Turner syndrome and cardiovascular anomalies: Care for girls and women
Journal
Pediatrics and Neonatology
Journal Volume
61
Journal Issue
2
Pages
129-130
Date Issued
2020
Author(s)
Chiu H.-H.
Abstract
Turner syndrome (TS) occurs in about one of 2500 live-born females, and it is the most common sex chromosome abnormality1Chang H.P. Chiou J.Y. Chen J.Y. Su P.H. Prenatal cytogenetic diagnosis in Taiwan: a nationwide population-based study.J Matern Fetal Neonatal Med. 2017; 30: 2521-2528Crossref Scopus (2) Google Scholar in pregnant women who were undergoing amniocentesis. The common clinical features include short stature, renal anomalies, cardiac anomalies, and primary amenorrhea. Adults with TS may be susceptible to a range of disorders, such as osteoporosis, hypothyroidism, and others.2Elsheikh M. Dunger D.B. Conway G.S. Wass J.A. Turner's syndrome in adulthood.Endocr Rev. 2002; 23: 120-140Crossref PubMed Scopus (337) Google Scholar Currently, growth hormone therapy is effective in treating the short stature, and TS patients may reach an adult height of 150.0 ± 5.1 cm.3Hsu P.Y. Tung Y.C. Tsai W.Y. Lee J.S. Hsiao P.H. Effect of growth hormone therapy on adult height of children with Turner syndrome.J Formos Med Assoc. 2008; 107: 704-709Crossref PubMed Scopus (7) Google Scholar However, no report has discussed the long-term outcome of TS and the management of adults with TS in Taiwan. In patients with TS in Taiwan, the occurrences of congenital heart disease have been summarized by Dr. Hou et al.,4Hou J.W. Hwu W.L. Tsai W.Y. Lee J.S. Wang T.R. Lue H.C. Cardiovascular disorders in Turner's syndrome and its correlation to karyotype.J Formos Med Assoc. 1993; 92: 188-189PubMed Google Scholar who showed aortic malformations (aortic coarctation and aortic stenosis), the most frequent cardiac anomalies. Dr. Chou et al. did a retrospective review in 105 patients with TS at their medical center between Jan 1994 and Dec 2018.5Chou Y.Y. Wang C.J. Lin C.H. Chung H.T. Lo F.S. Association between cardiovascular anomalies and karyotypes in Turner syndrome patients in Taiwan: a local cohort study.Pediatr Neonatol. 2020; 61: 188-194Abstract Full Text Full Text PDF PubMed Scopus (4) Google Scholar This study is the largest case series of patients in Taiwan that is currently available. The prevalence of congenital cardiovascular anomalies in patients with TS reported by Dr. Hou et al.4Hou J.W. Hwu W.L. Tsai W.Y. Lee J.S. Wang T.R. Lue H.C. Cardiovascular disorders in Turner's syndrome and its correlation to karyotype.J Formos Med Assoc. 1993; 92: 188-189PubMed Google Scholar and Dr. Chou et al.5Chou Y.Y. Wang C.J. Lin C.H. Chung H.T. Lo F.S. Association between cardiovascular anomalies and karyotypes in Turner syndrome patients in Taiwan: a local cohort study.Pediatr Neonatol. 2020; 61: 188-194Abstract Full Text Full Text PDF PubMed Scopus (4) Google Scholar reported were 22.4% and 27.6%, respectively, similar to the previous reports.6Silberbach M. Roos-Hesselink J.W. Andersen N.H. Braverman A.C. Brown N. Collins R.T. et al.Cardiovascular health in turner syndrome: a scientific statement from the American heart association.Circ Genom Precis Med. 2018; 11e000048Crossref Scopus (88) Google Scholar Cardiovascular anomalies, both congenital and acquired in patients with TS, increases morbidity and mortality. TS is well known an independent risk factor for aortic dilatation (AD), which may progress to aortic dissection or rupture. In TS, aortic dissection occurred in approximately 40/100,000 person-years compared to 6/100,000 person-years in general population.6Silberbach M. Roos-Hesselink J.W. Andersen N.H. Braverman A.C. Brown N. Collins R.T. et al.Cardiovascular health in turner syndrome: a scientific statement from the American heart association.Circ Genom Precis Med. 2018; 11e000048Crossref Scopus (88) Google Scholar It became increasing apparent that other acquired cardiovascular disease such as early-onset hypertension, ischemic heart disease, and stroke, are the major causes reducing the life span in TS. Dr. Chou et al.5Chou Y.Y. Wang C.J. Lin C.H. Chung H.T. Lo F.S. Association between cardiovascular anomalies and karyotypes in Turner syndrome patients in Taiwan: a local cohort study.Pediatr Neonatol. 