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

Association of ocular, cervical, and cardiac anomalies is discussed. A case with severe congenital heart disease, unusual Duane's retraction syndrome, classified here as atypical typical, and Klippel-Feil anomaly is described. To alert the physicians to such an association of congenital malformations and for nosological purposes this entity may be called oculo-cervico-cardiac syndrome. Importance of the association of heart and eye abnormalities is stressed and syndromes with associated ocular and cardiac anomalies are briefly discussed.
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PMID:Association of ocular, cervical, and cardiac malformations. 40 24

Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals.
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PMID:Patterns of anomalies in children with malformed ears. 96 14

A statistical review of 1,354 autopsies performed in cases of congenital heart disease in three major Italian hospitals was carried out. In 446 cases one or more extracardial malformations were found; those most commonly encountered were malformations of the urinary tract, anomalies of the respiratory tract, malformations of the intestine and spleen and trisomy 21. Ventricular septal defects and persistent common atrioventricular canals occurred in a higher percentage of cases with extracardial malformations than in those where congenital heart defects were the only malformations. The reverse was true of endocardial fibroelastosis and transposition of the great vessels. Ventricular septal defects are particularly common in the Klippel-Feil syndrome, in trisomy 18 and, together with a persistent common atrioventricular canal and atrial septal defects, in trisomy 21. The typical picture of so-called "congenital heart disease associated with asplenia" was found in cases with splenic agenesis, either with or without situs inversus viscerum, but also in cases with situs inversus viscerum without asplenia.
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PMID:Congenital extracardial malformations accompanying congenital heart disease. 101 Jan 96

Wildervanck syndrome i.e. cervico (Klippel-Feil anomalad) -oculo (Duane-Stilling-Turk phenomenon with bilateral abducens palsy)-acoustic (deafness) is a rare syndrome. We report here 4 cases diagnosed as Wildervanck syndrome and analyse their findings. One patient had an an atrial septal defect. Such association of congenital heart disease with Wildervanck syndrome has not been reported previously.
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PMID:Wildervanck syndrome (cervico-oculo-acoustic syndrome). 130 89

Klippel-Feil syndrome is characterized by congenital fusion of the cervical vertebrae. Anomalies in other organs sometimes combine. Many kinds of congenital cardiac anomalies, most frequently ventricular septal defect, considerably associate with this syndrome. Few cases of surgical corrections of cardiac anomalies with Klippel-Feil syndrome have been reported up to today. Therefore surgical problems with this syndrome have not been solved yet, completely. We have experienced a very rare case of a 18-year-old female of total anomalous pulmonary venous connection (Darling Ia type) associated with Klippel-Feil syndrome, that was repaired successfully. No difficulty in the surgical and anesthesiological management referring to the fusion of cervical vertebrae was encountered. The result of surgical correction of congenital cardiac anomalies in Klippel-Feil syndrome mainly depends on the severity of the heart disease and not on Klippel-Feil syndrome itself, as literature and the present case suggest.
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PMID:[Total anomalous pulmonary venous connection associated with Klippel-Feil syndrome: a case report]. 205 86

Of fifty patients with the diagnosis of Klippel-Feil syndrome, less than half had the classic clinical triad of findings, while more than half had scoliosis, and a third had renal anomalies. All patients were at risk of having other serious, but less apparent, anomalies, including: Sprengel's deformity (twenty-one patients), impairment of hearing (fifteen patients), synkinesia (nine patients), and congenital heart disease (seven patients). The discovery of one of these lesions should, therefore, stimulate a careful search for associated anomalies.
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PMID:Klippel-Feil syndrome; a constellation of associated anomalies. 443 58