Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand sydrome?

Clinical Genetics

Volumn 68, Issue 2, 2005, Pages 155-160

  Šinkovec, Matjaž ^a   Petrovic D ^b   Volk, M ^a   Peterlin, B ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^b UNIVERSITY OF LJUBLJANA   (Slovenia)

Author keywords

Brachydactyly; Cardiac ryhthm disorder; Heart hand syndrome; Myocardial disease; Sudden death

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRACHYDACTYLY; BRUGADA SYNDROME; CLINICAL ARTICLE; CLINODACTYLY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; FAMILIAL DISEASE; FEMALE; FOOT MALFORMATION; FREQUENCY ANALYSIS; GENETIC RECOMBINATION; HEART ATRIOVENTRICULAR NODE; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VENTRICLE TACHYCARDIA; HOLT ORAM SYNDROME; HUMAN; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MULTIPLE MALFORMATION SYNDROME; ONSET AGE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; ROBINOW SYNDROME; SINOATRIAL CONDUCTION; SUDDEN DEATH; SYNDACTYLY; TOE MALFORMATION; ULNAR MAMMARY SYNDROME;

ADULT; AGE OF ONSET; AGED; CARDIOMYOPATHY, DILATED; DEATH, SUDDEN, CARDIAC; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HEART BLOCK; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; SINOATRIAL BLOCK; SYNDROME;

EID: 22244458591     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00476.x     Document Type: Article

References (23)

1. Kass S, MacRae C, Graber HL et al. A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1. Nat Genet 1994: 7: 546-551.
2. Nelson SD, Sparks EA, Graber HL et al. Clinical characteristics of sudden death victims in heritable (chromosome 1p1-1q1) conduction and myocardial disease. J Am Coll Cardiol 1998: 32: 1717-1723.
3. Fatkin D, MacRae C, Sasaki T et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999: 341: 1715-1724.
4. Wilson GN. Correlated heart/limb anomalies in Mendelian syndromes provide evidence for a cardiomelic developmental field. Am J Med Genet 1998: 76: 297-305.
5. Bell J. On brachydactyly and symphalangism: introduction and classification of cases. Treas Hum Inherit 1951: 5: 1-31.
6. Temtamy SA, McKusick VA. The genetics of hand malformations. Birth Defects Orig Artic Ser 1978: 14: 241-244.
7. Silengo MC, Biagioli M, Guala A, Lopez-Bell G, Lala R. Heart-hand syndrome II. A report of Tabatznik syndrome with new findings. Clin Genet 1990: 38: 105-113.
8. Ruiz de la Fuente S, Prieto F. Heart-hand syndrome III. A new syndrome in three generations. Hum Genet 1980: 55 (1): 43-47.
9. Hollister DW, Hollister WG. The 'long-thumb' brachydactyly syndrome. Am J Med Genet 1981: 8: 5-16.
10. Gardin JM, Adams DB, Douglas PS et al. Recommendations for a standardized report for adult transthoracic echocardiography: a report from American Society of Echocardiography's Nomenclature and Standards Committee and Task Force for a Standardized Echocardiography Report. J Am Soc Echocardiogr 2002: 15: 275-290.
11. Hall JG, Froster-Iskenius UG, Allanson JE. Handbook of normal physical measurements. New York: Oxford Medical Publications, 1989.
12. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984: 81: 3443-3447.
13. Terwilliger J, Ott J. Handbook for human genetic linkage. Baltimore: John Hopkins University Press, 1994: 307.
14. Stables RH, Bailey C, Ormerod OJM. Idiopathic familial atrial cardiomyopathy with diffuse conduction block. Q J Med 1989: 71: 325-332.
15. Fitch N. Classification and identification of inherited brachydactylies. J Med Genet 1979: 16: 36-44.
16. Basson CT, Solomon SD, Weissman B et al. Genetic heterogeneity of heart-hand syndromes. Circulation 1995: 91: 1326-1329.
17. Basson CT, Bachinsky DR, Lin RC et al. Mutations in humans cause limb and cardiac malformations in Holt-Oram syndrome. Nat Genet 1997: 15: 21-29.
18. Li QY, Newbury-ecob RA, Terrett JA et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of Brachiury (T) gene family. Nat Genet 1997: 16: 311-315.
19. Bamshad M, Lin RC, Law DJ et al. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet 1997: 16: 311-315.
20. Gong Y, Chitayat D, Kerr B et al. Brachidactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for shared ancestral mutation. Am J Hum Genet 1999: 64: 570-577.
21. Oldridge M, Fortuna AM, Maringa M et al. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet 2000: 24: 275-278.
22. Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death. a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol 1992: 20: 1391-1396.
23. Schott JJ, Alshinawi C, Kyndt F et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999: 23: 20-21.