![]() 11) Blood pressure measurements are necessary at every visit, and the aggressive management of hypertension is recommended if hypertension is detected. 13) Moreover, aortic dissection (1-2%), systemic hypertension (30-50%), and ischemic heart disease are of concern in adult Turner patients, and are often fatal and the leading causes of increased mortality. 12) 13) Partial anomalous pulmonary venous return and ventricular septal defect can also be found. The most common abnormalities are bicuspid aortic valve (16%) and coarctation of the aorta (11-14%). 4)Īmong variable clinical phenotypes, Turner syndrome is commonly accompanied by cardiovascular malformations in 25-45% of live born girls. 8) The American Academy of Pediatrics announced the revised guidelines for children with Down syndrome in 2011, and recommended regular monitoring for signs and symptoms of congestive heart failure at every visit if the patient has congenital heart disease. ![]() It should also be considered that Down syndrome is a significant risk factor for the development of a post-operative atrioventricular block. 7) Therefore, there is now a consensus favoring early diagnosis and surgical repair. 3) 5) 6) The five-year survival rate is almost 70% for surgically-corrected atrioventricular canal defects in Down syndrome, being no different from that of patients without Down syndrome. Nevertheless, many epidemiological studies have reported that Down syndrome does not increase surgical mortality and morbidity during the repair of the atrioventricular canal defect. In addition, the incidence of persistent pulmonary hypertension of a newborn is increased 10-fold in those with Down syndrome. 4) It is well known that pulmonary hypertension develops more often and earlier in patients with congenital heart disease and Down syndrome. 3) As a result, echocardiograms should be performed in all patients at diagnosis, regardless of whether a fetal echocardiogram was performed. Various cardiac malformations can be associated with Down syndrome, however atrioventricular canal defects, atrial and ventricular septal defects, and tetralogy of Fallot are commonly observed. The following are discussed: Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome.Ĭongenital heart disease occurs in 40-50% of Down patients and is an important determinant of survival. Here, common genetic syndromes associated with various types of congenital heart disease are introduced with a brief review of their respective genetic backgrounds. Understanding genetic etiology in a certain patient with both congenital heart disease and other anomalies can help clinicians to effectively plan a patient's surgical and medical management and their follow-up. 1) Recent advances in molecular genetic techniques have found evidence of the role of genetic factors in the development of congenital heart disease ( Table 1). Approximately 30% of congenital heart disease is thought to be related to genetic syndromes accompanied by extra-cardiac anomalies. Congenital heart disease is a multifactorial disorder associated with both genetic and environmental influences. Keywords: Heart defects, congenital, Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, Noonan syndromeĬongenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. ![]() Many kinds of genetic tests are commercially available, and more are currently under development. Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. ![]()
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