079 Early Identification of mutation carriers by echodoppler and TDI in familial Hypertrophic Cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging.
AIMS Preliminary studies suggested that tissue Doppler imaging (TDI) was able to identify mutation carriers in familial hypertrophic cardiomyopathy (HCM) before the development of hypertrophy. However, data are limited. We performed a systematic analysis of echocardiography, TDI, and electrocardiogram (ECG) in familial HCM to identify parameters associated with genetic status. METHODS AND RES...
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BACKGROUND Familial hypertrophic cardiomyopathy (FHC) is characterized by genetic and clinical heterogeneity. Five percent of FHC families have 2 FHC-causing mutations, which results in earlier disease onset, increased cardiac dysfunction, and a higher incidence of sudden death events. These observations suggest a relationship between the number of gene mutations and phenotype severity in FHC. ...
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Hypertrophic cardiomyopathy (HCM) is a familial disorder characterized by left ventricular hypertrophy in the absence of other cardiac or systemic disease likely to cause this hypertrophy. HCM is considered a disease of the sarcomere as most causal mutations are identified in genes encoding sarcomeric proteins, although several other disorders have also been linked to the HCM phenotype. The cli...
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ژورنال
عنوان ژورنال: Archives of Cardiovascular Diseases Supplements
سال: 2010
ISSN: 1878-6480
DOI: 10.1016/s1878-6480(10)70081-1