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.
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Abbreviations
- EC:
-
echocardiography
- H(O)CM:
-
hypertrophic (obstructive) cardiomyopathy
- NS:
-
Noonan syndrome
- SAM:
-
systolic anterior motion
- MRT:
-
magnetic resonance tomogram
- LH:
-
luteinizing hormone
- FSH:
-
follicle-stimulating hormone
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Pongratz, G., Friedrich, M., Unverdorben, M. et al. Hypertrophic obstructive cardiomyopathy as a manifestation of a cardiocutaneous syndrome (Noonan syndrome). Klin Wochenschr 69, 932–936 (1991). https://doi.org/10.1007/BF01798545
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DOI: https://doi.org/10.1007/BF01798545