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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The vein of Galen malformation is a rarely recognized cause of congestive heart failure in the newborn. This report describes a newborn who developed severe cardiac failure in the second week of life. An aneurysm of the vein of Galen was noted on the computerized tomography scan, confirming the clinical diagnosis of cerebral arteriovenous fistula. The vascular abnormality was well shown by cerebral arteriography. At the age of four weeks, surgery was carried out by clipping the afferent arteries. The patient is non a three years old infant with moderate developmental delay and hypotonia.
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PMID:[Aneurysm of the vein of Galen with neonatal cardiac insufficiency. Success of early neurosurgical treatment]. 365 18

A 39-year-old Japanese woman with Sanfilippo syndrome type C is reported. Developmental delay was observed during infancy and progressive intellectual deterioration became apparent at 2 years. Her gait became unsteady and she became bed-ridden at 22 years of age. An intestinal fistula was made because of pyloric stenosis possibly caused by accumulation of mucopolysaccharide at 37 years of age. She died of acute cardiac failure at age 39 years. Pathological changes were marked in the heart and brain. Focal necrosis of myocardial fibers with replacement fibrosis and many vacuolated cells were observed between the muscle fibers and there were many vacuolated cells in the pyloric ring. There was severe neuronal loss with gliosis and massive corpora amylacea formation in the cerebral cortex, especially in layers 2 and 3. Ballooning of neurons was less prominent than neuronal loss. There were many vacuolated cells in the mesenchymal tissues; however, this finding was much less prominent than in other types of mucopolysaccharidosis. Our patient survived much longer than others with Sanfilippo syndrome type C of similar severity.
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PMID:Sanfilippo syndrome type C: a clinicopathological autopsy study of a long-term survivor. 880 76

Central nervous system vascular disorders in the neonate comprise structural anomalies or malformations of arteries and veins and physiologic alterations of cerebral blood flow, which can mimic structural vascular disease. Clinical , imaging, and transcatheter therapeutic aspects of neonatal cerebral vascular malformations are described. Symptomatic high-flow vascular malformations characteristically present with cardiac failure and associated systemic problems in the neonate, whereas infants typically present with macrocephaly and hydrocephalus and older children with hemorrhage, developmental delay, or focal deficits. Neonatal cerebral hemorrhage is typically primary or associated with immaturity, parturitional trauma, or coagulopathy. Likewise, cerebral ischemic lesions are more likely secondary to hypoxic, ischemic events than to thromboembolic or structural cerebrovascular occlusive disease. The role of the current noninvasive imaging modalities in each of these clinical problems is reviewed and illustrated.
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PMID:Neonatal central nervous system vascular disorders. 940 72

RXRalpha null mutant mice display ocular and cardiac malformations, liver developmental delay, and die from cardiac failure around embryonic day (E) 14.5 pc. To dissect the molecular basis of the RXRalpha-associated cardiomyopathy, we performed subtractive hybridization and systematically characterized putative downstream target genes that were selectively lacking in the mutant embryos, both at early (E10.5) and late (E13.5) stages of mouse embryonic development. Approximately 50% of the subtracted clones (61/115) encoded proteins involved in intermediary metabolism and electron transport, suggesting an energy deficiency in the RXRalpha-/- embryos. In particular, clone G1, which encodes subunit 14.5b of the NADH-ubiquinone dehydrogenase complex, displayed a dose-dependent expression in the wild-type, heterozygous and RXRalpha mutant mice. This gene was also downregulated in a retinoid-deficient rat embryo model. ATP content and medium Acyl-CoA dehydrogenase mRNA were lower in RXRalpha mutant hearts compared to wild-type mice. Ultrastructural studies showed that the density of mitochondria per myocyte was higher in the RXRalpha mutant compared to wild-type littermates. We propose a model whereby defects in intermediary metabolism may be a causative factor of the RXRalpha-/- phenotype and resembles an embryonic form of dilated cardiomyopathy.
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PMID:Energy deprivation and a deficiency in downstream metabolic target genes during the onset of embryonic heart failure in RXRalpha-/- embryos. 942 47

Congenital hyperthyroidism is a very rare disease. But, for each affected child it has to be considered as a serious condition because of the negative impact of hyperthyroidism on fetal and postnatal development. If the manifestation occurs during fetal life tachycardia, cardiac arrhythmia, growth retardation and, most significant, prematurity are the consequences. Postnatal signs of hyperthyroidism are irritability, tachycardia, hypertension, poor weight gain and thyroid enlargement. Even cardiac failure may occur if hyperthyroidism is severe and treatment not adequate which explains the high early mortality rate of 16%. The main complication of persistent hyperthyroidism in the neonatal period and during infancy is craniosynostosis. Severe developmental delay or even mental retardation can be the consequence of inadequate high T4-levels during fetal and neonatal life. Congenital hyperthyroidism was first recognized in infants born to mothers with Graves' disease. The description of transplacental passage of the maternal thyroid stimulating antibodies elucidated the molecular mechanism in this major group of patients with "autoimmune congenital hyperthyroidism". In contrast to this transient, self-limited character of "autoimmune congenital hyperthyroidism", due to the clearance of maternal antibodies from the infant's circulation, some cases of persistent congenital hyperthyroidism without signs of thyroid autoimmunity have been recognized. Activating mutations in the thyroid-stimulating hormone receptor were described recently as the underlying molecular pathogenesis in this group of "non-immune congenital hyperthyroidism". Therefore the possibility of a molecular differential diagnosis of both groups of congenital hyperthyroidism now exists and opens the opportunity of optimal treatment for each patient.
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PMID:Congenital hyperthyroidism. 943 7

