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)

The report describes the case of a 7,9-year-old boy who seems to have clinically the same syndrome described by Ruvalcaba et al. in 1971 and uncertified till now. The propositus in characterized by severe mental retardation, peculiar facies, osseous dysplasia (including clinodactilism), urogenital and skin abnormalities, congenital heart disease (missing to the mentioned author's cases). In contrast with the normal karyotype of Ruvalcaba et al. cases, the boy shows a familial 13/14 Robertsonian translocation, karyotype 45,XY,-13,-14, t (13q14q). The boy's father, not entirely clinically investigated, shows apparently only clinodactilism, but cytogenetically the same chromosomal aberration. The mother is clinically and cytogenetically normal. The boy's grandmother (father's side) has had clinically clinodactilism and heart disease; her karyotype is unknown. The syndrome of the propositus presented in our study is identical clinically, but differs cytogenetically to the one described in "a new familial syndrome with osseous dysplasia and mental deficiency" by R. H. A. Ruvalcaba et al. It is not out of the question that the father's and boy's translocation should be balanced, irrespective of the morphological abnormalities and fortuitous associated with them the more so as to the same karyotype, the boy's and father's phenotype have few common features.
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PMID:[About "a new syndrome" associated with a familial translocation 13/14 (author's transl)]. 56 1

A rare case of dyscranio-pygo-phalangia was studied neuropathologically. The patient was a 19 days old boy, who showed multiple anomalies: protuberance of forehead, narrow eye fissures, microphthalmos, micrognathia, microauriculae with dysplasia, hexadactylia of extremities, cryptorchism, asymmetric thorax, congenital heart disease and hypoplasia of the right lung. There were multiple dysgeneses in the central nervous system, especially the cerebellum: floccular heterotopia; heterotopias of cortex type, cerebellar nucleic type and Purkinje cell type; external granular layer cells in the white matter; dentate spindle-cell-dysgenesis. Other findings were glio-neurono-mesenchymal dysgenesis on the surface of the brain, residual fetal external granular layer on the surface of the pons, partial hypoplasia of corpus callosum, heterotopic nerve cells in the molecular layer of the periinsular cortex.
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PMID:[Dysgenesis of CNS in dyscranio-pygo-phalangia (author's transl)]. 82 83

Postmortem findings within the cardiac conduction system are described from the case of a black woman with sarcoid heart disease who died suddenly. Her clinical course had been characterized by recurring ventricular arrhythmias and bouts of syncope. Both the sinus node artery and the atrioventricular (A-V) node artery were sites of focal fibromuscular dysplasia, which thickened slightly the wall of the former but markedly narrowed the lumen of the latter. Small foci of sarcoid infiltration were present in the sinus node and the A-V node. Fatty replacement within the His bundle was attributable to the probable ischemia caused by narrowing of the A-V node artery. Sarcoid granulomata and infiltration with epithelioid cells were present throughout the ventricular myocardium, but were conspicuously less prevalent in the atria. All the large coronary arteries were normal. Many small coronary arteries in the ventricular myocardium were involved by the sarcoidosis and their lumen were narrowed. These findings and analogous ones reported by others are discussed relative to the pathogenesis of syncopal attacks and sudden death which seem to peculiarly prevalent in sarcoid heart disease.
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PMID:Clinicopathologic correlations. De subitaneis mortibus. XXV. Sarcoid heart disease. 87 28

A clinico-pathological report is given on 4 cases of agyria (premature neonate to age 13 months), 3 cases of pachygyria (aged 2,5 to 4,3 years) and a boy aged 4,5 years with temporal pachygyria and frontal microgyrias. Clinical features, more pronounced in agyria than in pachygyria, were microcephaly, frequent facial anomalies, neonatal feeding difficulties, hypotonia with subsequent seizures, hypsarrhythmic EEG pattern in 3 children, arrest of psychomotor development and signs of decerebration. One case of agyria occurred with familial faciorenal dysplasia, two were associated with congenital heart disease, and the fourth with chromosomal abnormality. Morphologically, the colpocephalic brain showed a four-layered agyric pallium with radially aligned cell columns and periventricular heterotopias, lacking differentiation of the claustra, olivary heterotopias and cerebellar dysgenesias in the 4 younger infants. In the agyric neonate additional agenesis of corpus callosum was present. Pachygyric brains showed a six-layered cortex, periventricular heterotopias, lacking differentiation of the claustra, but no cerebello-olivary anomalies. Cytoarchitectonic analysis of the agyric cortex suggests a disorder of neuronal migration during stage III of neocortex formation (Rakic and Sidman) between the 11th and 13th fetal week, while the pachygyric cortex showing the later formed layers II and IV presumable is caused by an attenuated and later disorder acting in early stage IV of neocortex formation, i. e. around or after the 13th fetal week. Additional insula-claustrum dysplasia, olivary and cerebellar anomalies are due to concomittent migration disorders between the 11th and 14th week. Along this period there is a gradient from agyric to normal six-layered cortex, whereas microgyria presumably results from an event occurring after migration has terminated (after the 16th fetal week). Etiological factors of agyria-pachygyria may be both hereditary (familial lissencephaly-syndrome) and environmental ones (prenatal drug application or intrauterine perfusion disorders).
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PMID:Agyria-pachygyria (lissencephaly syndrome). 98 18

