RESUMO
Hereditary Hemorrhagic Telangiectasia (HHT), commonly known as Osler-Weber-Rendu disease, is an autosomal dominant multisystemic vascular disease associated with approximately 70% of cases of pulmonary arteriovenous malformations (PAVMs). Prenatal cases of PAVMs typically present with pulmonary vein dilatation on ultrasonography. This study presents a prenatal diagnosis of PAVMs with enlarged right pulmonary vein, cardiomegaly, cystic-appearing areas in the right lung and subsequent confirmation of Osler-Weber-Rendu syndrome using autopsy and whole exom sequencing.
Assuntos
Malformações Arteriovenosas , Artéria Pulmonar , Veias Pulmonares , Telangiectasia Hemorrágica Hereditária , Ultrassonografia Pré-Natal , Humanos , Telangiectasia Hemorrágica Hereditária/diagnóstico por imagem , Telangiectasia Hemorrágica Hereditária/complicações , Feminino , Ultrassonografia Pré-Natal/métodos , Veias Pulmonares/anormalidades , Veias Pulmonares/diagnóstico por imagem , Gravidez , Adulto , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/anormalidades , Malformações Arteriovenosas/diagnóstico por imagem , Recém-Nascido , Fístula ArteriovenosaRESUMO
AIM: Fetal cardiac left ventricular function in pregnant women with pregestational or gestational diabetes mellitus was investigated by exploring fetal myocardial performance index (MPI) and E wave/A wave peak velocity (E/A) ratio. METHODS: Seventy pregnant women with either pregestational or gestational diabetes mellitus and with no other systemic or pregnancy related disorders were compared with 70 gestational age matched healthy controls by means of fetal left ventricular MPI and E/A ratio. Opening and closing clicks of the mitral and aortic valves were used to define the three time periods: ejection time (ET), isovolumetric contraction time (ICT) and isovolumetric relaxation time (IRT), which were employed in the calculation of MPI (MPI = [ICT + IRT]/ET). Statistical analyses were conducted using receiver operating characteristic analysis and independent two-sample t, Mann-Whitney U and chi-square tests. RESULTS: Fetal left ventricular MPI values were significantly higher in the diabetic group compared with controls (0.56 ± 0.09 vs 0.36 ± 0.04, P < 0.001), whereas E/A ratio was lower (0.66 ± 0.11 vs 0.69 ± 0.09, P = 0.049). The adverse perinatal outcome rate was also higher in the diabetic group. Receiver operating characteristic analysis revealed > 0.39 as the optimal cut-off level for MPI in perinatal adverse outcome prediction (sensitivity: 90.9%, specificity: 47.7%, area under the curve: 0.690, 95% confidence interval: 0.598-0.782, P < 0.001). CONCLUSIONS: We conclude that fetuses of diabetic mothers have significant left ventricular systolic and diastolic dysfunction. MPI may be used in the prediction of adverse perinatal outcome in diabetic pregnancies.
Assuntos
Complicações do Diabetes/embriologia , Diabetes Gestacional/fisiopatologia , Coração Fetal/fisiopatologia , Adulto , Complicações do Diabetes/fisiopatologia , Ecocardiografia Doppler , Feminino , Coração Fetal/diagnóstico por imagem , Idade Gestacional , Humanos , Contração Miocárdica , Gravidez , Ultrassonografia Pré-Natal , Função Ventricular EsquerdaRESUMO
OBJECTIVE: To investigate Apo A-1 and Apo B-100 levels and Apo B-100/Apo A-1 ratios in preeclamptic (PE) patients. MATERIALS AND METHODS: Forty-eight PE and 48 without PE patients (healthy pregnancies) matched for gestational age were included. Maternal age, parity, gestational age at delivery, obstetrical complications including intrauterine growth restriction (IUGR) and gestational diabetes mellitus (GDM), serum Apo A-1 and Apo B-100 levels, and the Apo B-100/Apo A-1 ratio were compared. RESULTS: Preeclamptic patients had significantly lower Apo A-1 levels (167.07mg/dl±14.61mg/dl vs. 244.37mg/dl±20.84mg/dl, p<0.001), higher Apo B-100/Apo A-1 ratio (0.63±0.07 vs. 0.42±0.05, p<0.001), but similar Apo B-100 levels (104.84mg/dl±7.05mg/dl vs. 102.39mg/dl±8.08mg/dl, p=0.118). Mean Apo A-1 and Apo B-100 levels and the Apo B-100/Apo A-1 ratio were similar in patients with severe PE, HELLP syndrome, IUGR, and patients requiring antihypertensive therapy compared to PE patients who did not have these complications (p>0.05). Apo A-1 levels had the best accuracy followed by the Apo B-100/Apo A-1 ratio in patients with PE. CONCLUSION: Apo A-1 and the Apo B-100/Apo A-1 ratio may be useful markers in patients with PE. Further studies are required to elucidate this issue.
