Characterization of Pediatric Thoracic Aneurysms

Study Questions:

What are the characteristics of nonsyndromic (NS) pediatric patients with thoracic aortic aneurysms (TAAs)? Is global phenotype useful to stratify risk and guide clinical management in these patients?

Methods:

A retrospective cohort of 128 patients ≤21 years of age with TAA seen in a single-center cardiovascular genetics clinic from July 2010-July 2012 was evaluated. Patients with connective tissue disorders, complex congenital heart defects, or at least moderate aortic valve stenosis or regurgitation were excluded.

Results:

Of the 69 patients who met inclusion criteria, 77% tested negative for FBN1, TGFBR1, TGFBR2 mutations. About 90% had at least one skeletal, craniofacial, cutaneous, or ocular abnormality, with a median Ghent score of 2, well below the diagnostic threshold of 7 for the diagnosis of Marfan syndrome. Ocular and cutaneous abnormalities were associated with increased rate of aortic root dilation. Craniofacial abnormalities were associated with ascending aorta dilation. Beta-blocker (BB) or angiotensin-receptor blocker (ARB) therapy appeared to reduce the rate of aortic enlargement. There were no cases of aortic dissection.

Conclusions:

Many nonsyndromic pediatric TAA patients have some degree of systemic connective tissue involvement, including skeletal, craniofacial, ocular, or cutaneous manifestations. BB or ARB therapy may reduce the rate of disease progression and obviate long-term complications in these patients.

Perspective:

This study suggests that pediatric patients with TAAs would benefit from cardiogenetic evaluation and targeted genetic testing. Without meeting strict criteria for connective tissue disorders, many of these patients were found to have minor skeletal, craniofacial, ocular, or cutaneous abnormalities. These findings were associated with an increased rate of progression of aortic root or ascending aorta dilation, which appears to respond favorably to BB or ARB therapy. This small, single-center, retrospective study presents preliminary evidence that this phenotype may increase risk, warranting closer follow-up. It also suggests that this previously unrecognized patient subset may benefit from earlier initiation of BB or ARB therapy.

Clinical Topics: Cardiac Surgery, Congenital Heart Disease and Pediatric Cardiology, Valvular Heart Disease, Vascular Medicine, Aortic Surgery, Cardiac Surgery and CHD and Pediatrics, Cardiac Surgery and VHD, Congenital Heart Disease

Keywords: Adrenergic beta-Antagonists, Aneurysm, Dissecting, Aortic Aneurysm, Thoracic, Aortic Valve Stenosis, Connective Tissue Diseases, Craniofacial Abnormalities, Heart Defects, Congenital, Marfan Syndrome, Mutation, Phenotype, Protein-Serine-Threonine Kinases, Receptors, Transforming Growth Factor beta


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