Espectro óculo-aurículo-vertebral e malformações cardíacas

Abstract

Objective. To verify the frequency and types of congenital heart defects in a sample of patients with oculo-auriculo-vertebral spectrum (OAVS), in order to correlate the presence of these defects with other clinical characteristics and evolution. MethOds. The sample comprised 33 subjects, all attended in the same center, between January 1975 and December 2007. Twenty two of them were male and eleven female with ages ranging from 1 day to 17 years old. All presented normal karyotype by GTG-Banding. A data collection related to their clinical history, physical examination and result of complementary evaluations was performed. Results. Cardiac abnormalities were observed in 13 patients (39.4%). Of these, 5 (38.5%) were conotruncal, tetralogy of Fallot being the main malformation (n=2). Unusual anomalies identified included cor triatriatum and double inlet left ventricle. Significant differences among the clinical characteristics of the group with and without heart defect were only verified in relation to age at first evaluation that was lower in subjects with cardiac malformations. Five patients died, four of them carriers of congenital heart defects. cOnclusiOn. Cardiac malformations, mainly of the conotruncal and septal types, are frequent among patients with OAVS. The frequency found in our study was statistically similar to the one found in the majority of works described in literature, which ranges from 18 to 58%. Congenital heart defects also represent the main cause of death of these subjects. Thus, a cardiac evaluation should always be performed in these patients, especially at an early age.

A survey of recently published cardiovascular, hematological and pneumological original articles in the Brazilian scientific press

“…de Souza et al23 studied the mortality rate of children undergoing to Fontan operation and determined whether the hypoplastic left heart syndrome is not a risk factor for hospital mortality. Rosa et al24 checked on the frequency and types of congenital heart defects in a sample of patients with oculo-auriculovertebral spectrum, in an effort to correlate presence of these defects with other clinical characteristics and evolution. They find that cardiac malformations, mainly conotruncal and septal defects, are frequent among such patients.…”

Oculoauriculovertebral spectrum with radial anomaly in child

“…Oculoauriculovertebral spectrum (OAVS) presents with an estimated prevalence that ranges from 1 to 5,600 in 45,000 of live-births, and is considered the result of a blastogenesis defect that particularly involves the structures originating from the first branchial arches. [12] In approximately 5 to 15% of the cases, mild mental retardation may also be present. The anomalies observed in OAVS are hypoplasia of the thumb and hypoplasia and/or agenesis of the radio.…”

Espectro oculoauriculovertebral: frequência de anomalias associadas

“…Rollnick et al (1987) , 1996;TASSE et al, 2005;TOULIATOU et al, 2006;STROMLAND et al, 2007;SILVA et al, 2014). (SHOKEIR, 1977;ROLLNICK et al, 1987;ROLLNICK;MORRISON et al, 1992;KUMAR et al, 1993;TASSE et al, 2005;TOULIATOU et al, 2006;ENGIZ et al, 2007;DIGILIO et al, 2008;STROMLAND et al, 2007;ROSA et al, 2010a;BARISIC et al, 2014;SILVA et al, 2014 , 1974;GREENWOOD et al, 1974;SHOKEIR, 1977;ROLLNICK et al, 1987;MORRISON et al, 1992;KUMAR et al, 1993;WERLER et al, 2004b PADWA, 2005;TASSE et al, 2005;DIGILIO et al, 2008;MCKAY et al, 2012;GAURKAR et al, 2013;AL KAISSI et al, 2014;SILVA et al, 2014). PADWA, 2005;TASSE et al, 2005;ENGIZ et al, 2007;KEOGH et al, 2007;STROMLAND et al, 2007;ROORYCK et al, 2010 (WITTERS et al, 2001;BRADY et al, 2002;BERGMANN et al, 2003;…”

“…Na presente casuística, observou-se microtia em 340 indivíduos (87,40%), microtia isolada em 10 (2,57%), apêndices pré-auriculares em 235 (60,41%), ectopia pré-tragal em 24 indivíduos (6,17%), agenesia em 196 (50,39%) e atresia do canal auditivo externo em 97 indivíduos (24,94%) (Tabela 10). Estes dados corroboraram com a grande maioria dos trabalhos da literatura (JIN et al, 2010;ROSA et al, 2010a;ROSA et al, 2011;BELEZA-MEIRELES et al, 2014;SILVA et al, 2014).…”

“…Dados do presente estudo corroboraram com a literatura, considerando que as anomalias de sistema nervoso central variaram de 2% a 50% BARR, 1983;ROLLNICK et al, 1987;SCHRANDER-STUMPEL et al, 1992;BRUNETEAU;MULLIKEN, 1993;TASSE et al, 2005;STROMLAND et al, 2007;ENGIZ et al, 2007;ROORYCK et al, 2010;ROSA et al, 2010b (ROLLNICK et al, 1987;MORRISON et al, 1992;KUMAR et al, 1993;BAMFORTH;MACHIN, 1996;LIN et al, 1998;DERBENT et al, 2005;ROSA et al, 2010a). Vários estudos mostraram que a frequência dos defeitos cardíacos varia de 5% a 58%, sendo defeito conotruncal e septal, as malformações mais comumente relatadas SARACLAR, 1974;GREENWOOD et al, 1974;SHOKEIR, 1977;ROLLNICK et al, 1987;MORRISON et al, 1992;KUMAR et al, 1993;WERLER et al, 2004b;DIGILIO et al, 2008;ROSA et al, 2010a;BARISIC et al, 2014). Análise estatística, por meio do teste Qui-quadrado mostrou diferença estatisticamente significativa (p<0,001) entre os dados do presente estudo e os da literatura.…”