Advancing Pediatric Care: New and Comprehensive Approaches for Cardiovascular Management of Aortopathies in Children

Aortopathies represent a diverse group of conditions affecting the aorta and its branches, in which there is an increased risk for aneurysm formation, dissection or rupture, with potentially life-threatening consequences. Early diagnosis, regular surveillance, and timely treatment are crucial for optimal management and prevention of adverse outcomes. Previously published evidence and consensus-based guidelines exist for the diagnosis and management of thoracic aortic disease in adults.^1,2 However, these recommendations are not readily applicable to growing children who present a unique set of challenges related to diagnosis and risk determination. Given the absence of pediatric specific guidelines, health care professionals have relied on their own anecdotal experience or consultation with trusted colleagues to guide care. As a result, significant practice variation exists in the cardiac management of children with aortopathies.³ The American Heart Association (AHA) Scientific Statement on Cardiovascular Management of Aortopathy in Children by Morris SA, et al provides a much-needed framework based on currently available evidence and expert consensus for the diagnosis and management of aortic disease in children. These clinical considerations will undoubtedly have a substantial impact on improving care, decreasing variations, and impacting long-term outcomes in the patient population.

Early detection is key for optimal management of aortopathies, and begins with recognition of at-risk populations, such as those with a family history of cardiovascular concerns, syndromic and non-syndromic hereditary thoracic aortic diseases (HTADs), or certain congenital heart defects such as bicuspid aortic valve, which are known to predispose individuals to aortic dilation. The AHA Scientific Statement highlights the importance of obtaining a detailed clinical history, thorough physical exam and extended family history, when evaluating a child with suspected aortopathy. A comprehensive listing of evolving multi-system features suggestive of syndromic aortopathy is provided for reference. Since physical features can develop or become more prominent with increasing age, serial follow up evaluation is often necessary.

When hereditary aortopathy is suspected, genetic testing can play a pivotal role in early detection, monitoring of disease progression and risk stratification. A detailed evaluation and genetic testing algorithm are provided in this document and serve as a useful resource for health care professionals evaluating children with suspected aortopathy. Identification of a genetic etiology can help inform personalized management strategies for affected individuals and identify at-risk family members through cascade genetic testing.⁴ Importantly, in cases where there is high clinical suspicion for an aortopathy but absence of positive genetic testing, the authors stress the need for ongoing follow up with genetics, as reclassification of uncertain variants and discovery of new genes is an ongoing process.

Imaging is critical to diagnosis, ongoing surveillance and clinical decision-making in aortopathies. This AHA publication is the first to present a standardized approach for performing and reporting echocardiographic and cross-sectional imaging measurements of the aorta and other cardiac structures in children, as well as a suggested algorithm for frequency of routine follow up imaging based on age, severity of aortic dilation, underlying condition and additional risk factors.⁵ To account for growth, measurements in the pediatric population are normalized to body surface area.⁶ The document offers a detailed rationale supporting the use of z-scores for reporting measurements in children, and is the first to provide a new grading scale for assessing severity of aortic dilation. In individuals with genetic conditions at risk for aortopathy, such as Marfan syndrome, Loeys-Dietz syndrome and Vascular Ehlers-Danlos syndrome, additional cross-sectional imaging measurements, such as the vertebral tortuosity index (VTI) and the aortic tortuosity index are recognized for their prognostic value in identifying risk for adverse events.^7,8

Approaches to medical management for the treatment of aortopathy in children have mainly stemmed from randomized clinical trials in Marfan syndrome. While the benefits of medical therapy have been shown to have the greatest benefit in slowing aortic growth when instituted at a younger age (Lacro), there continues to be considerable practice variation regarding initiation of therapy.⁹ Additionally, a lack of robust clinical trials and comprehensive data has made optimization of treatment strategies in children a challenge. This AHA Scientific Statement presents a systematic approach to pharmacologic therapy unique to children with aortopathy and based on etiology and severity of aortic dilation. Importantly, it takes into account the presence of additional high-risk features that may impact therapeutic decision-making. Medications to avoid are listed, including those with vasoconstrictive effects and fluoroquinolones, due to a reported increased risk for dissection when administered systemically in individuals at risk for aortic aneurysms.¹⁰ The document also addresses a frequently encountered question by pediatric providers regarding whether children with aortopathies can be prescribed stimulant medications for treatment of attention deficit disorder, offering that these medications should not be restricted if they are necessary for children to be able to function in school and other social situations, and suggesting careful monitoring of heart rate and blood pressure when prescribed.

Exercise is another critical area deserving recommendations specific to children. Safe exercise offers several important benefits, including blood pressure control, healthy weight management, musculoskeletal strength, enhanced mental health, social interaction and improved quality of life. Moreover, establishing incorporation of healthy and safe physical activity habits early in life helps set the foundation for a healthy lifestyle in adulthood. To date, adult guidelines have primarily been used to guide activity recommendations in children.^11,12 However, there is appropriate concern in the pediatric community that these guidelines are intended for adult competitive athletes, and thus over-restrict children when applied to their daily activities and recreational sports.¹³ This AHA Scientific Statement is the first to provide an expert consensus regarding clinical considerations related to exercise and activity, based on age, underlying diagnosis, aortic size and intensity of activity. Exercise counseling needs to be tailored to meet the specific needs and limitations of each child. Emphasis is placed on promoting patient and family education while fostering a collaborative relationship with clinicians so that shared decision-making can begin early in childhood to determine the most appropriate and safe exercise plan based on type of activity and level of effort.

While aortic dissection is rare in children, it can be a potentially life-threatening event. Elective repair of aortic aneurysms is key to preventing dissection and enhancing long-term outcomes.^1,2 Yet, determining the optimal timing for prophylactic aortic surgery in children remains challenging, as criteria based on adult data may not apply. This report offers parameters to consider for elective surgical intervention on the aorta in children, taking into account factors such as aortic size, genetic subtypes and additional high-risk features. Surgical options for aortic root replacement are reviewed in detail, underscoring the importance of a tailored approach. Given the infrequent nature of these procedures, it is imperative that referral be made to specialized centers with experienced providers to achieve the best outcomes.

Finally, this article underscores the importance of a coordinated and comprehensive multi-disciplinary approach to care, ensuring that patients with aortopathies benefit from the collective expertise of a diverse team of health care professionals. A team approach can offer better support to patients and their families, addressing not only the medical but also psychological, social, and educational needs. Importantly, a smooth transition to an adult care team specializing in aortopathies is vital to improve long-term outcomes.

In summary, the value of these new suggested clinical strategies for diagnosing and managing aortopathies in children cannot be overstated. They represent a milestone in pediatric care, offering clarity, consistency, and expert consensus-based guidance for health care professionals. This work is based on currently available scientific evidence which is notably limited and thus, they also present opportunities to inspire further research in this area. By facilitating early diagnosis, guiding tailored treatment, and promoting informed clinical decision-making, these proposed clinical approaches hold the promise of improving outcomes and enhancing the quality of life for children with aortopathies and their families.