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)

Surgical pathologic features of the tricuspid valve were reviewed in 363 patients who had undergone tricuspid valve replacement at our institution during the period 1963 through 1987. Valves were purely regurgitant in 74%, stenotic and regurgitant in 23%, and purely stenotic in 2%; two valves were neither stenotic nor regurgitant. Among 269 purely insufficient tricuspid valves, the four most common causes were postinflammatory disease (41%), congenital disorder (32%), pulmonary venous hypertension (21%), and infective endocarditis (4%). Of 92 cases of tricuspid stenosis, with or without regurgitation, postinflammatory disease was observed in 92%. Female patients accounted for 66% of the 363 cases, including 84% of those with postinflammatory disease and 64% of those with pulmonary venous hypertension. In contrast, male patients accounted for 73% of cases with endocarditis and 61% with congenital heart disease. Although postinflammatory disease accounted for 53% of the 363 cases, its relative frequency diminished from 79% during 1963 through 1967 to only 24% during 1983 through 1987. This trend may reflect the decreasing incidence of acute rheumatic fever reported in Western countries. During the same time interval, the relative frequency of congenital heart disease as a cause of tricuspid dysfunction increased from 7% to 53%, and it is currently the most common cause in our surgical population. This finding apparently reflects changes in patient referral practices and the development of new operative procedures.
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PMID:Surgical pathology of the tricuspid valve: a study of 363 cases spanning 25 years. 304 34

A most significant life event in the first years of life is a disease, especially if it is of early onset, severe, life threatening, with an uncertain prognosis, and with the necessity of frequent diagnostic and therapeutic interventions. Psychological implications are a significant parts of the illness, not a marginal component; they can affect prognosis and outcome. The authors describe the different psychological implications of an experience of chronic disease in children and adolescents and their families (parents and siblings). Congenital disease (for example congenital heart failure) has a peculiar significance: since it is diagnosed early, it influences mother-infant interactions from the beginning, in a crucial moment of the infant's psychological development; diagnostic and therapeutical interventions are early and frequent; congenital defects determine the strongest guilt feelings in the parents. Some specific psychological aspects can be described: the weakening of the Bodily self, the inhibition of thinking, the theories the child and the family formulates on the disease, the death feelings. Emotional features in children and adolescents with congenital cardiopathy are described: inhibition of emotions, marked anxiety, depressive reaction, with loneliness, low self-esteem and inadequacy, emotional lability, with oscillation between omnipotence and inadequacy; impulsiveness; weakness of self identity; especially in bodily Self. Some psychopathological aspects in children and adolescents with heart transplant and their families are also described. Intellectual level of patients with congenital heart disease is in the normal range, although significantly lower than normal controls. There is a positive correlation between worsening of intellectual functioning and clinical severity of the heart disease; this clinical severity is related both to restrictions in normal daily life activities, and blood oxygen saturation. It is hard to tease apart the role of early physical limitations versus the role of chronic hypoxia, in affecting intellectual development. Some methodological considerations are described, relating to the role of the physician, the psychological support to the children and adolescents and their families, the problem of the shared-cares between main centres and local hospitals, where primary health-care team operates.
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PMID:[Psychopathology of chronic diseases in children and adolescents. Congenital cardiopathies]. 909 31

This report summarizes the multicenter experience with the Thoratec paracorporeal pneumatic ventricular assist device (VAD) (Thoratec Corp., Pleasanton, CA) in small children. Between October 1988 and August 2001, 19 children (11 male, 8 female) with less than 1.3 (mean 1.09, range 0.73-1.29) m2 body surface area (BSA) have been supported with univentricular (9) or biventricular (10) Thoratec VADs in 12 centers in the United States and Germany. Mean patient age was 10 (range 7-14) years, mean weight 31 (range 17-41) kg. Indications for support were end-stage cardiomyopathy in eight patients, myocarditis in three, end-stage congenital heart disease in seven, and transplant graft failure in one patient. Mean duration of support was 43 (range 0-120) days. In patients with cardiomyopathies and myocarditis, survival through discharge occurred in 8 of 11 (72%) patients; however, only 1 of 7 patients with congenital disease survived. Outcome appeared independent of patient size. Neurologic complications were significant and predominant in the congenital disease group. Our experience suggests that the Thoratec VAD can be successfully used in these difficult patients, particularly in children with cardiomyopathies and myocarditis. Congenital disease is associated with increased risk. To reduce thromboembolic risk, we recommend left ventricular as opposed to left atrial inflow cannulation and higher device rates with partial stroke volumes.
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PMID:Thoratec ventricular assist devices in children with less than 1.3 m2 of body surface area. 1465 43

The Marshall-Smith syndrome (MSS) is rare congenital disorder, characterized by a triad of orofacial dysmorphism, failure to thrive, and accelerated osseous maturation. An 8-year-old boy with MSS associated with congenital glaucoma, corneal erosion, laryngomalacia, glossoptosis, choanal stenoses, bilateral peripheral hearing defect, ventriculomegaly, congenital heart disease (atrial septal defect), chronic pulmonary disease, and scoliosis was reported. A tracheostomy with endotracheal tube insertion was performed for his difficult airway. He has longer survival time than those MSS patients hitherto reported. High-resolution chromosome banding and extensive metabolic investigation did not detect any abnormality, except for low blood levels of zinc and thyroxine. Besides, brain atrophy with hypoplastic cerebellum and brainstem, and bilateral hydronephrosis with hydroureter were detected by image studies.
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PMID:Long-term follow-up of Marshall-Smith syndrome: report of one case. 1562 71