We report on two sibs and two other unrelated patients with agenesis of corpus callosum, oculocutaneous albinism, repeated infections, and cardiomyopathy. All manifested postnatal growth retardation, microcephaly, and profound developmental delay. Additional central nervous system anomalies present in at least one patient included hypoplasia of the cerebellar vermis, white matter neuronal heterotopia, or bilateral schizencephaly. Repeated viral, bacterial, and fungal infections were consistent with a primary immunodeficiency. However, immunological studies showed variable, nonspecific findings. Cardiomyopathy with progressive heart failure or infection led to death before age 2 years in three of the patients. This syndrome was first described by Vici et al. [1988: Am. J. Med. Genet. 29:1-8]. The four patients reported herein confirm this unique disorder. Affected sibs of both sexes born to unaffected parents provide evidence for autosomal recessive inheritance.
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PMID:Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. 1040 46

The 4q-Syndrome: Here we report four cases of interstitial and terminal deletions of the long arm of chromosome 4. Case 1 is a 16 month old boy with del(4)(q12q21) who has soft dysmorphic features, tetralogy of Fallot, and severe developmental delay. Case 2 is a male infant with the same deletion and congenital cardiomyopathy. He suffered severe birth asphyxia and died at the age of 6 months. His father was found to have a complex chromosome 4 rearrangement. Case 3 is a female infant with del(4)(q33) who died of aspiration pneumonia. She was mildly dysmorphic and presented with heart failure and hypercalcaemia. Case 4 is a 8 month old girl who has del(4)(q33) and Pierre-Robin sequence. So far about 70 patients with microscopically visible deletions of chromosome 4q have been described. Although they vary in their phenotypes, they have several features in common. We suggest to use the term 4q-syndrome for all macrodeletions of the long arm of chromosome 4.
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PMID:The 4q-Syndrome. 1183 1

A sister and brother with Vici syndrome are described. They both had oculocutaneous albinism, agenesis of the corpus callosum, cataracts, and cardiomyopathy. They were born to healthy unrelated parents, and had postnatal growth retardation, profound developmental delay, hypotonia, and cataracts. The sister had recurrent infections, and died of progressive heart failure at age 19 months. The brother is alive at age six months with mild cardiomyopathy, and had a single episode of acute bronchitis at age three months. Review of the clinical manifestations of the sibs we described and six children reported in the literature indicates that Vici syndrome is a distinct clinical entity. Its main clinical manifestations include growth retardation, profound developmental delay, hypotonia, albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, and recurrent infections. The occurrence of the syndrome in three pairs of sibs of both sexes born to unaffected parents supports autosomal recessive inheritance.
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PMID:Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. 1193 94

The Snail-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to cause piebaldism and Waardenburg syndrome type 2 in a dose-dependent fashion. However, little is known about the consequences of SLUG overexpression in embryonic development. We report SLUG duplication in a child with a unique de novo 8q11.2-->q13.3 duplication associated with tetralogy of Fallot, submucous cleft palate, renal anomalies, hypotonia and developmental delay. To investigate the effects of Slug overexpression on development, we analyzed mice carrying a Slug transgene. These mice were morphologically normal at birth, inferring that Slug overexpression is not sufficient to cause overt morphogenetic defects. In the adult mice, there was a 20% incidence of sudden death, cardiomegaly and cardiac failure associated with incipient mesenchymal tumorigenesis. These findings, while not directly implicating Slug in congenital and acquired heart disease, raise the possibility that Slug overexpression may contribute to specific cardiac phenotypes and cancer development.
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PMID:SLUG (SNAI2) overexpression in embryonic development. 1671 46

Development of cardiopulmonary bypass has contributed to pediatric cardiac surgery, but at the dawn of cardiac surgery, simple deep hypothermia was used to avoid the deleterious effect of cardiopulmonary bypass. Between 1981 and 1990, 45 patients with simple cardiac anomalies underwent definitive surgery under deep hypothermia. Age at operation was 35 days to 20 months, and body weight was 2.3 to 8.0 kg. Under morphine and ether anesthesia, a median sternotomy was performed when the esophageal temperature reached 26.3 degrees C +/- 1.3 degrees C by the application of surface cooling. At a minimum esophageal temperature of 19.6 degrees C +/- 2.3 degrees C, inflow occlusion and cold cardioplegia were applied to induce circulatory arrest for 32.4 +/- 10.2 min. Direct cardiac massage was used to restore cardiac activity during rewarming. All but one patient was in New York Heart Association functional class I postoperatively. The latest cardiothoracic ratio was 49.8% +/- 4.7%. All but 2 patients are free from medication. Five of 30 patients showed developmental delay in the long-term; 2 of these had a long circulatory arrest period, and 3 had prolonged heart failure postoperatively. The other 25 patients had excellent physiologic and mental development. The long-term outcome of perfusionless hypothermic cardiac surgery is satisfactory when applied appropriately.
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PMID:Long-term outcome of intracardiac repair under simple deep hypothermia. 1713 Mar 18


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