New American guidance on the diagnosis and management of aortic disease prioritizes highly personalized care – a fact that could prove “challenging” in many settings, cardiologists said Monday as the guideline was released.
The 2022 American College of Cardiology/American Heart Association Guideline for the Diagnosis and Management of Aortic Disease (ACC/AHA Aortic Disease Guideline) – published online ahead of the Dec 13. edition of the Journal of the American College of Cardiology – covers topics related to the abdominal and thoracic aorta previously covered in three other guidelines on the management of thoracic aortic disease, lower extremity peripheral artery disease, and aortic dilatation in patients with bicuspid aortic valves.
Speaking on behalf of the ACC Solution Set Oversight Committee in a “guideline-at-a-glance” document, authors led by Northshore Medical Group’s John P. Erwin III, MD, said the “practice-changing recommendations” are part of a larger ACC dissemination strategy to help implement key changes in diagnostic and therapeutic practice in the aortic disease space.
The guidelines follow an “explosion of discovery in the genetic underpinnings of disease, advanced imaging techniques, and advanced intervention and surgical techniques” over the last 2 decades, editorialists Marc P. Bonaca, MD, from the Colorado School of Medicine, and Jeffrey W. Olin, DO, from Mount Sinai Health, added.
Shift toward personalization
The 2022 recommendations mark a “shift in the way aortic disease is characterized: from an often-routine finding with occasionally complex syndromic patients, to one where each patient should be characterized in great detail and where care must be personalized in the context of family history, genetics, comorbidities, personal priorities, and expertise and experience of the practitioners caring for the patient,” the editorialists added.
This includes a new 5-cm threshold in selected patients for surgical intervention for sporadic aortic root and ascending aortic aneurysms (lowered from 5.5 cm) in centers with multidisciplinary aortic teams and experienced surgeons, according to Erwin and colleagues. Thresholds are even lower in specific scenarios among patients with heritable thoracic aortic aneurysms.
And whereas previously, in the 2010 guidelines, surgical thresholds were adjusted only by patient sex, the new guidelines recommend adjustment also by genetics and height (maximal cross-sectional aortic area/height ratio ≥10 cm2 /m, aortic size index ≥3.08 cm/m2, or aortic height index ≥3.21 cm/m).
The shift toward personalization also includes a greater emphasis on family screening. Whereas in 2010, it was recommended that only relatives with genetic mutations should undergo aortic imaging – with referral to a geneticist only if one or more first-degree relatives of a patient were found to have aortic disease – the new dossier warrants screening via aortic imaging for relatives, “even if a disease-causing variant is not identified with genetic testing.”
“In patients with an established pathogenic or likely pathogenic variant in a gene predisposing to [heritable thoracic aortic disease], it is recommended that genetic counseling be provided (COR 1),” Erwin and team added. “Genetic testing to identify variants is recommended in the proband. Cascade testing for family members would then be indicated if the mutation is present in the proband. Testing panels include FBN1, LOX, COL3A1, TGFBR1, TGFBR2, SMAD3, TGFB2, ACTA2, MYH11, MYLK, and PRKG1.”
Meanwhile, the guidance is “much more specific” on recommended approaches for image acquisition, the measurement and reporting of relevant aortic dimensions and the frequency of surveillance before and after intervention. This includes surveillance by computed tomography (CT), magnetic resonance imaging (MRI) and echocardiographic imaging such as transesophageal echocardiography (TTE).
The guideline stresses, for instance, that: “Measuring from sinus to sinus and from inner-edge to inner-edge on CT and MRI has shown good correlation with TTE for measurements of the root (leading-edge to leading-edge at end-diastole) and ascending segments,” and that, “The use of [electrogcardiogram]-gated images decreases motion artifact and improves edge depiction in aortic root imaging, with diminished measurement variability.”
It adds that, when performing echocardiography in patients with known or suspected aortic disease, it is reasonable to measure the aorta from leading-edge to leading-edge, perpendicular to the axis of blood flow.
“Using inner-edge to inner-edge measurements may also be considered, particularly on short-axis imaging.”
Personalization ‘a challenge’ in many care settings
In the accompanying editorial, however, Bonaca and Olin stressed that: “Such an intensive approach may prove to be challenging in many care settings.”
They added that the guidance states that even patients with “the most catastrophic and time-sensitive presenting syndrome, the type A aortic dissection, ‘if clinically stable, should be considered for transfer to a high-volume aortic center to improve survival.’”
While the recommendation is “understandable” in the context of the detailed assessments and recommendations for the acute and chronic management of such a patient in addition to other personalized approaches such as risk stratification, genetic testing and implementations for family members, “the clinician must be supported by imaging groups who can meet the imaging and reporting standards as outlined in this guideline, genetic testing and genetic resource counseling, and surgeons and other interventionalists with experience and expertise in managing these complex syndromes,” the editorialists added.
“Knowledge of who to intervene on and timing of when to intervene are imperative to achieve the best results possible.”
In other words, “if at all possible,” the care of patients with aortic disease must move to specialized centers where all of the necessary expertise exists within one place, the editorialists added.
“Such a reality, however, is not possible for many patients who do not have access to such a center.”
Bonaca and Olin went on to suggest that, where access to a center of excellence is missing, one potential model could be to think about multidisciplinary aortic care on a regional level, “where expertise from specialty centers delivered through virtual mechanisms could support local centers in a structured and collaborative fashion with procedural referrals to appropriate centers when required.”
“This construct, if successful, may lead to applying this concept to other nonvascular diseases,” they continued. “Such structures, on a regional or national level, may even offer the opportunity to develop specific practice approaches or algorithms in areas where gaps remain in the guidelines.”
Gaps in guidance
Despite remarking on their “extraordinary detail and complexity,” the editorialists went on to highlight several gaps in the guidelines including over approaches to surveillance, “specifically when less imaging-intensive approaches to follow-up may be safe for specific patients.”
“As a general rule, patients undergoing endovascular therapy for aneurysms require more frequent surveillance imaging (to detect endoleaks and expansion of the aneurysm sac) compared with those who had surgical treatment,” said Bonaca and Olin.
“One unanswered question is when and how often to image family members of afflicted individuals in the context of their family history and findings.”
Erwin JP III, Cibotti-Sun M, Elma M. 2022 Aortic Disease Guideline-at-a-Glance. J Am Coll Cardiol 2022;80:2348–2352.
Bonaca MP, Olin JW. ACC/AHA Aortic Disease Guidelines: What Was Simple Is Now Complex—Moving to Multidisciplinary Teams, Specialized Centers. J Am Coll Cardiol 2022;80:2353–2355.
Image Credit: pangoasis – stock.adobe.com