The comparison of nine examples of trisomy for the distal segment of 11q permits definition of a clinical syndrome which includes the following: axial hypotonia with hypertonia of the limbs; an old-looking wrinkled face; a large beaked nose; microretrognathia with malformation of the palate; low-set ears; a prominent anterior helix; a prominent anthelix; a short neck; a narrow chest with nipples set widely apart; micropenis in the boys; congenital heart disease; renal agenesis or malformations of the urinary tract; agenesis of the thoracic girdle; dysplasia of the acetabulum; clubfeet.
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PMID:[Trisomy 11q. Individualization of a new syndrome]. 108 Sep 82

We report the cases of eight children with Marfan syndrome. Seven (87.5%) were diagnosed with cardiopathy, everyone with auscultatory findings. Electrocardiographic patterns were nonspecific. Enlargement of the aortic root was present in two of the cases as seen by thorax x-rays. Echocardiography detected the presence of mitral valve prolapse in 87.5% of the patients (7 cases) and aortic enlargement in 75% of the patients (6 cases). Echocardiography also detected the presence of aortic dysplasia, tricuspid valve prolapse and right and left ventricular hypertrophy. During the follow-up period, no case had cardiac failure. There was no mortality. The aortic enlargement was progressive and was not modified by propranolol treatment. Surgical treatment was not needed. Family history related to this condition was present in a very small percentage (37.5%). We comment on one infantile form of Marfan syndrome with its own phenotype different from that of classical Marfan syndrome.
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PMID:[Marfan syndrome in childhood: cardiovascular manifestations. Echocardiographic changes]. 141 16

This report is a case of a 4 year old male child who was admitted for meningitis. On clinical examination he was diagnosed as a case of oculo-suriculo-vertebral dysplasia with congenital heart disease, i.e., tetralogy of Fallots besides his presenting picture of meningitis. During his ophthalmic checkup for the conspicuous presence of epibulbar dermoid, he was discovered to have upper lid coloboma, double elevator palsy, and Grade 1 Duane retraction syndrome in his right eye while the pathognomic feature, a dermolipoma, was present in the left eye. The oculo-auriculo-vertebral dysplasia, as described by Goldenhar, is a disease complex of structures developed from the Ist and IInd branchial arch. The important feature of this case is the bilateral involvement of the disease complex over and above the presence of ocular motility disorders--Duane retraction syndrome and double elevator palsy.
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PMID:Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome--a case report. 145 86

Interventional treatment is necessary for fatal drug-refractory tachyarrhythmias. Thirty-three, 33 and 16 patients (pts) with intractable ventricular tachycardia (VT) and/or fibrillation (VF) were managed with cryosurgery (CS), electrical catheter ablation (EA) and implantable pacer-cardioverter-defibrillator (PCD), respectively. Seventy-six and 43 pts with sudden death risk in the Wolff-Parkinson-White syndrome (WPW) also underwent CS and EA, respectively. CS success rates were 85% in VT/VF and 95% in WPW. Those of EA were 48% and 81%, respectively. EA success rates were 100% (6/6) in idiopathic verapamil-sensitive VT originated from LV, 0% (0/2) in VT following TOF repair and 0% (0/2) in idiopathic VT originated from right ventricular outflow tract. A new VT developed in 5 of 11 pts with arrhythmogenic right ventricular dysplasia (ARVD) following EA. PCD was effective for prevention from sudden death in idiopathic VF and pleomorphic VT. All of pharmacologic, EA and CS therapies were relatively effective in ischemic heart disease without low EF. In conclusion, the decision of VT-VF therapy may be affected by the underlying heart disease and EA may be established as an initial intervention for high risk WPW.
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PMID:[Surgical versus nonsurgical therapy of fatal tachyarrhythmias]. 147 Jan 8

Eight children forming an uncommon subgroup of renal obstructive dysplasia are presented. Each child had a nonfunctioning dysplastic kidney with a single collecting system with ectopic ureteral insertion and/or ureterocele. Five of the children had classic multicystic dysplastic kidneys, one had the hydronephrotic type of multicystic dysplastic kidney and two had hypoplastic kidneys. Other significant medical problems in 5 of the 8 children (63%) included VACTERL association, congenital heart disease and other genitourinary malformations. Unlike some children with unilateral multicystic dysplastic kidney, this subgroup of children has an increased risk of infection. They must be correctly identified on imaging so that tailored clinical management decisions can be made and associated anomalies detected.
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PMID:Single system ectopic ureters and ureteroceles associated with dysplastic kidney. 150 94

Thirteen out of 268 children (less than 18 years old) underwent hepatic transplantation (OLT) for end-stage liver disease (ESLD) associated with arteriohepatic dysplasia (AHD). Seven children are alive and well with normal liver function. Six children died, four within 11 days of the operation and the other two at 4 and 10 months after the OLT. Vascular complications with associated septicemia were responsible for the deaths of three children. Two died of heart failure and circulatory collapse, secondary to pulmonary hypertension and congenital heart disease. The remaining patient died of overwhelming sepsis not associated with technical complications. Seven patients had a portoenterostomy or portocholecystostomy early in life; five of these died after the OLT. Severe cardiovascular abnormalities in some of our patients suggest that complete hemodynamic monitoring with invasive studies should be performed in all patients with AHD, especially in cases of documented hypertrophy of the right ventricle. The improved quality of life in our surviving patients confirms the validity of OLT as a treatment of choice in cases of ESLD due to AHD.
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PMID:Liver transplantation for arteriohepatic dysplasia (Alagille's syndrome). 162 41


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