RESUMO
OBJECTIVE: The yield of chromosomal microarray analysis (CMA) for prenatally detected congenital heart defects (CHD) is 6.6% to 19.2%. We evaluated the yield of CMA in cases of prenatally detected CHD in regard to specific clinical characteristics. METHODS: Data from 192 cases of CHD including type, clinical and familial background, workup performed during the pregnancy, and pregnancy outcomes were collected. RESULTS: Fetal echocardiography was performed in all cases; 61.4% of CHD were suspected by ultrasound. There was a positive family history (FH) in 15.7%. Abnormal nuchal translucency or umbilical cord anomalies were detected in 1.7% and 5.9%, respectively, and 55.1% were isolated cases. In 11 of 96 cases in which genetic testing was performed, karyotype and CMA were abnormal (11.5%). The detection rate of CMA (performed in 72 cases) was 9.7%. The yield of CMA was similar in simple cases, isolated cases, and cases with a positive FH. CMA was abnormal in 7.3% of ventricular septal defect cases. CONCLUSION: Most cases of prenatally detected CHD had no additional extra-cardiac, sonographic findings suggesting increased risk for CHD. The yield of CMA testing was significant in all clinical scenarios including simple heart malformations, isolated cases, and cases with a positive FH. © 2016 John Wiley & Sons, Ltd.
Assuntos
Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Análise em Microsséries/métodos , Diagnóstico Pré-Natal/métodos , Adulto , Aberrações Cromossômicas , Feminino , Testes Genéticos , Idade Gestacional , Humanos , Cariótipo , Medição da Translucência Nucal , Gravidez , Resultado da Gravidez , Ultrassonografia Pré-NatalRESUMO
OBJECTIVES: Unlike rheumatic fever (RF), the association of post-streptococcal reactive arthritis (PSRA) and carditis is controversial. The American Heart Association recommends anti-streptococcal prophylaxis for PSRA for one year, repeating echocardiogram and discontinuation of prophylaxis if normal. In this study the possibility of late cardiac involvement was investigated in a cohort of children with PSRA. METHODS: Children diagnosed with PSRA and followed at the Paediatric Rheumatology Units at two medical centres in Israel had echocardiography carried out by a paediatric cardiologist, at least 1 year following diagnosis. RESULTS: 146 patients with PSRA met the study criteria. Of these, 69 had undergone echocardiography 1-6.9 years (mean 3.6 years ± 1.5 years) after diagnosis. All had normal major parameters. Twenty (29.0%) patients had minimal cardiac findings, including 5 (7.2%) mild mitral insufficiency, 12 (17.4%) minimal mitral insufficiency, 2 (2.9%) mild tricuspid insufficiency and one patient (1.4%) had very mild, aortic insufficiency. Of the 77 patients who did not have echocardiography, 31 were randomly excluded from the initial study list, 26 refused to undergo echocardiography, and 20 were lost to follow-up. All were asymptomatic according to their medical record or telephone questionnaire. There were no significant differences in clinical or demographic data between those with or without echocardiography. CONCLUSIONS: No late cardiac involvement was found in our paediatric PSRA patients. Therefore, different approaches to antibiotic prophylaxis for PSRA and ARF are probably suggested. A prospective, controlled study is needed to definitively assess the necessity of prophylaxis in PSRA.
Assuntos
Antibacterianos/uso terapêutico , Artrite Reativa , Miocardite , Profilaxia Pós-Exposição/métodos , Infecções Estreptocócicas/complicações , Artrite Reativa/complicações , Artrite Reativa/diagnóstico , Artrite Reativa/epidemiologia , Artrite Reativa/microbiologia , Criança , Ecocardiografia/métodos , Feminino , Seguimentos , Humanos , Israel , Masculino , Monitorização Fisiológica/métodos , Monitorização Fisiológica/estatística & dados numéricos , Miocardite/diagnóstico , Miocardite/epidemiologia , Miocardite/etiologia , Miocardite/microbiologia , Miocardite/prevenção & controle , Avaliação de Resultados da Assistência ao Paciente , Fatores de TempoRESUMO
BACKGROUND: Although the comprehensive evaluation of the fetal heart includes echocardiography by an experienced pediatric cardiologist, economic constraints sometimes dictate the need to select patients. OBJECTIVES: To analyze the usefulness of fetal echocardiography in the detection of congenital heart disease according to the referral indication. METHODS: This retrospective survey relates to all 3965 FE studies performed in our center from January 2000 to December 2004. The diagnosed cardiac anomalies were classified as significant and non-significant malformations. All FE studies were done by a single operator (A.L.) at Meir Medical Center, a referral center for a population of about 400,000. The 3965 FE studies were performed for the following indications: abnormal obstetric ultrasound scans, maternal and family history of cardiac malformations, medication use during the pregnancy, and maternal request. The relative risk of detecting CHD was calculated according to the various referral indications. RESULTS: Overall, 228 (5.8%) cases of CHD were found. The most common indication for referral was suspicion of CHD during a four-chamber view scan in a basic system survey or during a level II ultrasound survey. No correlation was found between maternal age and gestational age at the time of scanning and the likelihood of finding CHD. CONCLUSIONS: Our data suggest that a suspicious level II ultrasound orthe presence of polyhydramnios is an important indication for FE in the detection of significant CHD.
