Syndromes with aortic involvement: pictorial review

Zucker, Evan J.

doi:10.21037/cdt.2017.09.14

Cited by 12 publications

(8 citation statements)

References 52 publications

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“…5,6 En 1975 Daniel Alagille describió el síndrome donde además de encontrar hipoplasia ductal hepática, describió que estos pacientes tenían facies anormal, vértebras en forma de mariposa, soplo mesosistólico, retraso en el crecimiento, retraso mental e hipogonadismo, anillo en la córnea posterior y demostró los cambios histológicos que diferencian la afección de otras variedades de enfermedad biliar. 6,7,8 Las alteraciones cardiovasculares son la característica más común del síndrome de Alagille; se observan en más del 90% de los pacientes y es una de las alteraciones mayores en la clasificación del síndrome. 4 Las alteraciones cardiovasculares complejas parecen ser el indicador más significativo de mortalidad temprana, por lo que su diagnóstico temprano es decisivo en los niños con síndrome de Alagille.…”

Section: Antecedentesunclassified

Características de las alteraciones cardiovasculares en niños con síndrome de Alagille

2021

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ANTECEDENTES: El síndrome de Alagille es una enfermedad autosómica recesiva con mutación en los genes JAG 1 Y NOTCH 2, con manifestaciones en diferentes órganos y sistemas; uno de los más afectados es el corazón.OBJETIVO: Describir el tipo de afectación cardiovascular y su evolución en pacientes con síndrome de Alagille.MATERIAL Y MÉTODOS: Estudio observacional, retrospectivo y descriptivo consistente en la revisión de los expedientes de pacientes de 0 a 18 años con síndrome de Alagille atendidos en los últimos 10 años en el Instituto Nacional de Pediatría. Se analizaron la edad, género, peso, criterios diagnósticos de la enfermedad, tipo de cardiopatía, tratamiento de la cardiopatía y pronóstico. Para la edad y género se analizaron medias y proporciones y para las cardiopatías porcentaje de frecuencias.RESULTADOS: Se encontraron 16 pacientes con síndrome de Alagille: 10 de sexo masculino y 6 del femenino. La edad al diagnóstico del síndrome tuvo una media de 21.5 meses y mediana de 13.5 meses. En 14 pacientes el diagnóstico se estableció con biopsia hepática y en 2 con 6 criterios clínicos diagnósticos. Todos cumplieron, por lo menos, con 3 criterios mayores. Los 3 criterios clínicos que coincidieron en los 16 pacientes fueron la colestasis, facies característica y la detención del peso y talla. Once (68%) pacientes cursaron con alteración cardiovascular.CONCLUSIONES: La estenosis de las ramas pulmonares es la alteración cardiovascular más frecuente encontrada en niños con síndrome de Alagille. En pacientes con facies anormal, colestasis, detención del crecimiento y soplo cardiaco debe sospecharse el síndrome de Alagille con alteración cardiovascular. Los pacientes con estenosis periférica de las ramas pulmonares se asociaron con otras lesiones cardiacas.

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Section: Antecedentesunclassified

Características de las alteraciones cardiovasculares en niños con síndrome de Alagille

2021

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“…It is strongly associated with increased aortic friability and fragility leading to vascular complications such as aortic dissections and rupture, at a very young age [76]. Consequently, noninvasive screening modalities (CTA or MRA) are preferred over invasive angiography in this population [32,77]. Surgical intervention is recommended at aortic diameter 4.4 cm [77].…”

Section: Ehlers-danlos Syndromementioning

confidence: 99%

“…Consequently, noninvasive screening modalities (CTA or MRA) are preferred over invasive angiography in this population [32,77]. Surgical intervention is recommended at aortic diameter 4.4 cm [77]. In addition, the guidelines recommend excision of the sinuses in combination with a modified David reimplantation operation in these patients with dilatation of the aortic root and sinuses of Valsalva where possible [32].…”

Section: Ehlers-danlos Syndromementioning

confidence: 99%

Disorders of the Aorta and Aortic Valve in Connective Tissue Diseases

et al. 2020

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Purpose of Review The incidence of aortic valve disease in inherited connective tissue disorders is well documented; however, recent studies have only begun to unravel the pathology behind this association. In this review, we aim to describe the etiology, clinical manifestations, management, and prognosis of aortic and aortic valvular disorders that co-exist in a variety of connective tissue diseases. An extensive literature review was performed in PubMed. Articles from 2008 to 2018 were included for review. Predetermined search terms used in PubMed include "aortic manifestation of connective tissue diseases" and "aortic valve disorders in rheumatologic disease." Recent Findings Manifestations of aortic valve disease in the context of connective tissue disorders include valvular stenosis, regurgitation, and/or thoracic aortic aneurysms. Both inherited and inflammatory connective tissue disorders contribute to aortic valve damage with increased susceptibility associated with specific gene variants. Summary Anti-inflammatory and immunosuppressive therapies have demonstrated beneficial results in Marfan's syndrome, Behcet disease, rheumatoid arthritis, ankylosing spondylitis, and systemic sclerosis, often leading to remission. Yet, such therapy is less effective in other disorders compared to alternative treatments such as surgical intervention. Additionally, regular echocardiographic studies should be recommended to those suffering from these disorders, especially those at higher risk for cardiovascular involvement. Given the rates of relapse with immunosuppressants, even following aortic valve replacement, further studies are needed to determine if certain dosing and/or combinations of immunosuppressants could be given to those diagnosed with connective tissue diseases to prevent progression of aortic valve involvement.

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“…CVD is one of the most common symptoms in patients with WS. Congenital heart defects affect 80% of patients with WS [ 11 , 12 ]. Supravalvular aortic stenosis (SVAS) is the most common type of CVD in patients with WS, accounting for approximately 80% of all cases.…”

Section: Introductionmentioning

confidence: 99%

Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan

Lee

Lin

Chen

et al. 2022

JPM

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Williams syndrome (WS) is a rare genetic disorder caused by the microdeletion of chromosome 7q11.23. Cardiovascular defects (CVDs) are the leading causes of morbidity and mortality in patients with WS. The most common CVD in patients with WS is supravalvular aortic stenosis (SVAS), which recovers spontaneously similar to branch pulmonary stenosis (PS). Recently, conventional beliefs, such as SVAS improving rather than worsening in WS, have been challenged. This study thoroughly reviews the medical records of 30 patients with a molecular diagnosis of WS. We followed up these patients at Taipei MacKay Memorial Hospital from January 1999 to December 2021. The long-term outcomes of cardiovascular lesions as well as the change in peak pressure gradient in obstructive cardiovascular lesions over time were studied. Among these 30 patients, the most common cardiovascular lesion was SVAS (50.0%), followed by branch PS (36.7%). During the follow-up period, severe SVAS was aggravated (p = 0.021). The peak pressure gradient decreased from 38.4 to 25.3 mmHg (p = 0.001) in patients with branch PS. Among patients with WS, those with severe SVAS deteriorated over time, whereas those with branch PS improved on their own. In patients with WS who presented with branch PS, no disease-specific intervention was needed.

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Syndromes with aortic involvement: pictorial review

Cited by 12 publications

References 52 publications

Características de las alteraciones cardiovasculares en niños con síndrome de Alagille

Características de las alteraciones cardiovasculares en niños con síndrome de Alagille

Disorders of the Aorta and Aortic Valve in Connective Tissue Diseases

Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan

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