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Language: English Spanish. To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis. Cross-sectional study with retrospective data collection of patients with Down syndrome from a total of 17, records.
Descriptive analysis of the data was performed, using Epi-Info version 7. Among the patients with Down syndrome, females prevailed The most common lesion was ostium secundum atrial septal defect, present in Ventricular septal defects were present in Other cardiac malformations corresponded to Pulmonary hypertension was associated with Only The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.
This incidence may vary according to maternal age, affecting one in every 30 live births in mothers with age higher than 45 years 3. The phenotype of DS includes muscular hypotonia, low height, dysmorphic facial features, heart malformations, and cognitive deficits 4 , with variable characteristics among carriers. On the other hand, symptoms or signs of these heart diseases may be absent in the fisrt days, what leads to a late diagnosis.
This may be determining in the development of heart failure, penumonia, cardiac arrhythmias, or pulmonary hypertension. Pulmonary hypertension PH is characterized by a continuous increase in vascular pressure that progressively leads to a remodeling of the pulmonary vessels and to right ventricular failure 7.
Heart diseases that have left-right shunt with increased pulmonary blood flow such as interatrial and interventricular communication lead more easily to situations of PH.
Its symptoms are usually nonspecific progressive dyspnea on exertion, angina chest pain, among others. Thus, the early diagnosis of congenital heart disease is essential to prevent or treat PH in the early stages. In DS, the investigation of such diseases is mandatory because of the high incidence of cardiac malformations and the rapid progress of PH 8 in this population. Therefore, considering the importance of congenital heart disease for children with DS, this study sought to determine the prevalence and the profile of these diseases in these patients.
We also verified the presence and severity of PH at diagnosis in a referral center for pediatric cardiology in the state of Pernambuco. We conducted a cross-sectional, descriptive and retrospective study of patients with DS treated in a pediatric cardiology referral center between and Patients were referred by pediatricians in the municipality of Recife and surroundings, without a predetermined flow of referral of patients with chromosomal disorders.
It is worth mentioning that, during the study period, 1, patients with DS were born in the state of Pernambuco. Data were collected from the database of the service and sorted according to the confirmation of the syndrome evident phenotype or karyotype.
Among a total of 17, patients treated at the referral center, had DS and were selected for the study. The respective medical charts were reviewed by collecting the following data: presence or absence of congenital heart disease diagnosed by transthoracic echocardiography , type of disease, gender, age at referral, presence or absence of pulmonary hypertension at the first echocardiography performed in the service pulmonary systolic pressure above 25mmHg at rest on echocardiography , and reason for referral.
According to the referral reasons, patients were allocated into two groups: with and without suspicion of congenital heart disease. The records obtained were submitted to analysis of frequencies using the Epi-Info program, version 7.
To differentiate the ostium secundum atrial septal defect from a patent foramen ovale, we used the documentation of a drop out in the atrial septum in the subcostal view where the defect shows well-defined edges and no echoes in the fossa oval area associated to the visualization of the interatrial shunt by Doppler and presence of signs of volume overload.
Subsequently, those who presented PH had their echocardiographic reports analyzed for determination of pulmonary artery pressure PAP. This analysis referred to the first echocardiogram at the service, always performed by pediatric cardiologists.
Patients whose echocardiogram was performed outside the service were excluded from the analysis. The diagnosis of PH was established by estimating the peak systolic gradient of the shunt between the ventricles, through the Bernoulli equation, in patients with intracardiac defects atrial, ventricular or atrioventricular septal defects. In cases with patent ductus arteriosus, we used the shunt between the aorta and the pulmonary artery.
The analysis of the regurgitation jet of the right atrioventricular valve was used only in cases where there was no possibility of shunt between the left ventricle and the right atrium. Among the analyzed patients, presented congenital heart disease Table 1 shows the prevalence of different types of congenital heart disease in patients with DS. The most common was ostium secundum atrial septal defect ASD with Tetralogy of Fallot represented only 6.
It is important to highlight that many patients presented more than one structural heart defect concomitantly. As to the age at referral, patients were divided into before and after 6 months of age.
