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

Thirty-seven patients with ventricular tachyarrhythmias refractory to antiarrhythmic drug treatment, guided by electrophysiological testing, were submitted to implantation of a cardioverter-defibrillator by the transvenous technique. Mean age was 55 +/- 14 years and the underlying heart disease was coronary heart disease in 24 patients, cardiomyopathy or other etiologies in 11 patients. In 2 patients ventricular arrhythmias were idiopathic. Left ventricular ejection fraction was < or equal to 40% in 65% of the patients. The following devices were implanted: CPI Ventak P in 2 patients, Ventak P2 in 9 patients, Ventak PRx in 9 patients, Ventak PRxII in 2 patients, Telectronics Guardian ATP III 4215 in 9 patients, Siemens Siecure in 5 patients, Medtronic Jewel PCD in 1 patient. At implantation defibrillation threshold was lower with biphasic shocks than with monophasic shocks (17.0 +/- 3.2 vs 20.9 +/- 3.8 J, p < 0.003) and the need for subcutaneous patches was lower when biphasic shocks were employed. Operative and perioperative mortality were 0% and no significant complications were observed. During the follow-up (16 +/- 11 months) 35% of the patients had appropriate shocks and 93% of the patients with antitachycardia pacing availability (n = 15) had effective antitachycardia pacing interventions. The following complications were observed: lead failure in 4 patients (3 insulation breaks and 1 elongation for stretching), late lead dislodgement in 2 patients, lead recall in 1 patient, all of which required reintervention. Inappropriate shocks occurred in 30% of the patients and were related to lead failure, supraventricular arrhythmias or alternating current interference. During the follow-up one patient died of sudden death and one was submitted to heart transplantation. In conclusion, implantation of a cardioverter-defibrillator by the transvenous technique is a procedure relatively free from complications. During the follow-up lead failure appears to be one of the most relevant complications. Antitachycardia pacing allows effective termination of ventricular tachycardias without cardioversion, with a better compliance.
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PMID:[Transvenous cardioverter-defibrillators: clinical experience at implantation and follow-up]. 864 Aug 50

Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal recessive disorder. Children with SLOS present with specific facial dysmorphism and have multiple congenital anomalies including cleft palate, congenital heart disease, genitourinary anomalies, and limb abnormalities. They also manifest severe failure to thrive and mental retardation. A metabolic defect at the final step in the cholesterol biosynthetic pathway has been described in SLOS patients. This defect results in markedly reduced cholesterol levels and abnormal accumulation of cholesterol precursors, particularly 7-dehydrocholesterol. This newly described metabolic defect in humans is one of only a few metabolic errors known to cause multiple birth defects. The biochemical profile of reduced plasma cholesterol levels in association with markedly elevated levels of the cholesterol precursor 7-dehydrocholesterol is now used to confirm the diagnosis of SLOS, which was formerly made on purely clinical grounds. This biochemical abnormality has been confirmed in dozens of patients with SLOS in both the United States and Europe. The severe cholesterol deficiency seen in these patients has multiple effects on health and early childhood development, because cholesterol is an essential component of many cell functions, which explains many of the clinical findings seen in SLOS.
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PMID:Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. 877 24

We present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, tracheo-esophageal fistula/esophageal atresia and cleft palate. The most frequent anomalies other than PST were renal defects (100%) such as renal agenesis and dysplasia, imperforate anus (60%), central nervous system anomalies (60%) and preaxial upper limb defects (40%). Cardiovascular defects (atrial septal defect, double aortic arch with vascular ring) were noted in only one case. The surviving patients (3/5) had postnatal growth failure and mental retardation. Our 5 PST patients are compared to 16 well-documented cases from the literature. The overall incidence of various extragenital abnormalities were: renal (90%), mental retardation (60%), imperforate anus (33%), central nervous system (CNS) anomalies (29%), vertebral defects (29%), preaxial limb defects (24%) and congenital heart disease (19%). PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system. PST may be a localized field defect involving the genitourinary system; however, the wide variety of more distant defects noted in our series and the literature would raise doubt about that assumption. The high frequency of growth deficiency and mental retardation has also not been given due respect as accompanying problems associated with PST.
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PMID:Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature. 884 15

