Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway

Bathen, Trine; Krohg‐Sørensen, Kirsten; Lidal, Ingeborg Beate

doi:10.1002/ajmg.a.61827

Cited by 9 publications

(7 citation statements)

References 39 publications

(83 reference statements)

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“…Pacientes com síndrome de Marfan (MFS), por exemplo, registraram um aumento >25% na expectativa de vida, prevista desde 1972, com o uso dessas inovações. Mesmo diante dessa evolução, a doença aórtica continua sendo um grande desafio da medicina e pesquisas estão em andamento para determinar quais tratamentos e procedimentos são ideais 16 .…”

Section: Aneurisma Da Aorta Torácica (Aat)unclassified

Técnicas Diagnósticas E Métodos De Tratamento Das Síndromes Relacionadas À Aorta

Horevicht,

Oliveira,

Berno

et al. 2023

Cardiologia Em Foco: Prevenção, Diagnóstico E Tratamentos Atuais

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Resumo Uma das maiores e mais importantes artérias do corpo humano, a aorta é o vaso sanguíneo responsável pelo transporte do sangue entregue do ventrículo esquerdo para os órgãos finais a cada ciclo cardíacoo que corresponde, em uma vida média, a 200 milhões de litros de sangue conduzidos. Pode ser afetada por vários fatores agudos, incluindo uso de cocaína, levantamento de peso e trauma, e condições crônicas adquiridas e/ou genéticas, como hipertensão arterial sistêmica e feocromocitoma, que promovem o aumento do estresse da parede aórtica. A camada média da aorta também pode estar sujeita a anormalidades, a exemplo de síndrome de Marfan, valva aórtica bicúspide, vasculite inflamatória, aterosclerose e infecções. Apesar dos avanços importantes nas intervenções diagnósticas e terapêuticas, os dados derivados de registros e estudos de base populacional destacam que a carga de doenças da aorta ainda permanece alta. Por isso, desenvolver e implementar estratégias preventivas, por exemplo, estilo de vida saudável, alterações nos fatores de risco cardiovascular e programas educacionais e de triagem em nível individual e comunitário são consideradas ações preventivas de extrema importância, o que torna o conhecimento sobre as doenças que comprometem a aorta cada vez mais necessário.Palavras-chave: Aorta. Síndromes aórticas agudas. Aneurisma da aorta. Dissecção da aorta. Síndrome de Marfan.

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Section: Aneurisma Da Aorta Torácica (Aat)unclassified

Técnicas Diagnósticas E Métodos De Tratamento Das Síndromes Relacionadas À Aorta

Horevicht,

Oliveira,

Berno

et al. 2023

Cardiologia Em Foco: Prevenção, Diagnóstico E Tratamentos Atuais

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“…7 A MDT approach has been observed to increase the long-term benefit to patients and enhance patient satisfaction in an adult neurogenetic clinic 2 as well as other genetic MDT clinics. [16][17][18] St Vincent's neurogenomics MDT clinic provides diagnostic NGS to adult patients with suspected neurogenetic disorders. Within the highly integrated MDT clinic, patients are seen jointly by a neurologist, clinical geneticist and genetic counsellor to establish a clinical diagnosis.…”

Section: Introductionmentioning

confidence: 99%

“…While the falling cost of testing has improved access to molecular testing, the interpretation of the clinical significance of the results can be complex, requiring specialist expertise 7 . A MDT approach has been observed to increase the long‐term benefit to patients and enhance patient satisfaction in an adult neurogenetic clinic 2 as well as other genetic MDT clinics 16–18 …”

Section: Introductionmentioning

confidence: 99%

Informing a value care model: lessons from an integrated adult neurogenomics clinic

