Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.
نویسندگان
چکیده
We have mapped a disease locus for Wolff-Parkinson-White syndrome (WPW) and familial hypertrophic cardiomyopathy (FHC) segregating in a large kindred to chromosome 7 band q3. Although WPW syndrome and FHC have been observed in members of the same family in prior studies, the relationship between these two diseases has remained enigmatic. A large family with 25 surviving individuals who are affected by one or both of these conditions was studied. The disease locus is closely linked to loci D7S688, D7S505, and D7S483 (maximum two point LOD score at D7S505 was 7.80 at theta = 0). While four different FHC loci have been described this is the first locus that can be mutated to cause both WPW and/or FHC.
منابع مشابه
Absence of PRKAG2 Mutation in Isolated Familial Wolff-Parkinson-White Syndrome A Case Report
Familial Wolff-Parkinson-White (WPW) syndrome has an autosomal dominant inheritance. Previous genetic linkage studies showed the locus was on Chromosome 7 (7q3), and the gene was identified to be PRKAG2, which encodes for gamma-2 subunit of AMP-activated protein kinase (AMPK). The PRKAG2 mutation has been related to familial WPW syndrome with concomitant hypertrophic cardiomyopathy and/or atrio...
متن کاملFamilial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome progressing to ventricular dilation.
We have mapped a disease locus for Wolff-Parkinson-White syndrome (WPW) and familial hypertrophic cardiomyopathy (FHC) segregating in a large kindred to chromosome 7 band q3. Although WPW syndrome and FHC have been observed in members of the same family in prior studies, the relationship between these two diseases has remained enigmatic. A large family with 25 surviving individuals who are affe...
متن کاملLeft ventricular noncompaction associated with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome
We report a 35-year-old female patient with hypertrophic cardiomyopathy, left ventricular noncompaction, and Wolff-Parkinson-White EKG pattern. Several other family members present the same clinical condition. We speculate that this phenotype is related to the genotypes PRKAG2 and LAMP2 represented by mutations of the genes encoding AMP-activated protein kinase (PRKAG2) and lysosome associated ...
متن کامل[Idiopathic hypertrophic subaortic stenosis and Wolff-Parkinson-White syndrome].
A case of idiopathic hypertrophic subaortic stenosis (IHSS) associated with Wolff-Parkinson-White (WPW) syndrome is studied. On three occasions preexcitation was suppressed with an intravenous injection of ajmaline. The left ventricular outflow tract obstruction (LVOTO) was analyzed; when WPW syndrome activation disappeared, the obstruction decreased. The ventricular depolarization pathway is n...
متن کامل[Vectorcardiography in Wolff-Parkinson-White syndrome].
Twenty-six patients with Wolff-Parkinson-White (WPW) syndrome were studied by echocardiography. They were classified into the following WPW types: anterior right ventricular pre-excitation (Type I) - six patients; posterior right ventricular pre-excitation (Type II) - six patients; posterior left ventricular pre-excitation (Type III) - fourteen patients. Twenty-three patients were in WPW at the...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- The Journal of clinical investigation
دوره 96 3 شماره
صفحات -
تاریخ انتشار 1995