Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of trisomy 22 liveborn female baby with multiple congenital anomalies is described. Physical manifestations included failure to thrive, hypotonia, pre-auricular sinus, low set ears, hypertelorism, posterior low hair line, micrognathia, cleft palate, congenital heart disease, imperforated anus with anovulvar fistula, contracted pelvis and bilateral rocker-bottom feet. The infant died at two months of age. Cases of trisomy 22 usually present with many severe malformations, and they rarely survive to term. A review of the literature is presented to delineate this chromosome disorder.
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PMID:Liveborn trisomy 22: report of one case. 151 17

In past decades, most individuals with Down syndrome were usually not afforded adequate medical care. Many children with Down syndrome were institutionalized and they were often deprived of all but the most elementary medical services. Fortunately, there have been major improvements in the health care provision during the past 20 years. Professionals who are providing services to persons with Down syndrome need to be aware of those clinical conditions that are more often observed in this population. Certain congenital anomalies (congenital cataracts, anomalies of the gastrointestinal tract, and congenital heart disease) often require immediate attention, as some of them may be life threatening. During the subsequent childhood years a number of clinical conditions and disorders such as infectious diseases, increased nutritional intake, periodontitis, seizure disorders, sleep apnea, visual impairment, audiologic deficits, thyroid dysfunction, and skeletal problems usually occur at a higher prevalence. During adolescence specific aspects of maturation and certain health issues (skin infections, thyroid disorders, increased weight gain, and others) as well as mental health concerns need to be taken into consideration. Similar concerns may also be observed during adulthood which in addition is often marked by accelerated aging and the threat of Alzheimer disease in some persons with Down syndrome. Special attention needs to be paid to these disorders and conditions during the lifetime of a person with Down syndrome. Appropriate medical care should be provided to and no form of treatment should be withheld from a person with Down syndrome that would be given unhesitatingly to an individual without this chromosome disorder.
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PMID:Clinical aspects of Down syndrome from infancy to adulthood. 214 74

Thirty-two fetuses were diagnosed as having congenital heart disease (CHD). The major indications for level II echocardiography other than suspected cardiac abnormalities were fetal malformations, nonimmune hydrops and cardiac arrhythmia. Only three patients had a previous history of fetal CHD. No false-abnormal diagnosis of severe CHD was made. Aortic arch anomalies represented the major diagnostic problem among the six correct but incomplete diagnoses. Sixty-one percent of the fetuses were growth retarded, thus confirming the severity of their CHD. Chromosomal anomalies and extracardiac malformations were associated in 19% and 44% of the fetuses, respectively. Obstetric management and fetal prognosis in cases of extracardiac malformations were greatly influenced by the diagnosis of CHD. The poorest perinatal outcome was associated with heart failure. The only intrauterine deaths occurred in that group, and only one neonate survived. The outcome was more favorable in neonates without other malformations or heart failure. Four of ten (40%) of those neonates survived, while the overall perinatal survival rate was 24%.
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PMID:Prenatal diagnosis and management of congenital heart disease. 272 34

In a 4-year period, 83 fetuses have been noted to have an abnormal fetal heart position within the thorax on fetal echocardiography. In 55 cases where the heart lay in the right chest, this was due to the presence of a left-sided diaphragmatic hernia; in one case, the heart was abnormally far into the left chest because of a left-sided diaphragmatic hernia. Of the remaining 27 cases, the heart lay in the right chest in 16 cases. In seven of those 16, there was a congenital heart malformation; in six, there were lung anomalies; a hiatus hernia was present in one; both congenital heart disease and lung abnormality were present in one and one fetus had isolated dextrocardia. In nine cases, the heart lay in the center of the chest and in three, the heart lay further to the left than normal. Congenital heart disease was found in nine of these 12. Chromosomal anomalies were found in four of the 27 cases with an abnormal heart position but an intact diaphragm. In summary, it is important to be familiar with the normal cardiac orientation within the thorax and to investigate abnormalities of position. A diaphragmatic hernia will be the most common underlying cause but, where the diaphragm is intact, other explanations must be sought in order to counsel correctly or plan appropriate perinatal management. Lung disorders, congenital heart disease and chromosomal anomalies will be the principal differential diagnoses.
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PMID:Intrathoracic cardiac position in the fetus. 1279 99

Trisomy 22 is the third most common autosomal trisomy occurring in about 0.4% of all clinically recognized pregnancies. Complete non-mosaic trisomy 22 is extremely rare in live births. Most affected children die before one year of age. To date, only 29 liveborn cases have been reported and none has carried an additional genetic lesion. In this report, we describe the clinical presentation, cytogenetic, and cytogenomic findings in a liveborn female with complete non-mosaic trisomy 22 as well as a paternally inherited, balanced reciprocal chromosomal rearrangement t(4;6)(q33;q23.3). The proband manifested features commonly seen in individuals with non-mosaic trisomy 22 such as intrauterine growth retardation (IUGR), single umbilical artery, cranial abnormalities, short neck, cleft lip and palate, dysmorphic ears, hypoplastic nipples, digital malformation, congenital heart defects, dysplastic kidneys, and genital anomalies. In addition, she had lobar holoprosencephaly, aqueductal stenosis, and limb and eye problems that have not been associated with complete trisomy 22 in previous reports. She died at 35 days of age of complex heart disease and renal failure. We are hereby expanding the cytogenetic and clinical spectrum of this rare chromosome disorder. Clinical features of liveborn children with non-mosaic trisomy 22 are reviewed and compared to those in our proband. The impact of genomic content in relation to the survival of trisomies in humans is also discussed.
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PMID:Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature. 2525 7

