ABSTRACT
Delayed detection of congenital heart diseases in low- and middle-income countries (LMICs) contributes to the poor outcome of infants with cardiac anomalies. Fetal echocardiography (FE) can detect heart defects in-utero as early as the 18th gestational week (GA), giving parents and medical professionals time to prepare for the baby's delivery and appropriate treatment. University College Hospital, Nigeria, is one of the few centres in Nigeria where FE is performed. Objectives: To examine the indications for referral for FE and the diagnoses made in our first four years of performing FE. Methods: FE was performed in the antenatal clinic of the University College Hospital, Ibadan, Nigeria, using the GE Voluson P6 machine with a 2-6-RS probe. Demographic information was obtained from the antenatal clinic records of the women who had FE using a semi-structured questionnaire. FE diagnoses were retrieved from the FE register. Results: A total of 129 women whose records were available were studied. The mean age of the women was 31.7±5.5 years. Forty-two women (32.6%) were referred because of echogenic foci, making this the most common indication for FE. Twenty-nine (22.5%) fetuses had structural heart defects, the most common being Ventricular Septal Defect. Conclusion: There is a need for Obstetricians and Paediatricians to be aware of the indications for fetal echocardiography and refer women appropriately
Subject(s)
Humans , Echocardiography , Anti-Arrhythmia Agents , Echogenic Bowel , Fetal Movement , Heart Defects, CongenitalABSTRACT
Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital cardiac anomaly that can cause myocardial infarction, heart failure and even death in paediatric patients. Only few untreated patients survive till adulthood. Here we present the case of a 28-year-old lady with exertional dyspnoea and chest pain who was diagnosed to have ALCAPA.
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Objective· To investigate the correlation between increased nuchal translucency (NT) thickness and fetal chromosomal abnormalities,severe structure anomalies and other abnormalities,and its value in assessment of fetal prognosis.Methods · Five hundred and eighty-three singleton fetuses with NT ≥ 2.5 mm in the first trimester (11-13+6 week) were retrospectively analyzed,of which 252 had invasive prenatal test for fetal chromosome and genetic tests.They were divided into 5 groups according to the NT thickness,2.5 ～ 2.9 mm,3.0 ～ 3.4 mm,3.5 ～ 4.4 mm,and ≥ 4.5 mm as 1st to 4th group,and cystic hygroma as 5th group.The incidences among groups were analyzed by Cochran-Armitage Trend test.Fisher's exact test was used to compare diversities of NT thickness among the major chromosomal abnormalities.Results · Among the 583 singleton fetuses,59 were diagnosed as chromosomal abnormalities (23.4％,59/252),38 with structure anomalies (6.5％),of which 13 cases with severe cardiac anomalies (2.2％).There were 6 fetal demise,3 inevitable abortion,2 stillborn,94 terminations of pregnancy (8 for personal factors) and 478 live birth,without spontaneous abortions and congenital infections after invasive prenatal test.The differences among the incidences of chromosomal abnormalities,structure anomalies and cardiac anomalies in five groups were statistically significant (P=0.000) and the incidences all increased with fetal NT thickness.The healthy living rates of fetus were 96.5％,81.9％,74.0％,35.6％,and 6.7％ among groups,respectively,and the incidences all decreased with fetal NT thickness (P=0.000).Conclusion· Increased NT thickness is related to fetal chromosomal abnormalities,severe cardiac anomalies and poor pregnant outcome.The incidences of chromosomal abnormalities,structure anomalies,cardiac anomalies and pregnant outcome all increase with fetal NT thickness.In clinical practice,individualized guidance should be conducted according to different thickness of NT.
ABSTRACT
Objective: To investigate the correlation between increased nuchal translucency (NT) thickness and fetal chromosomal abnormalities, severe structure anomalies and other abnormalities, and its value in assessment of fetal prognosis. Methods: Five hundred and eighty-three singleton fetuses with NT ≥ 2.5 mm in the first trimester (11-13+6 week) were retrospectively analyzed, of which 252 had invasive prenatal test for fetal chromosome and genetic tests. They were divided into 5 groups according to the NT thickness, 2.5 ~ 2.9 mm, 3.0 ~ 3.4 mm, 3.5 ~ 4.4 mm, and ≥ 4.5 mm as 1st to 4th group, and cystic hygroma as 5th group. The incidences among groups were analyzed by Cochran-Armitage Trend test. Fisher's exact test was used to compare diversities of NT thickness among the major chromosomal abnormalities. Results: Among the 583 singleton fetuses, 59 were diagnosed as chromosomal abnormalities (23.4%, 59/252), 38 with structure anomalies (6.5%), of which 13 cases with severe cardiac anomalies (2.2%).There were 6 fetal demise, 3 inevitable abortion, 2 stillborn, 94 terminations of pregnancy (8 for personal factors) and 478 live birth, without spontaneous abortions and congenital infections after invasive prenatal test. The differences among the incidences of chromosomal abnormalities, structure anomalies and cardiac anomalies in five groups were statistically significant (P=0.000) and the incidences all increased with fetal NT thickness. The healthy living rates of fetus were 96.5%, 81.9%, 74.0%, 35.6%, and 6.7% among groups, respectively, and the incidences all decreased with fetal NT thickness (P=0.000). Conclusion: Increased NT thickness is related to fetal chromosomal abnormalities, severe cardiac anomalies and poor pregnant outcome. The incidences of chromosomal abnormalities, structure anomalies, cardiac anomalies and pregnant outcome all increase with fetal NT thickness. In clinical practice, individualized guidance should be conducted according to different thickness of NT.
