present cystic medial necrosis and elastic fragmentation, similar to Marfan's disease. Some authors concluded that many patients, mainly those with aortic regurgitation, should have the aortic valve and the ascending aorta replaced at the same procedure, even if a mild dilatation (45 mm) is present in patients with BAV if life expectancy is anticipated to be greater than 10 years to prevent further aneurysms or ruptures.
Assuntos
Aorta/cirurgia , Insuficiência da Valva Aórtica/cirurgia , Valva Aórtica/anormalidades , Valva Aórtica/cirurgia , Aorta/patologia , Aneurisma Aórtico/prevenção & controle , Valva Aórtica/embriologia , Insuficiência da Valva Aórtica/congênito , Insuficiência da Valva Aórtica/embriologia , HumanosRESUMO
A valva aórtica bicúspide (VAB) está associada à ectasia ânulo-aórtica, aneurisma e dissecção da aorta ascendente. A alta incidência desta malformação congênita e doença da aorta sugere íntima relação entre os fenômenos. Anormalidades ocorrendo em diferentes fases da migração das células da crista neural podem ser responsáveis pela ocorrência em anormalidades na valva aórtica, na camada média da aorta ascendente e nos vasos do arco aórtico. Estudos prévios revelam que mesmo indivíduos com VAB normal ou com disfunção leve podem apresentar dilatação da raiz aórtica. Os autores acreditam que somente as alterações hemodinâmicas produzidas por uma VAB sem estenose ou insuficiência parecem ser insuficientes para as graves complicações vasculares observadas nos portadores de VAB. Vários mecanismos têm sido propostos para explicar os achados moleculares e histológicos desta doença. Encontramos a redução da fibrilina-1 na aorta ascendente e artéria pulmonar como possível causa. Histologicamente, a aorta ascendente pode apresentar necrose cística da média e fragmentação elástica, semelhante àquela encontrada em portadores de síndrome de Marfan. Vários autores atualmente recomendam que em se operando um paciente com VAB, especialmente aqueles com insuficiência aórtica, mesmo na presença de uma discreta dilatação (45 mm) deve-se substituir a valva aórtica e a aorta ascendente concomitantemente quando a expectativa de vida exceder 10 anos, para se prevenir futuros aneurismas ou rupturas.
Bicuspid aortic valve (BAV) is associated with annuloaortic ectasia, dissection and ascending aortic aneurysm. The high incidence of this congenital malformation and aortic disease suggests a close correlation between the two phenomena. Abnormalities in different phases of cell migration of the neural crest might be responsible for the occurrence of abnormalities in the aortic valve, media layer of the ascending aorta and vessels of the aortic arch. Previous studies have shown that patients with normal BAV or slight dysfunction may present with dilation of the aortic root. The hemodynamic changes caused by BAV without stenosis or insufficiency seem to be an insufficient explanation for these findings. Several mechanisms have been proposed to explain the molecular and hystological aspects of this disease. We found a reduced fibrillin-1 content in both ascending aorta and pulmonary trunk as a possible cause. Histologically, the ascending aorta can present cystic medial necrosis and elastic fragmentation, similar to Marfan's disease. Some authors concluded that many patients, mainly those with aortic regurgitation, should have the aortic valve and the ascending aorta replaced at the same procedure, even if a mild dilatation (45 mm) is present in patients with BAV if life expectancy is anticipated to be greater than 10 years to prevent further aneurysms or ruptures.
Assuntos
Humanos , Aorta/cirurgia , Insuficiência da Valva Aórtica/cirurgia , Valva Aórtica/anormalidades , Valva Aórtica/cirurgia , Aorta/patologia , Aneurisma Aórtico/prevenção & controle , Insuficiência da Valva Aórtica/congênito , Insuficiência da Valva Aórtica/embriologia , Valva Aórtica/embriologiaRESUMO
Congenital aortic regurgitation is an extremely rare cardiac lesion. This is a case report of an infant with a severe degree of valve regurgitation due to absence of the noncoronary aortic cusp. We show the echocardiographic, angiographic, and surgical aspects of the case, emphasizing the importance of a precise anatomical diagnosis and the problems of early valve replacement.