ISSN:
1432-1440
Keywords:
Noonan syndrome
;
Turner phenotype
;
Single gene mutation
;
Atypical pulmonary stenosis
;
Hypertrophic cardiomyopathy
;
Cardiocutaneous syndrome
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary The case of a 50-year-old patient with hypertrophic obstructive cardiomyopathy is reported. The patient demonstrated somatic signs of the Turner phenotype, but a cytogenetically normal karyotype was shown. These findings were compatible with the diagnosis of Noonan syndrome. The most commonly diagnosed cardiac disease in this syndrome is pulmonary stenosis, followed by hypertrophic cardiomyopathy. The patient's prognosis is limited by the natural history or the typical complications of the underlying cardiac lesion.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01798545
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