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Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. This rare inherited disorder is characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Awareness of this condition and assosciated complications helps in better follow up and management of these patients.
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Double outlet right ventricle (DORV) and left ventricle hypoplasia are congenital cardiac defects rarely described in the dog. It is characterized by the great vessels (pulmonary artery and aorta) originating from right ventricle, and the left ventricle lacking development. A clinical case of a four months old female Chihuahua puppy, with clinical history of depression, abnormal cardiac sounds and cyanosis is described. Hemogram, radiology and echocardiogram were performed. The patient died suddenly and the postmortem study revealed DORV and left ventricle hypoplasia. The objective of this report is to portray the clinical findings, hemodynamic changes and anatomopathological findings in this dog, to contribute to the knowledge of this congenital defect barely described in veterinary medicine.
El doble tracto de salida del ventrículo derecho (DTSVD) e hipoplasia del ventrículo izquierdo son enfermedades cardiacas congénitas escasamente descritas en el perro, se caracterizan por el origen de los grandes vasos (arteria pulmonar y aórtica) a partir del ventrículo derecho y desarrollo incompleto del ventrículo izquierdo. El caso clínico que se presenta corresponde a un perro, hembra, Chihuahueño, de 4 meses de edad con historia clínica de depresión, cianosis y sonidos cardiacos anormales. Se realizó hemograma, estudio radiográfico de silueta cardiaca y ecocardiograma. El animal murió súbitamente y en el estudio post mortem presentó DTSVD e hipoplasia del ventrículo izquierdo. El objetivo de este trabajo fue describir los hallazgos clínicos, hemodinámicos y anatomopatológicos que se presentaron en el perro, con el fin de contribuir al conocimiento de esta malformación congénita cardiaca escasamente descrita en medicina veterinaria.
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Smith-Magenis syndrome (SMS) is characterized by distinctive facial features, developmental delay, cognitive impairment, and behavioral abnormalities and associated with interstitial deletion of chromosome 17p11.2. We report 2 cases of SMS with tetralogy of Fallot. The first patient was reported having a normal conventional karyotype 7 years ago. However, as she grew up, she showed more compatible findings with SMS in behavior and phenotype. On the second cytogenetic study, interstitial deletion of 17p11.2 was detected by conventional banding technique which had 550 band resolution and it was confirmed by metaphase fluorescence in situ hybridization (FISH) using D17S258 SMS probe (Oncor, Gaithersburg, MD, USA). The second patient showed subtle phenotypic feature except microcephaly and cardiac anomalies was confirmed as SMS by cytogenetic analysis and FISH. We suggest that FISH should be performed not to overlook the submicroscopic deletion when SMS is clinically suspected, even though cytogenetist can not detect any anomalies on the conventional cytogenetics. A confirmatory diagnosis using FISH would be helpful in terms of guiding medical management and leading to proper genetic counseling.
Subject(s)
Humans , Cytogenetic Analysis , Cytogenetics , Diagnosis , Fluorescence , Genetic Counseling , In Situ Hybridization , Karyotype , Metaphase , Microcephaly , Phenotype , Smith-Magenis Syndrome , Tetralogy of FallotABSTRACT
The DiGeorge syndrome is a rare congenital abnormality consisting of aplasia or hypoplasia of the thymus and parathyroid glands resulting from malformation of the third and fourth pharyngeal pouches. This syndrome usually includes congenital cardiac anomalies and abnormal facial features. We experienced a case of congenital cardiac anomaly associated with DiGeorge syndrome. The patient was 1 month old boy weighing 3.5 kg. The congenital cardiac anomalies included ventricular septal defect, atrial septal defect, coactation of aorta, and patent ductus arteriosus. We performed one-stage operation with two separate incisions for these cardiac anomalies. Postoperative course was uneventful and the patient at 6 months of follow up is doing well.
Subject(s)
Humans , Infant, Newborn , Male , Aorta , Congenital Abnormalities , DiGeorge Syndrome , Ductus Arteriosus, Patent , Follow-Up Studies , Heart Septal Defects, Atrial , Heart Septal Defects, Ventricular , Parathyroid Glands , Thymus GlandABSTRACT
In the past ten years, 52 patients with double-chambered right ventricle (DCRV) were operated on in Xijing Hospital. They constituted 2.2% (52/1881) of all patients with congenital heart diseases. Of them, there were 32 males and 20 females, whose ages ranged from 4.5 to 30 years old. In one patient there was pure DCRV, and the remaining 51 patients DCRV was associated with other congenital cardiac anomalies, in which VSD was the most common (50), followed in order by pulmonary stenosis (6), aortic valve prolapse (4), atrial septal defect (2), and subaortic stenosis (1). The repair of DCRV and other intracardiac defects was done through the right ventricolotomy in 47 cases and through the right ventricolotomy plus atriotomy in 2 cases. In another 2 cases the operation was done via the right atriotomy and 1 case pulmonary arteriotomy, and only VSDs were closed, but DCRVs were missed. The major postoperative complications included cardiac arrhythmia (11) and low output syndrome (8). Three patients died, with the operative mortality of 5.8%. In this series, according to characteristics of the anomalous muscle bundle and its resulting obstruction, we divided 52 case DCRVs into two types: fibromuscular diaphragmatic type (24 cases, 44.7%) and muscular bundle-gap type (28 cases, 55.7%). In both types, there were not only hypertrophied anmalous muscle bundles on the septal side, but also hypertro-phied ventricoinfundibulum fold on the parietal side. In a few cases, the ventricoinfundibulum fold was more hypertrophic than the anomalous muscle bundle on the septal side.