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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder reflecting abnormalities in the structure and function of motile cilia and flagella, causing impairment of mucociliary clearance, left-right body asymmetry, and sperm motility. Clinical manifestations include respiratory distress in term neonates, recurrent otosinopulmonary infections, bronchiectasis, situs inversus and/or heterotaxy, and male infertility. Genetic discoveries are emerging from family-based linkage studies and from testing candidate genes. Mutations in 2 genes, DNAI1 and DNAH5, frequently cause PCD as an autosomal recessive disorder. A clinical genetic test has been recently established for DNAI1 and DNAH5, which involves sequencing 9 exons that harbor the most common mutations. This approach will identify at least one mutation in these 2 genes in approximately 25% of PCD patients. If biallelic mutations are identified, the test is diagnostic. If only one mutation is identified, the full gene may be sequenced to search for a trans-allelic mutation. As more disease-causing gene mutations are identified, broader genetic screening panels will further identify patients with PCD. Ongoing investigations are beginning to identify genetic mutations in novel clinical phenotypes for PCD, such as congenital heart disease and male infertility, and new associations are being established between 'ciliary' genetic mutations and clinical phenotypes.
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PMID:Genetic causes of bronchiectasis: primary ciliary dyskinesia. 1753 28

The incidence of intracranial haemorrhage (ICH) in newborns with haemophilia is unknown. Retrospective studies, estimate the incidence to be around 3%. Because of this uncertainty, we analysed the largest inpatient database in the USA, the Nationwide Inpatient Sample (NIS), to better approximate the incidence of ICH in these patients. ICD-9 coding data were used to reference NIS entries of haemophilia (A, B or C) or von Willebrand's disease (VWD), with intraventricular (IVH), subarachnoid (SAH), subdural (SDH) and/or intraparenchymal (IPH) haemorrhage. Of 9.2 x 10(7) hospitalizations from 1988 to 2001, 11% or 1 x 10(7) were newborns. Of these, 0.00527%, or 580 were diagnosed with haemophilia or VWD. Twenty of 580, or 3.4%, experienced an ICH. The ICH rate in non-haemophilic newborns was 0.11% (P value: <0.0001). The rate of ICH among term haemophilic newborns without sepsis, respiratory distress syndrome (RDS) or congenital heart disease (CHD), delivered without vacuum assist was 1.9%. One death occurred on the day of birth in a term neonate with haemophilia C. The mean length of stay for ICH patients with haemophilia was 28 days (median 28, range: 6-143 days). The mean hospital charges for the group were 102,072 dollars (median 67,551 dollars, range: 9624-467,132 dollars). These data add credence to the estimates of ICH in haemophilic newborns and may guide treatment strategies around the time of their birth. Further, uncomplicated delivery of term, otherwise healthy haemophilic newborns may carry a lesser risk of ICH.
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PMID:The incidence and outcome of intracranial haemorrhage in newborns with haemophilia: analysis of the Nationwide Inpatient Sample database. 1761 May 51

Difficulty breathing is a common presenting complaint for infants in the emergency department (ED). Periodic breathing, respiratory or systemic infection, and congenital heart disease are common diagnoses in this age group. We report the case of a male neonate presenting to the ED on multiple occasions with respiratory distress and recurrent pleural effusions of unique origin. Unlike adult pleural effusions, pediatric effusions are most commonly exudative and of infectious origin. In neonates, acquired chylothorax secondary to surgery or trauma is the most common cause of symptomatic pleural effusions. Congenital chylothorax is a rare entity that has not been presented in the emergency medicine literature. This case illustrates the extremely rare ED presentation of congenital chylothorax and outlines an approach to pediatric pleural effusions.
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PMID:Recurrent pleural effusions in a neonate. 1821 10

Failure of the ductus arteriosus to close within 48-96 hours of postnatal age results in a left to right shunt across the ductus and overloading of the pulmonary circulation. This is more likely to happen in premature neonates with respiratory distress syndrome. Deterioration in the respiratory status on day 3-4 in a ventilated neonate and unexplained metabolic acidosis may be the earliest indicators of a patent ductus arteriosus (PDA). Indomethacin is the main stay of medical management of PDA in preterm neonates. Guidelines for administration of indomethacin have been described in the protocol. Restricted fluid therapy may be beneficial in the prevention of PDA in preterm neonates. Presence of PDA in a term neonate should be investigated to rule out an underlying congenital heart disease.
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PMID:Patent ductus arteriosus in preterm neonates. 1837 98