Assuntos
Ecocardiografia/métodos , Coração Fetal/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Poli-Hidrâmnios/diagnóstico por imagem , Adulto , Interpretação Estatística de Dados , Feminino , Idade Gestacional , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Humanos , Incidência , Idade Materna , Seleção de Pacientes , Gravidez , Estudos Retrospectivos , Fatores de Risco , Sensibilidade e Especificidade , Ultrassonografia Pré-NatalRESUMO
AIMS: To test the efficacy and safety of a chitosan pad for femoral haemostasis as an adjunct to manual compression. Haemostasis of the femoral artery after coronary angiography by manual compression is time consuming and uncomfortable for the patient. Closure devices are costly and do not reduce vascular complication rate. The HemCon(r) pad is used by the US army to control traumatic bleeding. It consists of chitosan, a positively charged carbohydrate that attracts the negatively charged blood cells and platelets and promotes clotting. METHODS AND RESULTS: Patients undergoing percutaneous coronary angiography were 1:1 randomised for manual compression with regular or HemCon(r) pad. All patients were catheterised with 6 Fr sheath and received 2500 u of heparin. Time to haemostasis, incidence of minor and major bleeding, haematoma size, post-procedural stay at the hospital and level of satisfaction were compared between the two groups. Seventy patients in the HemCon group and 66 patients in the regular pad groups were recruited. Activated clotting time (ACT) before manual compression was similar, 183.9 ± 43.4 and 178.3 ± 34.2 seconds in the HemCon(r) and regular pad groups respectively. Time to haemostasis was 5.6 ± 2.1 and 8.4 ± 3.5 minutes in the HemCon® and regular pad groups, respectively (p<0.001). Haematoma developed in 6% and 14.8% of patients in the HemCon(r) and regular pad group, respectively (p=0.14). CONCLUSIONS: The HemCon(r) pad significantly decreased time-to-haemostasis compared to the regular pad. The total incidence of haematoma tended to be lower in the HemCon(r) pad compared to the regular pad group.
Assuntos
Cateterismo Periférico , Quitosana/uso terapêutico , Angiografia Coronária , Artéria Femoral , Hemorragia/prevenção & controle , Técnicas Hemostáticas , Hemostáticos/uso terapêutico , Idoso , Cateterismo Periférico/efeitos adversos , Distribuição de Qui-Quadrado , Angiografia Coronária/efeitos adversos , Feminino , Hematoma/etiologia , Hematoma/prevenção & controle , Hemorragia/sangue , Hemorragia/etiologia , Humanos , Israel , Masculino , Pessoa de Meia-Idade , Pressão , Punções , Fatores de Tempo , Resultado do TratamentoRESUMO
The authors report a 1.5-year-old girl who developed Actinobacillus actinomycetemcomitans (AA) endocarditis involving the pulmonic valve. She had a congenital cardiac abnormality, but no history of dental manipulation. The case illustrates an uncomplicated course with three unique features; the youngest reported infant with endocarditis caused by AA with vegetation on the pulmonic valve. She underwent a benign course with complete recovery. The authors report a 1.5-year-old girl who developed AA endocarditis involving the pulmonic valve. She had a congenital cardiac abnormality, but no history of dental manipulation. The case illustrates an uncomplicated course with three unique features; the youngest reported infant with endocarditis caused by AA with vegetation on the pulmonic valve. She underwent a benign course with complete recovery.