Ellis van Creveld syndrome (EVC) is an autosomal recessive disorder which has previously been mapped to human chromosome 4p16.1. This disorder is characterized by disproportionate dwarfism, polydactyly, cleft palate, natal teeth, and congenital heart disease. The MSX1 homeobox gene also maps to the 4p16.1 region. Msx gene transcripts in the mouse embryo are known to be involved in pattern formation of the developing limb bud and craniofacial bones. Thus, on the basis of both map location and known gene function, MSX1 was an excellent candidate as the causative gene for EVC. Nonetheless, direct DNA sequencing of both exons of the MSX1 gene in five affected individuals segregating with the EVC phenotype, as well as those of two obligate carriers, revealed no mutations in the coding region of the gene.
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PMID:Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. 888 77

Frontonasal malformation (FNM) is a developmental field defect representing abnormal morphogenesis of the frontonasal eminence. The oculoauriculovertebral spectrum (OAVS) has been used to describe a broader range of first and second branchial-arch defects including hemifacial microsomia and Goldenhar's syndrome. A combination of FNM and OAVS has been described in the literature in 13 cases. This condition has been labeled as the oculoauriculofrontonasal syndrome, as well as ophthalmofrontonasal dysplasia. We have evaluated four patients with both FNM and OAVS. The pattern of malformation involves only the craniofacies: they have no vertebral defects, heart disease, or encephaloceles. The categorization of these four individuals and those in the literature raises interesting issues regarding syndrome classification. Originally, it was suggested that perhaps this disorder was a variation of Goldenhar's syndrome. However, now that it has become evident that FNM and OAVS are malformation patterns of etiologic and presumably pathogenetic heterogeneity, a more likely hypothesis is that when these two defects occur together, this represents a unique syndrome pattern. The purpose of this article is to suggest that the combination of OAVS and FNM may be a distinct entity, representing a discreet subset of patients.
Cleft Palate Craniofac J 1996 Nov
PMID:Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome. 893 80

Trisomy 8 mosaicism is a relatively common autosomal chromosomal disorder characterized by features such as mental retardation, characteristic facies, skeletal abnormalities and congenital heart disease. The case of a 4-year-old boy is described with particular reference to the oro-facial manifestations, which included cleft palate, pronounced anterior open bite, complete reserved unilateral buccal cross-bite, slightly increased width of alveolar processes, and gingival enlargement.
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PMID:The oro-facial manifestations of trisomy 8 mosaicism: a case report. 895 53

We report on a newborn girl with malformed ears, bilateral cleft lip and cleft palate, complex congenital heart disease, absent left thumb, and rib abnormalities. Cytogenetic analysis demonstrated a de novo interstitial deletion of the short arm of chromosome 1 [46,XX,del(1)(p21p22.3)]. Reports of interstitial deletions on the short arm of chromosome 1 are rare. However, when comparing this patient's phenotype to others with deletions of 1p, we found that the current case was much more severely affected than previously reported cases.
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PMID:Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review. 921 20

We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the patients had died, over half of these within a month of birth and the majority within 6 months. All but one of the deaths were the result of congenital heart disease. Clinically significant immunological problems were very uncommon. Nine percent of patients had cleft palate and 32% had velopharyngeal insufficiency, 60% of patients were hypocalcaemic, 75% of patients had cardiac problems, and 36% of patients who had abdominal ultrasound had a renal abnormality. Sixty-two percent of surviving patients were developmentally normal or had only mild learning problems. The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters.
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PMID:Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. 973 44

Congenital limb malformations rank behind only congenital heart disease as the most common birth defects observed in infants. Finding genes that cause defects in human limb patterning should be straightforward but has been limited, in part, by the bewildering spectrum of phenotypes, which are difficult to separate into etiologically distinct disorders. One approach to the identification of relevant genes is to take advantage of unique extended kindreds in which a defect in limb patterning is segregating. Recently, a large Dutch family with ectrodactyly, ectodermal dysplasia, cleft palate, and urogenital defects (EEC) was described by Maas et al. We have studied this kindred and localized a gene causing EEC to a locus on chromosome 19, in a region defined by D19S894 and D19S416. A second extended kindred with EEC does not map to this locus, indicating that EEC is a genetically heterogeneous disorder. Growth and patterning of the limbs, teeth, hair, and genitourinary system are mediated in part by epithelial-mesenchyme inductive interactions. The identification of both the gene causing EEC and its mutation may further elucidate the general signals mediating inductive mechanisms.
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PMID:Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. 944 80

We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified.
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PMID:Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype. 1044 61


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