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Query: UMLS:C0265264 (HOS)
 1,119 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of the Holt-Oram syndrome is described, that is, the association of a skeletal anomaly of the superior limbs, with a constant involvment of the thumbs, and an ostium secundum defect with a prolonged P-R interval. The case presented has the peculiarity of being sporadic, while from the literature a familiarity is almost constant via an autosomic dominant hereditary transmission. The more common syndromes were an alteration of the superior limbs is associated with a congenital cardiopathy are schematically underlined. Finally, the embriological reasons of this not rare association are briefly discussed.
G Ital Cardiol 1976
PMID:[The Holt-Oram syndrome: report of a case (author's transl)]. 101 Feb 53

A genetic study of 119 correlative cases of patent ductus arteriosus has been performed. The isolated cases showed female predominance, but there was a three times higher risk for the sibs of male cases, suggesting a multifactorial causative mechanism. Dermatoglyphs presented an excess of arches in male, and a tendency to distal axial triradius in female. There were 15 cases belonging to polymalformative syndromes, such as mongolism, Turner, Noonan, Holt-Oram, Lewis and rubella embryopathy.
Basic Res Cardiol
PMID:Genetics of patent ductus arteriosus. 110 79

This report is concerned with a patient successfully operated for Holt-Oram syndrome. The disorder is inherited dominantly with complete penetrance and variable expressivity. It is pointed out that in cases of congenital heart disease familial cumulation must be borne in mind which can easily be verified by pedigree investigation. After demonstrating autosomal dominant inheritance, suitable inferences must be drawn for genetic counseling. Attention is drawn to the heart-surgical significance of the rhythm disorders so often associated with the syndrome.
Basic Res Cardiol
PMID:An operated case of Holt-Oram syndrome with autosomal dominant inheritance. 125 86

An unusual case of Holt-Oram syndrome with arachnodactyly, high arch palate, thoracic scoliosis and hypoplasia of the left radial artery is reported. The relevant literature is discussed and the importance of vascular hypoplasia in genesis and localization of the skeletal deformities of this syndrome is stressed.
Int J Cardiol 1984 Dec
PMID:An unusual case of Holt-Oram syndrome. 651 47

In 1960 Holt and Oram reported a family in which upper extremity malformations were associated with a secundum atrial septal defect. Since then, more than 200 cases have been reported with a wide spectrum of phenotypes. The authors present the cases of one mother and daughter with Holt-Oram Syndrome (SHO).
Rev Port Cardiol 1994 Dec
PMID:[Holt-Oram syndrome. Review and report of 2 familial cases]. 764 65

According to the description made by Holt and Oram in 1960, a wide group of associated skeletal and cardiac malformations was named as syndrome of Holt-Oram. The morpho-anatomic and functional expression of the syndrome are so great in extension, that it is possible to think of several clinical entities with common manifestations; or perhaps, in a common entity with different clinical and functional expressions. Undoubtedly, the interest in the knowledge and diagnostic of the disease is due mainly to the hereditary condition, as demonstrated in a great number of cases, though they had been observed some generations without antecedents, with the possible explanation of genetic mutation. In this paper, are demonstrated the descriptive findings in a patient, male, 32 years old, with the diagnostic of Holt-Oram syndrome, and also the results of the study of the near members of his family. This study allowed to find other affected persons with manifestations that probably can be the result of new mutations. The paper is completed with a wide review of the pertinent bibliography.
Rev Esp Cardiol 1993 Jun
PMID:[The Holt-Oram syndrome. Entelechy or clinical entity? A mild form of familial presentation]. 831 6

The case of a 40-year-old woman with Holt-Oram syndrome is presented. Besides the absence of thumbs and an atrial septal defect, she presented multiple strokes and end-stage renal failure. The latter might be attributed to malformations of the arteries of the brain and kidneys within the expression of the syndrome, despite the small possibility of coincidence.
Acta Cardiol 1996
PMID:Holt-Oram syndrome with malformations of renal and cerebral arteries. 888 94

A family is described where the father has the many skeletal, but none of the cardiac abnormalities associated with the Holt-Oram syndrome. His two daughters have similar skeletal anomalies, but with identical cardiac lesions, as does another patient, raising the possibility of an associated genetic marker.
Cardiol Young 1998 Jan
PMID:Holt-Oram syndrome and multiple ventricular septal defects: an association suggesting a possible genetic marker? 968 Feb 86

Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculoskeletal abnormalities and their association with the cardiac morphologic defects. Both patients in this study had associated eosinophilia, which has not been reported in the literature.
Arq Bras Cardiol 1999 Nov
PMID:Holt-Oram syndrome revisited. Two patients in the same family. 1088 63

We report on a case of a 60-year-old man with progressive heart failure, mitral and aortic valve insufficiency and bilateral asymmetrical skeletal upper-limb deformities. Central to the suspicion of Holt-Oram syndrome in this patient was the surgical finding of agenesis of the left pericardium. A Holt-Oram syndrome diagnostic was confirmed through molecular analysis of the TBX5 gene. A new amino acid substitution at position 61 of the TBX5 gene was identified and confirmed the clinical diagnosis of Holt-Oram syndrome. The clinical presentation of the present case broadens the clinical spectrum of Holt-Oram syndrome and point out the importance of Tbx 5 in pericardium development. It is still an unstudied issue whether TBX5 mutations may also be present in other clinical presentations where absence of the pericardium is a feature.
Int J Cardiol 2007 Jan 02
PMID:Holt-Oram syndrome presenting as agenesis of the left pericardium. 1637 38


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