Fixed subaortic stenosis associated with hypertrophic cardiomyopathy: report of a rare familial occurrence.
BACKGROUND
Fixed subaortic stenosis is considered to be an acquired condition. It is often associated with congenital heart disease, creating a turbulence in the left ventricle outflow tract. Familial forms of fixed subaortic stenosis are very unusual. We report a remarkable familial cluster in which fixed subaortic stenosis is associated with hypertrophic cardiomyopathy.


METHODS
Fourteen relatives of a patient affected with hypertrophic cardiomyopathy and fixed subaortic stenosis underwent cardiological examination, electrocardiogram and echo-doppler study.


RESULTS
Two of the proband's sisters showed an association between asymmetrical hypertrophic cardiomyopathy and fixed subaortic stenosis. The brother presented a subaortic ridge and concentric left ventricular hypertrophy. The other members of the family (another brother and the third-generation relatives) were unaffected.


CONCLUSIONS
While the association between fixed subaortic stenosis and hypertrophic cardiomyopathy has commonly been reported, there is little in the literature to suggest the family-related nature of this association. The familial occurrence of this association reveals genetic transmission, with a recessive autosomal pattern of inheritance. This finding goes against the usual autosomal dominant pattern of inheritance in hypertrophic cardiomyopathy. Familial studies of FSS are needed in order to gain a better understanding of the genetic background of these patients.
Conte
M R
MR
Ospedale degli Infermi, Rivoli TO.
Bongioanni
S
S
Dall'Orto
G
G
Nicastro
C
C
Bonfiglio
G
G
Morello
M
M
Mangiardi
L
L
Brusca
A
A
D000368:Aged; D001024:Aortic Valve Stenosis / Q000150:complications* / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications* / Q000235:genetics*; D015150:Echocardiography, Doppler; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree