Unrepaired Transitional Atrioventricular Septal Defect in a Geriatric Woman with Down Syndrome. Case Report
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MEDICINE
Unrepaired Transitional Atrioventricular Septal Defect in a Geriatric Woman with Down Syndrome. Case Report Eric M. Sheffield 1 & Allison J. Sterk 2 & Bennett P. Samuel 2 & Stephen C. Cook 2,3 Accepted: 9 October 2020 # Springer Nature Switzerland AG 2020
Abstract Congenital heart disease (CHD) is frequently described in patients with Down syndrome (DS). Advances in cardiovascular surgery have led to an increase in life expectancy for adult patients with CHD. Patients with DS and CHD that have undergone early surgical repair are now living well into the 7th decade of life. This case report illustrates the survivability of an unrepaired 64-year-old woman with DS and CHD of moderate complexity. Transthoracic echocardiogram confirmed diagnosis of transitional atrioventricular septal defect (AVSD). Prior to the early 1990s, patients with DS did not undergo routine surgery for complex CHD. Patients with DS and unrepaired transitional AVSD are at high risk for developing late-onset complications including pulmonary vascular disease, left ventricular outflow tract obstruction, and valvular regurgitation. Appropriate lifelong evaluation and surveillance of late-onset complications in adults with CHD and DS will ultimately lead to the highest quality of care. Keywords Atrioventricular septal defect . Congenital heart disease . Down syndrome . Geriatric
Introduction Congenital heart defects are often repaired in the newborn period. Early surgical repair results in optimal long-term outcomes [1, 2]. Congenital heart disease is frequently described in patients with Down syndrome including ventricular septal defect, atrioventricular septal defect, and other complex congenital heart defects [3]. As a result of advances in surgical and medical therapies, patients with Down syndrome and
This article is part of the Topical Collection on Medicine Electronic supplementary material The online version of this article (https://doi.org/10.1007/s42399-020-00579-4) contains supplementary material, which is available to authorized users. * Stephen C. Cook [email protected] 1
College of Human Medicine, Michigan State University, Grand Rapids, MI, USA
2
Congenital Heart Center, Helen DeVos Children’s Hospital, Adult Congenital Heart Disease Program, Spectrum Health, 100 Michigan NE (MC248), Grand Rapids, MI 49503, USA
3
Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA
congenital heart defects that have undergone surgical repair early in life are now living well into the 7th decade of life [1, 4].
Case Presentation A 64-year-old woman with past medical history of Down syndrome and vitamin D deficiency was referred to the adult congenital heart disease clinic at a tertiary care center by her pediatric cardiologist. In light of developmental delays, review of systems was provided by a family member who reported that the patient had not demonstrated any functional decline. The patient walks approximately one-half mile 3–4 times per week without lim
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