Prevalência de cardiopatias congênitas em portadores da síndrome de Down na cidade de Pelotas (RS)

Boas, Luciana T. Vilas; Albernaz, Elaine; Costa, Rafaéla Gonçalves

doi:10.1590/s0021-75572009000500006

Cited by 14 publications

(12 citation statements)

References 19 publications

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“…Another important feature is the relationship of certain chromosomal abnormalities with specific heart defects. Down syndrome, for instance, shows association with atrioventricular septal defects ( 47 , 48 ) ; and Edwards and Patau syndromes, with septal defects, such as interventricular and atrial communication. The polyvalvular disease is also common among these individuals ( 43 - 46 ) .…”

Section: Resultsmentioning

confidence: 99%

“…Outra característica importante é a relação de certas anormalidades cromossômicas com defeitos cardíacos específicos. A síndrome de Down, por exemplo, apresenta associação com defeitos do septo atrioventricular ( 47 , 48 ) ; as síndromes de Edwards e de Patau, com defeitos septais, como a comunicação interventricular e a comunicação atrial. A doença polivalvular é também comum entre esses indivíduos ( 43 - 46 ) .…”

Section: Estudos Que Avaliaram a Frequência De Anormalidades Cromossôunclassified

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Congenital heart disease and chromossomopathies detected by the karyotype

Trevisan

Rosa

Koshiyama

et al. 2014

Rev. paul. pediatr.

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OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome). These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky. CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

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Section: Resultsmentioning

confidence: 99%

Section: Estudos Que Avaliaram a Frequência De Anormalidades Cromossôunclassified

Congenital heart disease and chromossomopathies detected by the karyotype

Trevisan

Rosa

Koshiyama

et al. 2014

Rev. paul. pediatr.

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“…3,[5][6][7][8][9][10][11][12][13][14][15][16][17] The types of heart defect may vary according to geographic region. In this study, the most common type was atrial septal defect, which was similar to the findings from other Table 1.…”

Section: Discussionmentioning

confidence: 99%

Down syndrome: Prevalence and distribution of congenital heart disease in Brazil

et al. 2015

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CONTEXT AND OBJECTIVE: Down syndrome is the most common genetic disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of congenital heart disease. The objective of this study was to determine the prevalence and profile of congenital heart disease among patients attended at a Down syndrome outpatient clinic in southern Brazil between 2005 and 2013. DESIGN AND SETTING: Cross-sectional study conducted in a referral center. METHODS: Data were retrospectively gathered from the medical files of 1,207 patients with Down syndrome, among whom 604 (50.0%) had been diagnosed with congenital heart disease. These data were subjected to descriptive analysis using the Statistica software. RESULTS: Among the 604 patients with congenital heart disease, 338 (55.8%) were male and 269 (44.5%) were female. The most common heart diseases were atrial septal defect in 254 patients (42.1%); total atrioventricular septal defect in 91 (15.1%); atrial septal defect and ventricular septal defect in 88 (14.6%); ventricular septal defect in 77 (12.7%); patent ductus arteriosus in 40 (6.6%); patent foramen ovale in 34 (5.6%) patients; tetralogy of Fallot in 12 (2%); and other diseases in 8 (1.3%). Pulmonary hypertension was present in 57 (9.4%). Out of the total, 150 patients (24.8%) underwent cardiac surgery. CONCLUSION: The high prevalence of congenital heart disease among the patients at the Down syndrome outpatient clinic (50%) was similar to findings from other studies and justifies investigation during the neonatal period, so as to decrease mortality and morbidity. RESUMO

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“…Down Syndrome (DS) is characterized by a complete trisomy of chromosome 21 in 95% of cases, occurring in approximately one in every 700 live births ( 1 , 2 ) . 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.…”

Section: Introductionmentioning

confidence: 99%

“…Congenital heart diseases occurr in 40 to 60% of individuals with Down syndrome, being one of the primary causes of morbimortality ( 5 ) , especially in the first 2 years ( 3 , 6 ) . On the other hand, symptoms or signs of these heart diseases may be absent in the fisrt days, what leads to a late diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

Mourato¹,

Villachan²,

Mattos³

2014

Rev. paul. pediatr.

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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. METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7. RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age. CONCLUSIONS: 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.

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Prevalência de cardiopatias congênitas em portadores da síndrome de Down na cidade de Pelotas (RS)

Cited by 14 publications

References 19 publications

Congenital heart disease and chromossomopathies detected by the karyotype

Congenital heart disease and chromossomopathies detected by the karyotype

Down syndrome: Prevalence and distribution of congenital heart disease in Brazil

Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

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