Cardiomiopatia ipertrofica ostruttiva in una paziente con sindrome di Turner.

Translated title of the contribution: Hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome

M. R. Conte, G. Bonfiglio, F. Orzan, L. Mangiardi, C. Camaschella, A. Alfarano, A. Brusca

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

A case of hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome is reported. The most frequently associated cardiac anomalies are coarctation of the aorta and bicuspid aortic valve. Hypertrophic cardiomyopathy has never been reported in this syndrome but is frequent in Noonan syndrome. In these two conditions the phenotype may be indistinguishable but the cariotype is different: normal in Noonan and 45X in Turner syndrome. Our patient had the typical somatic features, and the cariotype was 45X in all examined cells. A familial form of hypertrophic cardiomyopathy was excluded by the normal clinical examination of other members of the family. The presence of hypertrophic cardiomyopathy also in Turner syndrome and the recent localization on the long arm of the chromosome 12 of the gene for Noonan syndrome might postulate a common pathogenesis of the two syndromes.

Original languageItalian
Pages (from-to)947-949
Number of pages3
JournalCardiologia
Volume40
Issue number12
Publication statusPublished - Dec 1995

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Turner Syndrome
Hypertrophic Cardiomyopathy
Noonan Syndrome
Familial Hypertrophic Cardiomyopathy
Chromosomes, Human, Pair 12
Aortic Coarctation
Phenotype
Genes

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Conte, M. R., Bonfiglio, G., Orzan, F., Mangiardi, L., Camaschella, C., Alfarano, A., & Brusca, A. (1995). Cardiomiopatia ipertrofica ostruttiva in una paziente con sindrome di Turner. Cardiologia, 40(12), 947-949.

Cardiomiopatia ipertrofica ostruttiva in una paziente con sindrome di Turner. / Conte, M. R.; Bonfiglio, G.; Orzan, F.; Mangiardi, L.; Camaschella, C.; Alfarano, A.; Brusca, A.

In: Cardiologia, Vol. 40, No. 12, 12.1995, p. 947-949.

Research output: Contribution to journalArticle

Conte, MR, Bonfiglio, G, Orzan, F, Mangiardi, L, Camaschella, C, Alfarano, A & Brusca, A 1995, 'Cardiomiopatia ipertrofica ostruttiva in una paziente con sindrome di Turner.', Cardiologia, vol. 40, no. 12, pp. 947-949.
Conte MR, Bonfiglio G, Orzan F, Mangiardi L, Camaschella C, Alfarano A et al. Cardiomiopatia ipertrofica ostruttiva in una paziente con sindrome di Turner. Cardiologia. 1995 Dec;40(12):947-949.
Conte, M. R. ; Bonfiglio, G. ; Orzan, F. ; Mangiardi, L. ; Camaschella, C. ; Alfarano, A. ; Brusca, A. / Cardiomiopatia ipertrofica ostruttiva in una paziente con sindrome di Turner. In: Cardiologia. 1995 ; Vol. 40, No. 12. pp. 947-949.
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