Crossed pulmonary arteries are due to an anomalous origin of both pulmonary arteries from the main pulmonary trunk. This anatomy is often associated with other congenital cardiac and extracardiac diseases. We report two neonates with complex congenital heart disease who had this disorder, which was detected during cardiac computed tomography (CT) with three-dimensional reconstruction but not during echocardiography or angiography. The first patient was a 3-day-old male neonate who had tachypnea and feeding problems since birth. Cardiac CT showed crossed pulmonary arteries, type B interruption of the aortic arch, a ventricular septal defect, and a large patent ductus arteriosus. He received an emergency T-colostomy at 3 days of age because of severe bowel distention. Low-type imperforated anus was diagnosed. His postoperative course was complicated with fluctuated saturation, seizure, hypocalcemia, hyperphosphatemia, and sepsis. Also found were cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia, and a variable deletion on chromosome 22q11 (CATCH 22 disorder). Because of his poor prognosis, the patient was transferred to another hospital on day 16 for further care, at the family's request. The other patient was a 5-day-old female neonate who had a heart murmur since birth. Cardiac CT showed crossed pulmonary arteries, truncus arteriosus, type A interruption of the aortic arch, a ventricular septal defect, an atrial septal defect, and a large patent ductus arteriosus. She received complete surgical correction, including division of the patent ductus arteriosus and repair of the other defects. Intermittent respiratory distress and decreased blood pressure complicated her postoperative course, and she died on the eighth day after surgery. Crossed pulmonary arteries complicated accurate interpretation of two-dimensional echocardiographs of the great vessels, as well as the course and location of catheters during cardiac catheterization. Three-dimensional CT provided a noninvasive approach to clearly recognize these malformations and the related anatomic structures. This information is important in planning and performing surgery in neonates with crossed pulmonary arteries.
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PMID:Crossed pulmonary arteries: report of two cases with emphasis on three-dimensional helical computed tomographic imaging. 1840 Jun 13

Some patients with obstructive sleep apnoea syndrome (OSAS; respiratory distress index (RDI) of >5 events.h(-1)) experience residual excessive daytime subjective sleepiness (Epworth Sleepiness Scale (ESS) score of >10), despite adequate use of continuous positive airway pressure (CPAP) therapy. The aim of the present study was to identify clinical and polysomnographic predictors of this sleepiness. Clinical and polysomnographic variables and ESS score were evaluated in 208 OSAS patients with an ESS score of >10 before (initial assessment) and after > or =6 months of adequate (> or =4 h.day(-1)) CPAP use. Following CPAP treatment, 114 (55%) patients showed an abnormal ESS score (>10; CPAP nonresponders), whereas 94 (45%) showed a normal ESS score (<11; CPAP responders). Of the CPAP responders, none had a history of depression, whereas the converse was true for 38.8% of CPAP nonresponders. In addition, multivariate logistic regression analysis revealed that the independent predictors of residual excessive daytime sleepiness following CPAP therapy were a history of diabetes and heart disease, and a higher ESS score and lower RDI on initial assessment. In conclusion, predictors of residual excessive sleepiness in adequately CPAP-treated OSAS were a history of depression, diabetes and heart disease, and a higher ESS score and lower RDI on initial assessment.
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PMID:Predictors of residual sleepiness in adequately treated obstructive sleep apnoea patients. 1935 51

A case of a 2-day-old newborn with congenital heart disease, pulmonary atresia and ventricular septal defect is described. The Blalock-Taussig shunt was created 6 days after birth. After the procedure, the newborn developed symptoms of increased pulmonary blood flow and respiratory distress. We decided to close one of the major aortopulmonary collateral arteries with the Gianturco coil on the 41st day after birth, however the results were not satisfactory. On the 66th day of infant life (by that time the patient weighted 3 kg), another procedure with the Amplatzer vascular plug was performed. This procedure was successful. After a few days the infant was discharged from hospital.
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PMID:[Closure of major aorto-pulmonary collateral artery with the Amplatzer vascular plug in an infant with pulmonary atresia and ventricular septal defect - a difficult therapeutic problem]. 1949 56

Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate(dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media)reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease),reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.
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PMID:Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. 1960 28

Cardiac troponin represents a sensitive and specific marker of ischemic myocardial damage in adult and neonatal populations. Cardiac function in neonates could be influenced by the severity of respiratory distress and its ventilatory management. This short review summarizes the experimental and clinical evidence regarding the role of cardiac troponin in assessment of cardiac function, in following findings: neonatal intensive care, respiratory distress syndrome, asphyxia, congenital heart disease and post cardiac surgery.
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PMID:Troponin in newborns and pediatric patients. 1966 92

Total anomalous venous drainage is a rare congenital cardiac defect seen in 1% of the population; there is usually a concomitant atrial septal defect. We discuss such a diagnostic challenge in a patient who presented on a number of occasions with acute respiratory distress and haemoptysis. True understanding of her underlying congenital heart disease was not appreciated until review in a congenital heart disease clinic - in which she presented for prepregnancy counselling. She was found to have a stricture at the site of anastomosis of the common chamber with the left atrium, resulting in pulmonary venous hypertension leading to acute presentation of pulmonary haemorrhages. She underwent successful full balloon dilatation of the site, leading to full recovery. Most patients are diagnosed at birth and undergo surgical repair. The outcome is good, and historically it has been regarded that it is unusual for them to have long-term complications, although dysrhythmias remain a recognized long-term complication. Surgery for total anomalous pulmonary venous drainage is nevertheless a palliation, and it is vital that the possible role of late complications is considered in all cases.
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PMID:Late complication of total anomalous pulmonary venous drainage in an adult: 'a diagnostic challenge'. 1978 90


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