Search tips
Search criteria 


Logo of jcinvestThe Journal of Clinical Investigation
J Clin Invest. 1995 September; 96(3): 1216–1220.
PMCID: PMC185741

Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.


We have mapped a disease locus for Wolff-Parkinson-White syndrome (WPW) and familial hypertrophic cardiomyopathy (FHC) segregating in a large kindred to chromosome 7 band q3. Although WPW syndrome and FHC have been observed in members of the same family in prior studies, the relationship between these two diseases has remained enigmatic. A large family with 25 surviving individuals who are affected by one or both of these conditions was studied. The disease locus is closely linked to loci D7S688, D7S505, and D7S483 (maximum two point LOD score at D7S505 was 7.80 at theta = 0). While four different FHC loci have been described this is the first locus that can be mutated to cause both WPW and/or FHC.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (930K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Vidaillet HJ, Jr, Pressley JC, Henke E, Harrell FE, Jr, German LD. Familial occurrence of accessory atrioventricular pathways (preexcitation syndrome). N Engl J Med. 1987 Jul 9;317(2):65–69. [PubMed]
  • HARNISCHFEGER WW. Hereditary occurrence of the pre-excitation (Wolff-Parkinson-White) syndrome with re-entry mechanism and concealed conduction. Circulation. 1959 Jan;19(1):28–40. [PubMed]
  • Gillette PC, Freed D, McNamara DG. A proposed autosomal dominant method of inheritance of the Wolff-Parkinson-White syndrome and supraventricular tachycardia. J Pediatr. 1978 Aug;93(2):257–258. [PubMed]
  • Schneider RG. Familial occurrence of Wolff-Parkinson-White syndrome. Am Heart J. 1969 Jul;78(1):34–37. [PubMed]
  • Chia BL, Yew FC, Chay SO, Tan AT. Familial Wolff-Parkinson-White syndrome. J Electrocardiol. 1982 Apr;15(2):195–198. [PubMed]
  • Critelli G, Gallagher JJ, Sealy WC, Lanza GG, Condorelli M. Morte improvvisa e sindrome di preeccitazione ad incidenza familiare. Resezione chirurgica delle vie anomale in due fratelli. G Ital Cardiol. 1981;11(12):1883–1894. [PubMed]
  • Vidaillet HJ, Jr, Burton CS, 3rd, Ramirez NM, Gilbert MR, Behar VS, Hackel DB, German LD. An unusual variant of familial preexcitation. Am J Cardiol. 1987 Feb 1;59(4):371–373. [PubMed]
  • Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994 Jun 3;77(5):701–712. [PubMed]
  • Carrier L, Hengstenberg C, Beckmann JS, Guicheney P, Dufour C, Bercovici J, Dausse E, Berebbi-Bertrand I, Wisnewsky C, Pulvenis D, et al. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet. 1993 Jul;4(3):311–313. [PubMed]
  • Fananapazir L, Tracy CM, Leon MB, Winkler JB, Cannon RO, 3rd, Bonow RO, Maron BJ, Epstein SE. Electrophysiologic abnormalities in patients with hypertrophic cardiomyopathy. A consecutive analysis in 155 patients. Circulation. 1989 Nov;80(5):1259–1268. [PubMed]
  • WESTLAKE RE, COHEN W, WILLIS WH. Wolff-Parkinson-White syndrome and familial cardiomegaly. Am Heart J. 1962 Sep;64:314–320. [PubMed]
  • Massumi RA. Familial Wolff-Parkinson-White syndrome with cardiomyopathy. Am J Med. 1967 Dec;43(6):951–955. [PubMed]
  • Kariv I, Kreisler B, Sherf L, Feldman S, Rosenthal T. Familial cardiomyopathy. A review of 11 families. Am J Cardiol. 1971 Dec;28(6):693–706. [PubMed]
