The evolving treatment of congenital heart disease in patient with Down syndrome: Current state of knowledge.

OBJECTIVES: Children with Down syndrome are usually seen as not worthy of high-risk cardiac surgery. Through this review, we try to show the results of curative and palliative surgery for functional single ventricle syndrome in patients with Down syndrome, as there is currently no standard protocol for the treatment of this category of patients. METHODS: An exhaustive search of all related published medical literature included the following domains: Down syndrome and diagnosis, Down syndrome and taxonomy, Down syndrome, and natural history, Down syndrome and cardiovascular abnormalities, Down syndrome and pulmonary hypertension, Down syndrome and institutionalization, Down syndrome and surgical repair, Down syndrome, and single ventricle palliation, Down syndrome and Glenn, Down syndrome, and Fontan. RESULTS: 12 articles were included from 775 identified. Low-risk cardiac surgery procedure should be provided for Down syndrome with a balanced ventricular septal defect. There is no universal agreement about the surgical approach for Down syndrome with unbalanced ventricular septal defects, but it can be performed at relatively low risk. CONCLUSIONS: TCPC in Down syndrome patients could be a relatively low-risk procedure if patients are prepared well and their pulmonary vascular resistance is low. Randomized prospective studies are required to show the long-term impact of TCPC palliation and develop a better understanding of standardized care of these patients.

Cardiac recovery and outcome of neonates and infants presenting with severe aortic coarctation and depressed cardiac function.

OBJECTIVES: Coarctation of the aorta represents 5-8% of all congenital heart diseases. Children with severe coarctation of the aorta may present with significant depression of myocardial function. The aim of this study is to identify short and midterm outcomes of neonates and infants with isolated coarctation of the aorta and depressed left ventricular systolic function with regard to recovery of their cardiac function. METHODS: All patients with isolated coarctation of the aorta who underwent surgical repair between December 2002 and December 2015 were retrospectively reviewed in a cohort study. The patients were divided into 2 groups: (1) Patients with depressed left ventricle systolic function who were found to have an ejection fraction and fractional shortening less than 55% and 25%, respectively, (2) Patients with coarctation of the aorta and normal left ventricle systolic function (Control Group). We reviewed both groups after surgery and compared them in terms of their cardiac function recovery. RESULTS: 58 patients were included. 25 patients (43%) depressed left ventricle systolic function group, 33 patients (57%) Control Group. There were statistically significant differences in ejection fraction and fractional shortening (p < 0.0001) between the two groups before surgery. Follow-up demonstrated improvement and recovery of ventricular function in most of the patients, six months after surgery there was no more statistical difference between the groups in terms of cardiac function. CONCLUSION: Majority of the patients with isolated coarctation of the aorta and depressed left ventricle systolic function showed improvement of ventricular function within 4 weeks after surgery, except for patients with residual coarctation of the aorta.

Isolated non-compaction cardiomyopathy.

BACKGROUND: Isolated non-compaction cardiomyopathy (NCCM) was first described in 1984. This disorder, a primary genetic cardiomyopathy, is now attracting increased attention. METHOD: The current state of the epidemiology, pathogenesis, pathophysiology, clinical features, diagnosis, treatment, and prognosis of NCCM are discussed on the basis of a review of selected literature as well as the authors' personal experience. RESULTS: The pathogenesis of NCCM is thought to involve a genetically determined disturbance of the myocardial compaction process during fetal endomyocardial morphogenesis. It is not accompanied by any other cardiac anomalies. Echocardiography is the diagnostic method of choice. The diagnosis is based on the following echocardiographic criteria: the presence of at least 4 prominent trabeculations and deep intertrabecular recesses, blood flow from the ventricular cavity into the intertrabecular recesses, and a typical bilaminar structure of the affected portion of the left ventricular myocardium. NCCM can also be diagnosed with magnetic resonance imaging of the heart. The clinical severity of NCCM is variable; its manifestations include heart failure, thromboembolic events, and arrhythmias. The treatment is symptom-based. Patients with symptomatic NCCM have a poor prognosis. CONCLUSION: NCCM is a type of cardiomyopathy that was first described 25 years ago. Its molecular genetic basis is not yet fully clear, and the same is true of its diagnosis, treatment, and prognosis. Further study of these matters is needed.