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[Hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome]
M R Conte1, G Bonfiglio, F Orzan
1Istituto di Medicina e Chirurgia Cardiovascolare, Università degli Studi, Torino.
Insights
This case report details hypertrophic obstructive cardiomyopathy in Turner syndrome, a condition not previously documented. This finding suggests a potential shared genetic link between Turner syndrome and Noonan syndrome.
Area of Science:
- Cardiology
- Genetics
- Endocrinology
Background:
- Turner syndrome (45X karyotype) is commonly associated with cardiac anomalies like coarctation of the aorta and bicuspid aortic valve.
- Hypertrophic cardiomyopathy (HCM) is a known feature of Noonan syndrome but has not been previously reported in Turner syndrome.
- Phenotypic similarities exist between Turner syndrome and Noonan syndrome, complicating differential diagnosis based on physical features alone.
Observation:
- A patient with Turner syndrome presented with hypertrophic obstructive cardiomyopathy.
- The patient exhibited typical somatic features of Turner syndrome, confirmed by a 45X karyotype in all cells.
- Familial hypertrophic cardiomyopathy was ruled out through clinical examination of family members.
Findings:
- This report documents the first known case of hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome.
- The co-occurrence of HCM in both Turner and Noonan syndromes, despite different karyotypes, is noteworthy.
- The genetic locus for Noonan syndrome on chromosome 12 may indicate shared pathogenic mechanisms with Turner syndrome.
Implications:
- The findings expand the spectrum of cardiac manifestations associated with Turner syndrome.
- This case raises questions about potential shared genetic pathways or influences contributing to cardiomyopathy in both Turner and Noonan syndromes.
- Further research into the genetic and molecular underpinnings of HCM in Turner syndrome is warranted to explore potential common etiologies with Noonan syndrome.
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.