Only a minority The most common cardiovascular defects in this group were ASD Pulmonary hypertension was found in 42 More details are found in Table 2. Among the patients with DS referred to the center, This finding is justified by the fact that the study site is a reference center, receiving patients who were already screened. Of those who were referred only due to DS that is, without clinical suspicion of congenital heart disease , This demonstrates that, often, the disease does not show clear signs and symptoms, especially in the first days of life.
However, studies differ as to the frequency of each, being AVSD 6 more prevalent in some researches, while, in others, VSD is the most common In this study, the ASD showed the highest prevalence This difference may be due to the fact that this study used outpatients, that is, those in better clinical conditions.
Therefore, we may have underestimated the amount of serious defects, such as the AVSD, in comparison to studies covering the entire population with DS. Nevertheless, the most common diseases found are consistent with the same group of diseases reported in the literature. This is worrying, since early diagnosis coupled with effective surgical treatment is mainly responsible for the decrease in morbidity and mortality in this population 11 - In patients with pulmonary hypertension, the severe form was present in The majority of cases is explained by the fact that the disease leads to an increased pulmonary blood flow and, consequently, to PH.
Moreover, it has been reported that patients with DS demonstrate early progression to PH when they present with left-to-right shunt lesions However, it should be highlighted that individuals with DS may have PH for various causes such as chronic airway obstruction, abnormal growth of the pulmonary vasculature, alveolar hypoventilation, decreased number of alveoli, thinner pulmonary arterioles, among others However, only a minority of patients was referred to the service before 6 months of age, preventing early diagnosis.
This fact may hinder the possibility of heart surgery because PH can evolve to a scenario in which surgery is contraindicated PH by hyperesistance , further increasing mortality in these patients.
Furthermore, most patients had severe PH, emphasizing even more the importance of the early diagnosis. This fact is described in some studies that justify the finding by the possibility of endothelial dysfunction in such patients Moreover, the incidence of PAH in neonates with DS is much larger up to 50 times more than those without the syndrome 16 , which makes them more prone to progress to Eisenmenger syndrome than other groups It is noteworthy that this study has limitations.
The fact that this was a retrospective study decreases quality in obtaining the necessary information, which was minimized by the adoption of electronic medical records and the fact that only the echocardiograms performed by pediatric cardiologists within the service were analyzed.
However, the use of the non-invasive assessment, rather than cardiac catheterization to establish the diagnosis of PH was also a limitation of the study. On the other hand, the study is valid due to its considerable sample size and for the relative small number of studies associated to DS and PAH in Brazil. Therefore, the prevalence of congenital heart defects in individuals with DS was higher in the health service studied in comparison to other studies, which can be explained by the fact that the service is a referral center.
Still, the low percentage of referrals before the age of 6 months reinforces the need for better tracking of patients with DS. This approach becomes imperative when considering the high frequency and the evolution to PH in these patients. De um total de Mais detalhes encontram-se no Quadro 1. Apesar disso, as cardiopatias mais frequentes encontradas condizem com o mesmo grupo relatado na literatura. National Center for Biotechnology Information , U. Journal List Rev Paul Pediatr v.
Rev Paul Pediatr. Villachan , 1 and Sandra da Silva Mattos 1. Author information Article notes Copyright and License information Disclaimer. Received Dec 31; Accepted Jan Copyright notice.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. This article has been cited by other articles in PMC. Abstract OBJECTIVE: To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.
Keywords: hypertension, pulmonary; heart defects, congenital; Down syndrome. Method We conducted a cross-sectional, descriptive and retrospective study of patients with DS treated in a pediatric cardiology referral center between and Results Among the analyzed patients, presented congenital heart disease Table 1 Prevalence of congenital heart disease in children with Down syndrome. Open in a separate window. Table 2 Relationship between the degree of pulmonary hypertension, number of cases, and cardiac lesions.
Discussion Among the patients with DS referred to the center, References 1. Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation 15;21 q26;q J Med Genet.
Cuckle HS. Primary prevention of Down's syndrome. Int J Med Sci.
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Johanson A, Blizzard R. Syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsortion. J Pediatr ; Eponym: Johanson- Blizzard Syndrome.