2020; 61: 188-194Abstract Full Text Full Text PDF PubMed Scopus (4) Google Scholar reported a significant portion of patients with TS developed aortic dilatation (18.2%) at the mean age of 25.55 ± 5.78 years, similar to those with genetic aortopathy but younger than general population.6Silberbach M. Roos-Hesselink J.W. Andersen N.H. Braverman A.C. Brown N. Collins R.T. et al.Cardiovascular health in turner syndrome: a scientific statement from the American heart association.Circ Genom Precis Med. 2018; 11e000048Crossref Scopus (88) Google Scholar Other acquired cardiovascular abnormalities were also reported during the follow-up period. Fortunately, in Dr. Chou et al.'s report, no unexpected ascending aortic complications, or coronary arterial anomalies had appeared yet during the 7-year follow-up period. However, the authors provided no information regarding cardiovascular risks, such as blood pressure, body mass index, or sex hormone replacement status, probably because of the limitations of this retrospective study. In brief, regular cardiovascular assessments,6Silberbach M. Roos-Hesselink J.W. Andersen N.H. Braverman A.C. Brown N. Collins R.T. et al.Cardiovascular health in turner syndrome: a scientific statement from the American heart association.Circ Genom Precis Med. 2018; 11e000048Crossref Scopus (88) Google Scholar beginning with the initial diagnosis and continuing beyond the first evaluation, should be included in the surveillance management plan, as suggested.7Gravholt C.H. Andersen N.H. Conway G.S. Dekkers O.M. Geffner M.E. Klein K.O. et al.Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.Eur J Endocrinol. 2017; 177: G1-G70PubMed Google Scholar Combined with the blood pressure assessments or hypertension control and patients' education about aortic dissection, it is possible to reduce the mortality risk. One interesting consideration in TS is the karyotype. Although one-third to one-half of patients lacks one complete sex chromosome, other patients may have partial loss of the second sex chromosome (the non-monosomy group) due to X chromosome rearrangements or in the mosaic situation. The phenotypes may be different in patients in the non-monosomy group8Noordman I.D. van der Velden J.A. Timmers H.J. Pienkowski C. Köhler B. Kempers M. et al.Karyotype - phenotype Associations in patients with turner syndrome.Pediatr Endocrinol Rev. 2019; 16: 431-440Google Scholar; in general, 45,X/46,XX mosaicism is associated with a milder phenotype. In Dr. Chou et al.'s report, AD was prevalent in the monosomy group5Chou Y.Y. Wang C.J. Lin C.H. Chung H.T. Lo F.S. Association between cardiovascular anomalies and karyotypes in Turner syndrome patients in Taiwan: a local cohort study.Pediatr Neonatol. 2020; 61: 188-194Abstract Full Text Full Text PDF PubMed Scopus (4) Google Scholar; however, patients with other chromosome arrangements, such as isochromosome, ring X chromosome (mosaic), and marker chromosome (mosaic), also present AD. It is therefore suggested that all patients with TS have long-term cardiovascular surveillance, whereas it can be omitted only for those with the lowest levels of 45,X7. Nevertheless, it is possible to adjust the monitoring frequency according to the abovementioned risks. TS is a syndrome that involves multiple organs through all stages of life; therefore, a multidisciplinary approach is necessary to care for patients with TS. With the advances in medical care, young patients with TS have transitioned into adulthood and even further into elder care. Understanding TS is not only limited to pediatricians and pediatric specialists but also extends to internal medicine specialists, obstetricians, and reproductive medicine specialists. With Dr. Chou et al.'s efforts to elucidate the evolving phenotypes in patients with TS in Taiwan, we can optimize care across their lifespan, and enhance the activities for future extensive collaborative studies. The authors have no conflicts of interest relevant to this article.
SDGs
Other Subjects
cardiovascular malformation; cardiovascular risk; clinical feature; Editorial; female; human; mortality risk; patient care; premature ovarian failure; sex chromosome; Taiwan; Turner syndrome; cohort analysis; karyotype; karyotyping; Cohort Studies; Female; Humans; Karyotype; Karyotyping; Taiwan; Turner Syndrome
Publisher
Elsevier (Singapore) Pte Ltd
Type
editorial