McLean

Tchan

Devery

et al. 2023

Internal Medicine Journal

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BackgroundAdvances in genomics provide improved opportunities for diagnosis of complex neurogenetic disorders, yet the optimal approach to translate these benefits to the outpatient clinic is unclear.AimsWe retrospectively reviewed referral indications and outcomes of an integrated multidisciplinary team (MDT) clinic pathway for adults with suspected neurogenetic disorders. The associated cost implications were estimated.MethodsConsecutive patients who attended the neurogenomics clinic from January 2017 to April 2020 were included. The clinic comprised neurologists, clinical geneticists and genetic counsellors, who assessed each patient concurrently.ResultsNinety‐nine new patients were referred spanning 45 different clinical diagnoses. Following MDT clinical assessment, 23% (23/99) of referral diagnoses were revised prior to molecular testing. Eighty‐one patients (82%) underwent genetic testing, including 43 exome‐based panels, 15 whole‐genome sequencing, 14 single gene tests, 27 repeat‐primed polymerase chain reaction testing and two chromosomal microarrays. Overall, 33/99 patients (33%) received a diagnosis, either a molecular diagnosis (n = 24, of which 22 were diagnostic and two were predictive) or a clinical diagnosis (n = 9). Of the clinical diagnosis cohort, five patients received a diagnosis without molecular testing and four patients whose negative testing (one diagnostic and three predictive) allowed exclusion of genetic differentials and, hence, confirmation of clinical diagnoses. The diagnostic rate following MDT and diagnostic testing was 30% (28/94), excluding the five predictive testing cases. MDT assessment aligned with eventual molecular diagnoses in 96% of cases. The estimated average costs were AU$1386 per patient undergoing MDT assessment and AU$4159 per diagnosis achieved.ConclusionsWe present an integrated multidisciplinary neurogenomics clinic pathway providing a diagnostic yield of 33% (30% excluding predictive testing cases), with costing implications. The relatively high diagnostic yield may be attributed to multidisciplinary input integrating accurate phenotyping of complex disorders and interpretation of genomic findings.

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“…1 TAD clinics (TADC) are noted in many academic and pediatric medical centers. 10. Bethesda North Hospital is a 362-bed suburban community hospital in southwest Ohio performing 600-700 adult cardiac surgical procedures annually.…”

Section: Introductionmentioning

confidence: 99%

“…1 Thoracic aortic dissection clinics (TADC) are noted in many academic and pediatric medical centers. 10 Bethesda North Hospital is a 362-bed suburban community hospital in southwest Ohio performing 600 to 700 adult cardiac surgical procedures annually. A structured TADC was established in July 2015 utilizing current guidelines as the basis for patient evaluation, management, and education.…”

Section: Introductionmentioning

confidence: 99%

Ascending Aortic Aneurysms <4.5 cm for Nonsyndromic Adults: Very Slow Growth and Low Risk

2022

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Background Current practice guidelines for patients with thoracic aortic aneurysms (TAAs) recommend 6-12-month intervals for surveillance imaging based on growth estimates of 0.10 - 0.42 cm/year gleaned from limited studies which included patients with thoraco-abdominal aneurysms, known acute or chronic aortic dissection, and other syndromic and non-syndromic high risk conditions (TAA-HRC) associated with high-risk for adverse aortic events and death. Objective: Our objective was to determine TAA growth and event-free survival rates for patients with aortic root or mid-ascending diameters <5.0 cm, and without thoraco-abdominal aneurysms, acute or chronic aortic dissection or higher risk syndromic or non-syndromic conditions (TAA-NoHRC). Materials and Methods A retrospective review of patient records and imaging studies was done. Aortic diameter measurements were all performed by the lead author. Results For 197 TAA-NoHRC found incidentally during chest imaging, with 616 chest imaging studies over 868 patient-years, the mean aortic root and mid-ascending aortic growth rates were 0.018 and 0.022 cm/year respectively. Growth rate was significantly lower for aneurysms initially measured at <4.5 cm versus > 4.5 cm at both the aortic root (0.011 vs 0.068 cm/year) and mid-ascending aorta (0.013 vs 0.043 cm/year). Survival free from adverse aortic events (dissection, rupture, surgery) or death at 5 years was 99.5%. Conclusions Adult TAA-NoHRC patients with initial aortic root and/or ascending aortic diameters <5.0 cm, and particularly <4.5 cm, have very low aortic growth and adverse event rates which may permit longer intervals between surveillance imaging, up to 3-5 years, after initial (6-12 month) stability is documented.

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Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway

Cited by 9 publications

References 39 publications

Técnicas Diagnósticas E Métodos De Tratamento Das Síndromes Relacionadas À Aorta

Técnicas Diagnósticas E Métodos De Tratamento Das Síndromes Relacionadas À Aorta

Informing a value care model: lessons from an integrated adult neurogenomics clinic

Ascending Aortic Aneurysms <4.5 cm for Nonsyndromic Adults: Very Slow Growth and Low Risk

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