Down syndrome is a common chromosome disorder affecting all body systems. This creates unique physiologic concerns that can affect safety during anesthesia and surgery. Little consensus exists, however, on the best way to evaluate children with Down syndrome in preparation for surgery. We review a number of salient topics affecting these children in the perioperative period, including cervical spine instability, cardiovascular abnormalities, pulmonary hypertension, upper airway obstruction, hematologic disturbances, prematurity, low birth weight, and the use of supplements and alternative therapies. Recommendations include obtaining a complete blood count to detect an increased risk for bleeding or stroke, and cardiology evaluation to identify patients with pulmonary hypertension, as well as undiagnosed or residual heart disease. Pediatric cardiac anesthesiologists and intensivists should be involved as needed. The potential for cervical spine instability should be considered, and the anesthesiologist may wish to have several options available both for the medications and equipment used. The child's family should always be asked if he or she is on any nutritional supplements, as some products marketed to families may have secondary effects such as inhibition of platelet function. Using this evaluation in presurgical planning will allow physicians to better consider the individual circumstances for their patients with Down syndrome. Our goal was to optimize patient safety by choosing the most appropriate setting and perioperative personnel, and to mitigate those risk factors amenable to intervention.
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PMID:Preoperative evaluation and comprehensive risk assessment for children with Down syndrome. 2674 40

Antenatal diagnosis of congenital heart disease (CHD) is still low even though screening was first introduced over 25 years ago. The purpose of our study was to determine the efficacy of a second-trimester prenatal ultrasonographic method of screening for CHD.From September 2012 to September 2013, the length and width of the fetal ductus venosus were measured sonographically in 1006 singleton fetuses, and the ratio of length to width was calculated. The accuracy of each fetal measurement and Doppler ultrasonography were determined. The standard fetal echocardiographic evaluations including 2-dimensional gray-scale imaging, color, and Doppler color flow mapping were performed. The transducer was aligned to the long axis of the fetal trunk to view the ductus venosus in its full length, including the inlet (isthmus) and outlet portions of the vessel. The diameters of the vessel inner wall and mid-point of the ductus venosus were measured using calipers. All scans and fetal measurements were conducted by a registered sonographer with more than 20 years of perinatal ultrasound screening experience.Of the 1006 singleton fetuses between 19 and 28 weeks' gestation, 36 had CHD. The ductus venosus length/width ratio (DVR) for the first CHD screening was extremely sensitive at 88.90%, with a specificity of 99.10% for the cardiac abnormalities included in this study. Chromosomal anomalies accompanied CHD in 0.4% (4/1006) of all cases and 11.11% (4/36) of the CHD cases.The DVR differed significantly between fetuses with CHD and normal fetuses during the second trimester. Careful assessment of the ratio should be a part of the sonographic examination of every fetus. In the case of a small DVR, advanced echocardiography and karyotype analysis should be performed. The ratio is a helpful tool for screening CHD abnormalities prenatally in the Chinese population.
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PMID:Length to width ratio of the ductus venosus in simple screening for fetal congenital heart diseases in the second trimester. 2768 31

Regular audit of results of prenatal screening for congenital heart disease (CHD) is crucial to ensure reliable prenatal diagnosis. We aimed to assess the accuracy of prenatal diagnosis of major CHD between 1996 and 2013. During the study period, prenatal detection of major CHD improved from 4.5% to 71.0% (p<.001). Prenatal diagnoses on 628 live born children and terminated pregnancies were compared with postnatal findings or autopsy reports. The proportion of correct diagnoses increased throughout the study period from 42.9% in 1996 and reached 88.2% in 2013 (p<.001). A total of 32 foetuses with suspected major CHD were terminated though no major CHD was found at autopsy. In these pregnancies, termination was mainly performed due to other anomalies in the foetus.Along with improved detection of major CHD, the validity of a prenatal diagnosis is increasing. No cases of misinterpreted major CHD resulted in the termination of a healthy foetus in this study.Impact statementWhat is already known on this subject? Prenatal diagnosis of isolated congenital heart disease (CHD) correlates well with lesions found during autopsy performed in terminated foetuses. Few studies have assessed the accuracy of prenatal diagnosis of major CHD in live born children, cases with associated anomalies and the time trend in validity.What the results of this study add? This study illustrates that the validity of prenatal diagnosis of major CHD is increasing. Prenatal diagnoses in terminated pregnancies as well as in live born children is high except for coarctation of the aorta and atrioventricular septal defects. Chromosomal anomalies are associated with lower accuracy of prenatal diagnosis.What the implications are of these findings for clinical practice and/or further research? Prenatal diagnosis is an accurate tool for detecting major CHD. Misinterpretation has not led to the termination of a healthy foetus; however, this study illustrates that vigilant care should be placed on the cardiac evaluation when termination is considered due to the cardiac defect.
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PMID:The accuracy of prenatal diagnosis of major congenital heart disease is increasing. 3145 24

Tracheal rings (TR) are rare, congenital cartilaginous defect of the upper airway and are usually due to complete or near complete circumferential cartilaginous tracheal rings, with variable degrees of tracheal stenosis (TS) and shortening. Chromosomal anomalies like trisomy 21 are characteristically associated with a wide range of upper airway anomalies including TS and congenital heart disease (CHD). However, the overall prevalence of severe forms of TS is rare and reported in 1.2% of all CHD patients. Herein, we present a rare association of severe TS due to complete tracheal rings in a trisomy 21 patient with CHD and the challenges in the management.
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PMID:Tracheal Stenosis and Congenital Heart Disease in Trisomy 21. 3148 69