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Br Heart J. 1992 December; 68(6): 586–588.
PMCID: PMC1025689

Myocardial disarray in Noonan syndrome

Abstract

Objective—To characterise the histopathology of the left ventricular hypertrophy commonly associated with Noonan syndrome by assessing the extent of myocyte disarray and therefore to define one aspect of the relation between this disease and idiopathic hypertrophic cardiomyopathy.

Design—Blinded histological analysis.

Setting—Hospital medical school.

Patients—Six hearts of children with the Noonan phenotype and isolated ventricular hypertrophy were compared with age and sex matched controls.

Methods—Histological analysis was performed with an image analyser under light microscopy. Representative sections from the entire left ventricular free wall were examined. Results were expressed as the percentage of fields showing disarray related to the number of fields evaluated: 100 fields were examined for each patient.

Results—In the patients with Noonan syndrome myocardial disarray was present in the ventricular septum in 24 (5·7)% (mean (SD)) of fields and in the free wall in 22·2 (6·8)%. In the controls disarray was present in the septum in 3·8 (2·3)% of fields and in the free wall in 2·4 (2·8)%. In both regions the extent of disarray was significantly greater in patients with Noonan syndrome (p < 0·0005; 95% confidence interval 14 to 26·3 for the septum: p < 0·005, 95% confidence interval 11·4 to 28·2 for the free wall).

Conclusions—The ventricular hypertrophy associated with Noonan syndrome is histologically similar to hypertrophic cardiomyopathy but whether the two diseases are the expression of the same genetic defect remains to be determined.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Nora JJ, Lortscher RH, Spangler RD. Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome. Am J Dis Child. 1975 Dec;129(12):1417–1420. [PubMed]
  • Maron BJ, Sato N, Roberts WC, Edwards JE, Chandra RS. Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum. Comparison of fetuses and infants with and without congenital heart disease and patients with hypertrophic cardiomyopathy. Circulation. 1979 Sep;60(3):685–696. [PubMed]
  • Maron BJ, Roberts WC. Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum of patients with hypertrophic cardiomyopathy. Circulation. 1979 Apr;59(4):689–706. [PubMed]
  • Maron BJ, Anan TJ, Roberts WC. Quantitative analysis of the distribution of cardiac muscle cell disorganization in the left ventricular wall of patients with hypertrophic cardiomyopathy. Circulation. 1981 Apr;63(4):882–894. [PubMed]
  • Noonan JA. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child. 1968 Oct;116(4):373–380. [PubMed]
  • Ehlers KH, Engle MA, Levin AR, Deely WJ. Eccentric ventricular hypertrophy in familial and sporadic instances of 46 XX, XY Turner phenotype. Circulation. 1972 Mar;45(3):639–652. [PubMed]
  • Hirsch HD, Gelband H, Garcia O, Gottlieb S, Tamer DM. Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome. Report of two cases. Circulation. 1975 Dec;52(6):1161–1165. [PubMed]
  • Phornphutkul C, Rosenthal A, Nadas AS. Cardiomyopathy in Noonan's syndrome. Report of 3 cases. Br Heart J. 1973 Jan;35(1):99–102. [PMC free article] [PubMed]
  • Maron BJ, Henry WL, Clark CE, Redwood DR, Roberts WC, Epstein SE. Asymetric septal hypertrophy in childhood. Circulation. 1976 Jan;53(1):9–19. [PubMed]
  • McKenna WJ, Deanfield JE. Hypertrophic cardiomyopathy: an important cause of sudden death. Arch Dis Child. 1984 Oct;59(10):971–975. [PMC free article] [PubMed]
  • Greaves SC, Roche AH, Neutze JM, Whitlock RM, Veale AM. Inheritance of hypertrophic cardiomyopathy: a cross sectional and M mode echocardiographic study of 50 families. Br Heart J. 1987 Sep;58(3):259–266. [PMC free article] [PubMed]
  • Nora JJ, Sinha AK. Direct familial transmission of the Turner phenotype. Am J Dis Child. 1968 Oct;116(4):343–350. [PubMed]
  • Perrotta Scaravilli E, Pontillo D, Pennacchia F, Boccanelli A, Greco C, Lo Schiavo P. La cardiomiopatia ipertrofica associata alla sindrome di Noonan e la stenosi sottovalvolare aortica membranosa associata alla sindrome di Turner. Rapporto su due casi clinici. G Ital Cardiol. 1987 Sep;17(9):800–806. [PubMed]
  • Davies MJ. Hypertrophic cardiomyopathy: one disease or several? Br Heart J. 1990 May;63(5):263–264. [PMC free article] [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]

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