  • Khair GZ, Soni JS, Bamrah VS. Syncope in hypertrophic cardiomyopathy. II. Coexistence of atrioventricular block and Wolff-Parkinson-White syndrome. Am Heart J. 1985 Nov;110(5):1083–1086. [PubMed]
  • Bharati S, Strasberg B, Bilitch M, Salibi H, Mandel W, Rosen KM, Lev M. Anatomic substrate for preexcitation in idiopathic myocardial hypertrophy with fibroelastosis of the left ventricle. Am J Cardiol. 1981 Jul;48(1):47–58. [PubMed]
  • Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis-Keller H, Seidman JG, Seidman CE. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989 Nov 16;321(20):1372–1378. [PubMed]
  • Watkins H, MacRae C, Thierfelder L, Chou YH, Frenneaux M, McKenna W, Seidman JG, Seidman CE. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat Genet. 1993 Apr;3(4):333–337. [PubMed]
  • Thierfelder L, MacRae C, Watkins H, Tomfohrde J, Williams M, McKenna W, Bohm K, Noeske G, Schlepper M, Bowcock A, et al. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci U S A. 1993 Jul 1;90(13):6270–6274. [PubMed]
  • Cohen TJ, Tucker KJ, Abbott JA, Botvinick EH, Foster E, Schiller NB, O'Connell JW, Scheinman MM. Usefulness of adenosine in augmenting ventricular preexcitation for noninvasive localization of accessory pathways. Am J Cardiol. 1992 May 1;69(14):1178–1185. [PubMed]
  • Garratt CJ, Antoniou A, Griffith MJ, Ward DE, Camm AJ. Use of intravenous adenosine in sinus rhythm as a diagnostic test for latent preexcitation. Am J Cardiol. 1990 Apr 1;65(13):868–873. [PubMed]
  • Chou YH, Brown EM, Levi T, Crowe G, Atkinson AB, Arnqvist HJ, Toss G, Fuleihan GE, Seidman JG, Seidman CE. The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. Nat Genet. 1992 Jul;1(4):295–300. [PubMed]
  • Charmley P, Concannon P. Polymorphism and phylogeny of dinucleotide repeats in human T-cell receptor Vb6 genes. Immunogenetics. 1993;38(2):92–97. [PubMed]
  • Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. [PubMed]
  • Grzeschik KH, Tsui LC, Green ED. Report and abstracts of the First International Workshop on Human Chromosome 7 Mapping 1993. Cytogenet Cell Genet. 1994;65(1-2):52–73. [PubMed]
  • Solomon SD, Wolff S, Watkins H, Ridker PM, Come P, McKenna WJ, Seidman CE, Lee RT. Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. J Am Coll Cardiol. 1993 Aug;22(2):498–505. [PubMed]
  • Perosio AM, Suarez LD, Bunster AM, Locreille A, Apkarian OA, Vallazza MA, Foye R. Pre-excitation syndrome and hypertrophic cardiomyopathy. J Electrocardiol. 1983 Jan;16(1):29–40. [PubMed]
  • Touboul P, Kirkorian G, Atallah G, Cahen P, de Zuloaga C, Moleur P. Atrioventricular block and preexcitation in hypertrophic cardiomyopathy. Am J Cardiol. 1984 Mar 15;53(7):961–963. [PubMed]
  • Gariboldi M, Maestrini E, Canzian F, Manenti G, De Gregorio L, Rivella S, Chatterjee A, Herman GE, Archidiacono N, Antonacci R, et al. Comparative mapping of the actin-binding protein 280 genes in human and mouse. Genomics. 1994 May 15;21(2):428–430. [PubMed]
  • Marsden PA, Heng HH, Scherer SW, Stewart RJ, Hall AV, Shi XM, Tsui LC, Schappert KT. Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J Biol Chem. 1993 Aug 15;268(23):17478–17488. [PubMed]
  • Robinson LJ, Weremowicz S, Morton CC, Michel T. Isolation and chromosomal localization of the human endothelial nitric oxide synthase (NOS3) gene. Genomics. 1994 Jan 15;19(2):350–357. [PubMed]

Articles from The Journal of Clinical Investigation are provided here courtesy of American Society for Clinical Investigation