Isolated left ventricular noncompaction is a genetically heterogeneous congenital disorder characterized by an altered structure of the myocardial wall. This cardiomyopathy is thought to be due to an arrest of intrauterine compaction of the myocardial fibers in the absence of any other structural heart disease. Noncompaction of the left ventricular myocardium is an uncommon finding and remains frequently overlooked even by experienced echocardiographers. However, a correct diagnosis of noncompaction has important implications due to the possible association with other cardiac abnormalities and/or muscle disorders, progressive left ventricular dysfunction, risk of thromboembolism, and life-threatening arrhythmias. Furthermore, because of the familial association described with ventricular noncompaction, screening with echocardiography of first relatives is recommended. Since echocardiography is the diagnostic technique of choice, missed diagnoses may be due to nonoptimal imaging of the lateral and apical myocardium, and/or insufficient disease awareness by echocardiographers. To increase awareness of left ventricular noncompaction, the present paper reviews embryology, genetics, clinical features and pathophysiology, diagnosis, treatment and prognosis of patients affected by isolated left ventricular noncompaction.
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PMID:[Isolated left ventricular non-compaction]. 1627 52

Polysplenia is a congenital disorder affecting the asymmetric organs, including the heart, lungs, bronchi, liver, stomach, pancreas, intestines, and spleen. Primary manifestations are heterogeneous and can include congenital heart disease, atypical placement of major abdominal organs, biliary atresia, and intestinal malrotation. Knowledge of these congenital abnormalities will enhance patient care. In this report, we present an elderly, asymptomatic individual with polysplenia to highlight the cardinal features and management issues.
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PMID:Polysplenia in an elderly male: diagnostic approaches and review of the literature. 1631 48

Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart failure and arrhythmias are the most prominent. Accordingly, these patients need frequent follow-up by physicians with specific knowledge in the field of congenital heart disease. However, planning of care for this population is difficult, because the number of patients currently living with congenital heart disease is difficult to measure. Birth prevalence estimates vary widely according to different studies, and survival rates have not been well recorded. Consequently, the prevalence of congenital heart disease is unclear, with estimates exceeding the number of patients currently seen in cardiology clinics. New developments continue to influence the size of the population of patients with congenital heart disease. Prenatal screening has led to increased rates of termination of pregnancy. Improved management of complications has changed the time and mode of death caused by congenital heart disease. Several genetic and environmental factors have been shown to be involved in the etiology of congenital heart disease, although this knowledge has not yet led to the implementation of preventative measures. In this Review, we give an overview of the etiology, birth prevalence, current prevalence, mortality, and complications of congenital heart disease.
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PMID:The changing epidemiology of congenital heart disease. 2104 84

Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder of unknown etiology characterized by venous malformations or varicose veins, cutaneous capillary malformation and hypertrophy of soft tissues with limb (usually asymmetric lower extremity) involvement. Peripartum cardiomyopathy (PPCM) is characterized by rapid onset heart failure during the final month of pregnancy or within five months of delivery, in the absence of identifiable risk factors or previous heart disease. The aim of this study was to illustrate the correlation between the KTS and the onset of PPCM in women with twin pregnancies. Our case is a 35-year-old woman, gravida II para I, with KTS, twin pregnancy and PPCM. We can assume that, as the heart of a women with KTS usually works with a low preload reserve due to the widespread venous varicosities, if a significant increase in preload occurs, it may lead to the onset of cardiac dilatation and thus PPCM.
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PMID:Peripartum cardiomyopathy and Klippel-Trenaunay syndrome. 2107 13

Scimitar syndrome is a rare congenital disorder characterized by a partial, or rarely total, unilateral anomalous pulmonary venous return to the inferior vena cava. This anomaly has a distinctive bimodal presentation with the infantile form having a higher incidence, severity and mortality than the adult form, which is usually asymptomatic on diagnosis. We present the case of a 36-year-old-male transferred to our institution due to incidental anomalous vascular findings on contrast enhanced chest tomography while being evaluated for dyspnea on exertion. Patient underwent right and left heart catheterization with evidence of left-to-right shunt secondary to complete anomalous right pulmonary venous return. Patient was referred to a cardiovascular surgeon with expertise in congenital heart disease for definitive surgical correction.
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PMID:Total right pulmonary venous return to the inferior vena cava: a rare variant of Scimitar syndrome. 2273 30

Congenital hypothyroidism caused by thyroid dysgenesis (CHTD) is a common congenital disorder with a birth prevalence of 1 case in 4000 live births, and up to 8% of individuals with CHTD have co-occurring congenital heart disease. Initially we found nine patients with cardiac and thyroid congenital disorders in our cohort of 158 CHTD patients. To enrich for a rare phenotype likely to be genetically simpler, we selected three patients with a ventricular septal defect for molecular studies. Then, to assess whether rare de novo copy number variants and coding mutations in candidate genes are a source of genetic susceptibility, we used a genome-wide single-nucleotide polymorphism array and Sanger sequencing to analyze blood DNA samples from selected patients with co-occurring CHTD a congenital heart disease. We found rare variants in all three patients, and we selected Netrin-1 as the biologically most plausible contributory factor for functional studies. In zebrafish, ntn1a and ntn1b were not expressed in thyroid tissue, but ntn1a was expressed in pharyngeal arch mesenchyme, and ntn1a-deficient embryos displayed defective aortic arch artery formation and abnormal thyroid morphogenesis. The functional activity of the thyroid in ntn1a-deficient larvae was, however, preserved. Phenotypic analysis of affected zebrafish indicates that abnormal thyroid morphogenesis resulted from a lack of proper guidance exerted by the dysplastic vasculature of ntn1a-deficient embryos. Hence, careful phenotyping of patients combined with molecular and functional studies in zebrafish identify Netrin-1 as a potential shared genetic factor for cardiac and thyroid congenital defects.
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PMID:Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis. 2535 84


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