Autosomal dominant mendelian midline complex. Secundum atrial septal defect associated to cardiac and facio-thoracic defects. A familial case;Complexe mendelien de la ligne mediane communication interauriculaire de type ostium secundum associee a des malformations cardiaques et facio- thoraciques. A propos d'un cas familial

Archives des Maladies du Coeur et des Vaisseaux

Volumn 93, Issue 5, 2000, Pages 641-647

  Stephan E ^a   Ashoush, R ^a   Megarbane A ^a   Kassab, R ^a   Salem, N ^a   Loiselet, J ^a   Bouvagnet, P ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EBSTEIN ANOMALY; FACE MALFORMATION; FAMILY STUDY; FEMALE; FUNNEL CHEST; HEART ARRHYTHMIA; HEART ATRIUM SEPTUM DEFECT; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VALVE STENOSIS; HUMAN; MALE; VELOCARDIOFACIAL SYNDROME; CASE REPORT; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DOMINANT GENE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FACE; GENETICS; HEART SEPTUM DEFECT; INFANT; MIDDLE AGED; MULTIPLE MALFORMATION SYNDROME; PEDIGREE; THORAX;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FACE; FEMALE; GENES, DOMINANT; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; INFANT; MALE; MIDDLE AGED; PEDIGREE; THORAX;

EID: 17644428415     PISSN: 00039683     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. McKusik VM. Mendelien Inheritance in Man. Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 11th Edition. Baltimore : The Johns Hopkins University Press, 1994.
2. Bonnet D, Terrett J, Pequignot-Viegas E et ol. Localisation génique en 12q12 dans le syndrome atrio-digital de Holt-Oram. Arch Mal Cœur 1995 ; 88 : 661-6.
3. Wilson GN, Oliver WJ. Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia. J Med Genet 1988 ; 25 : 157-63.
4. Schott JJ, Benson DW, Basson Q et al. Congenital heart disease caused by mutations in the transcription factor NKX-2.5. Science 1998 ; 281 : 108-11.
5. Digilio MC, Marino B, Giannotti A, Dallapiccola B. Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome. Hum Genet 1995, 96 : 251-3.
6. Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, Van Berkum KAP, McKusick VA. Thrombocytopenia with absent radius (TAR). Medicine 1969 ; 48 : 411-39.
7. Cachat F, Rapatsalahy, Sekarski N, Hurni M, von Segesser L, Payot M. Trois types différents de communication interauriculaire dans une même famille. Arch Mal Cœur 1999 ; 92 : 667-9.
8. Rey C, Godard F, Francart C, Cajot MA, Vaksmann G, Brevière GM. Fermeture percutanée des communications interauriculaires de type ostium secundum par le dispositif d'Amplatz. Etude préliminaire à propos de 29 patients. Arch Mal Cœur 1999 ; 92 : 565-70.
9. Mégarbané A, Stéphan E, Kassab R et al. Autosomal dominant secundum atrial septal defect with various cardiac and non-cardiac defects: a new midline disorder. Am J Med Genet 1999 ; 83 : 193-200.
10. Debrus S, de Meeus A, Jean MK, Bouvagnet P. Génétique des cardiopathies héréditaires. Arch Mal Cœur 1996 ; 89 : 619-27.
11. Stéphan E, Meeus de A, Bouvagnet P. Hereditary bundle-branch defect: right bundle branch blocks of different causes have different morphologic characteristics. Am Heart J 1997 ; 33 : 249-56.
12. de Meeus de A, Stephan I, Debrus S et al. An isolated cardiac conduction disease maps to chromosome 19q. Circ Res 1995 ; 77 : 735-9.
13. Brink PA, Ferreira A, Moolman JC, Weymar HW, van der Merwe PL, Corfield VA. Gene for progressive familial heart block type I maps to chromosome 19q13. Circulation 1995 ; 91 : 1633-40