Benjamin J Landis1, Stephanie M Ware2, Jeanne James1, Amy R Shikany1, Lisa J Martin3, Robert B Hinton4. 1. Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. 2. Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN. 3. Division Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. 4. Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. Electronic address: bingrbh@icloud.com.
Abstract
OBJECTIVES: To describe the global phenotypes of pediatric patients with thoracic aortic aneurysm (TAA) who do not have a clinical diagnosis of Marfan syndrome (MFS) or related connective tissue disorders. We hypothesized that the presence of noncardiovascular abnormalities correlate with TAA severity and that medical therapy reduces TAA progression. STUDY DESIGN: This is a retrospective case series of patients with TAA age ≤ 21 years evaluated in a cardiovascular genetics clinic. Patients meeting clinical criteria for MFS or related disorders were excluded. Repeated measures analyses of longitudinal echocardiographic measurements of the aorta were used to test associations between TAA severity and noncardiovascular phenotype and to assess the impact of medical therapy. RESULTS: Sixty-nine patients with TAA at mean age 12.5 ± 5.3 years were included. Noncardiovascular abnormalities, including skeletal (65%) or craniofacial (54%) findings, were frequently observed. Increased rate of aortic root enlargement was associated with ocular (P = .002) and cutaneous (P = .003) abnormalities, and increased rate of ascending aorta enlargement was associated with craniofacial (P < .001) abnormalities. Beta blocker or angiotensin receptor blocker therapy (n = 41) was associated with reduction in the rate of aortic root growth (P = .018). CONCLUSIONS: Children with TAA not satisfying diagnostic criteria for MFS or related disorders frequently have noncardiovascular findings, some of which are associated with TAA progression. Because therapy initiation may reduce risk of progression and long-term complications, comprehensive assessment of noncardiovascular findings may facilitate early risk stratification and improve outcomes.
OBJECTIVES: To describe the global phenotypes of pediatric patients with thoracic aortic aneurysm (TAA) who do not have a clinical diagnosis of Marfan syndrome (MFS) or related connective tissue disorders. We hypothesized that the presence of noncardiovascular abnormalities correlate with TAA severity and that medical therapy reduces TAA progression. STUDY DESIGN: This is a retrospective case series of patients with TAA age ≤ 21 years evaluated in a cardiovascular genetics clinic. Patients meeting clinical criteria for MFS or related disorders were excluded. Repeated measures analyses of longitudinal echocardiographic measurements of the aorta were used to test associations between TAA severity and noncardiovascular phenotype and to assess the impact of medical therapy. RESULTS: Sixty-nine patients with TAA at mean age 12.5 ± 5.3 years were included. Noncardiovascular abnormalities, including skeletal (65%) or craniofacial (54%) findings, were frequently observed. Increased rate of aortic root enlargement was associated with ocular (P = .002) and cutaneous (P = .003) abnormalities, and increased rate of ascending aorta enlargement was associated with craniofacial (P < .001) abnormalities. Beta blocker or angiotensin receptor blocker therapy (n = 41) was associated with reduction in the rate of aortic root growth (P = .018). CONCLUSIONS:Children with TAA not satisfying diagnostic criteria for MFS or related disorders frequently have noncardiovascular findings, some of which are associated with TAA progression. Because therapy initiation may reduce risk of progression and long-term complications, comprehensive assessment of noncardiovascular findings may facilitate early risk stratification and improve outcomes.
Authors: Jeffrey A Schubert; Benjamin J Landis; Amy R Shikany; Robert B Hinton; Stephanie M Ware Journal: Am J Med Genet A Date: 2016-02-07 Impact factor: 2.802
Authors: Benjamin J Landis; Jeffrey A Schubert; Dongbing Lai; Anil G Jegga; Amy R Shikany; Tatiana Foroud; Stephanie M Ware; Robert B Hinton Journal: J Cardiovasc Transl Res Date: 2017-05-26 Impact factor: 4.132
Authors: Adam P Wheeler; Ziyi Yang; Timothy M Cordes; Larry W Markham; Benjamin J Landis Journal: Pediatr Cardiol Date: 2020-10-01 Impact factor: 1.655
Authors: Benjamin J Landis; Courtney E Vujakovich; Lindsey R Elmore; Saila T Pillai; Lawrence S Lee; Jeffrey E Everett; Larry W Markham; John W Brown; Phillip J Hess; Joel S Corvera Journal: Genes (Basel) Date: 2021-12-23 Impact factor: 4.096