Cardiac Manifestations of Alström Syndrome: Echocardiographic Findings

Journal of the American Society of Echocardiography

Volumn 20, Issue 12, 2007, Pages 1359-1363

  Makaryus, Amgad N ^a   Zubrow, Michael E ^c   Marshall, Jan D ^b   Gillam, Linda D ^a   Mangion, Judy R ^d  

^a Department of Medicine   (United States)

^b JACKSON LABORATORY   (United States)

^c VASSAR COLLEGE   (United States)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALSTROM SYNDROME; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; HEART LEFT VENTRICLE FAILURE; HEART RIGHT VENTRICLE FAILURE; HUMAN; INFANT; MALE; MITRAL VALVE REGURGITATION; PERICARDIAL EFFUSION; SYSTOLE; TRANSTHORACIC ECHOCARDIOGRAPHY; TRICUSPID VALVE REGURGITATION;

ADOLESCENT; BLINDNESS; CARDIOMYOPATHY, DILATED; CHILD; CHILD, PRESCHOOL; ECHOCARDIOGRAPHY; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; SYNDROME; VENTRICULAR DYSFUNCTION, LEFT;

EID: 36549014585     PISSN: 08947317     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.echo.2007.04.033     Document Type: Article

References (13)

1. Supporting those affected by Alström Syndrome. Alström Syndrome International. Available from: URL:http://www.jax.org/alstrom. [Accessed December 24, 2006].
2. Alström C.H., Hallgren B., Nilsson L.B., and Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from Laurence-Moon-Biedl syndrome; a clinic endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand 34 (1959) 1-35
3. Michaud J.L., Heon E., Guilbert F., Weill J., Puech B., Benson L., et al. Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr 128 (1996) 225-229
4. Russell-Eggitt I.M., Clayton P.T., Coffey R., Kriss A., Taylor D.S., and Taylor J.F. Alström syndrome: report of 22 cases and literature review. Ophthalmology 105 (1998) 1274-1280
5. Hung Y.J., Jeng C., Pei D., Chou P.I., and Wu D.A. Alström syndrome in two siblings. J Formos Med Assoc 100 (2001) 45-49
6. Collin G.B., Marshall J.D., Ikeda A., Venus So W., Russell-Eggitt I.M., Maffei P., et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet 31 (2002) 74-78
7. Marshall J.D., Bronson R.T., Collin G.B., Nordstrom A.D., Maffei P., Paisey R.B., et al. New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 165 (2005) 675-683
8. Collin G.B., Marshall J.D., Cardon L.R., and Nishina P.M. Homozygosity mapping of Alström syndrome to chromosome 2p. Hum Mol Genet 6 (1997) 213-219
9. Warren S.E., Schnitt S.J., Bauman A.J., Gianelly R.E., Landsberg L., and Baim D.S. Late onset dilated cardiomyopathy in a unique familial syndrome of hypogonadism and metabolic abnormalities. Am Heart J 114 (1987) 1522-1524
10. Snider A.R., Serwer G.A., and Ritter S.B. Echocardiography in pediatric heart disease. 2nd ed. (1997), Mosby-Year Book Inc, St Louis
11. St John Sutton M.G., Oldershaw P.J., and Kotler M.N. Textbook of echocardiography and Doppler in adults and children. 2nd ed. (1996), Blackwell Science Inc, Cambridge (MA)
12. Green J.S., Parfrey F.S., Harnett J.D., Farid N.R., Cramer B.C., Johnson G., et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Lawrence-Moon-Biedl syndrome. N Engl J Med 321 (1989) 1002-1009
13. Makaryus A.N., Popowski B., Kort S., Paris Y., and Mangion J.R. A rare case of Alström syndrome presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography. J Am Soc Echocardiogr 16 (2003) 194-196