Assuntos
Apolipoproteína A-I/sangue , Apolipoproteína B-100/sangue , Pré-Eclâmpsia/diagnóstico , Adulto , Biomarcadores/sangue , Estudos de Casos e Controles , Feminino , Humanos , Pré-Eclâmpsia/sangue , Gravidez , Sensibilidade e EspecificidadeRESUMO
Multiple Endocrine Neoplasia Type 1 (MEN1) or Wermer's syndrome is a rare hereditary endocrine syndrome with high penetrance caused by mutations in MEN1 tumor suppressor gene. MEN1 is characterized by hyperplasia or tumoral enlargement in a number of endocrine organs (parathyroid glands, pancreas, pituitary gland, adrenal gland) and it could be hormonally active or inactive. MEN1 is a significant cause of morbidity due to hormone secretion and mass effect. Since it is a rare condition, there are no guidelines with respect to the follow-up of pregnant women with MEN1. Herein, we aimed to present the diagnosis and gestational follow-up of a 29-year-old pregnant with MEN1 syndrome.
Assuntos
Neoplasia Endócrina Múltipla Tipo 1/terapia , Complicações Neoplásicas na Gravidez/terapia , Adulto , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Humanos , Nascido Vivo , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasia Endócrina Múltipla Tipo 1/genética , Mutação , Fenótipo , Gravidez , Complicações Neoplásicas na Gravidez/diagnóstico , Complicações Neoplásicas na Gravidez/genética , Proteínas Proto-Oncogênicas/genética , Resultado do TratamentoRESUMO
OBJECTIVE: We aimed to investigate P wave characteristics in pregnant women with and without intrahepatic cholestasis of pregnancy (ICP). METHODS: In this case-control study, including 59 pregnant women with intrahepatic cholestasis and 28 with healthy uncomplicated pregnancies, electrocardiographic maximum (Pmax) and minimum (Pmin) P-wave durations and P-wave dispersion (Pd) parameters were investigated. RESULTS: While Pmin and Pd values were significantly lower in women both with mild and severe ICP when compared to healthy pregnant women (p < 0.001), there was no significant difference between mild and severe disease groups. CONCLUSION: Intrahepatic cholestasis predisposes to cardiovascular complications. P-wave durations and Pd constitute a recent contribution to the field of noninvasive electrocardiology. Our data clearly demonstrated that these parameters were significantly altered in pregnant women with ICP when compared to the normal ones. This important association can be used to screen for women with an increased risk to better target counseling on lifestyle modifications and to closer follow-up and management of women with a history of ICP.
Assuntos
Doenças Cardiovasculares/diagnóstico , Colestase Intra-Hepática/fisiopatologia , Eletrocardiografia , Complicações Cardiovasculares na Gravidez/diagnóstico , Complicações na Gravidez/fisiopatologia , Adulto , Doenças Cardiovasculares/etiologia , Estudos de Casos e Controles , Feminino , Seguimentos , Humanos , Gravidez , Complicações Cardiovasculares na Gravidez/etiologia , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Índice de Gravidade de DoençaRESUMO
OBJECTIVE: The purpose of this research was to study P wave parameters to determine the association between preeclampsia and future cardiovascular risk and to study the possible correlation between P waves and severity of preeclampsia. STUDY DESIGN: In this case-control study 58 pregnant women with preeclampsia and 30 normal pregnant women were compared by measuring maximum and minimum P-wave durations and P-wave dispersion (Pd) in the late third trimester. RESULTS: Minimum P wave values were lower and Pd values were higher, both significantly, in the preeclampsia groups than in the control group. In addition, the Pd values of the severe preeclampsia group were higher compared to that of the mild preeclampsia group. CONCLUSION: Preeclampsia predisposes the patient to future cardiovascular complications including atrial or ventricular arrhythmias, but validated tools to assess the risks are yet not available. P-wave duration and Pd constitute a recent contribution to the field of noninvasive electrocardiology. Our data clearly demonstrated that minimum P wave and Pd values were significantly altered in preeclamptic pregnant women when compared to the controls. This important association can be used to screen women for increased risk in order to better target counseling regardinglifestyle modifications and to follow up and manage women with a history of preeclampsia more closely.