Sökning: "HCM"

Visar resultat 1 - 5 av 18 avhandlingar innehållade ordet HCM.

1. 1. Early Cardiovascular Changes of Familial Hypertrophic Cardiomyopathy in the Young

   Författare :Eva Fernlund; Lund Pediatrik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; A-ECG. SCD.; advanced ECG; CMR; Tissue Doppler; Echocardiography; Microcirculation; LaserDoppler; Athletes heart; HCM; hypertrophic cardiomyopathy; Familial hypertrophic cardiomyopathy;

   Sammanfattning : Familial hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, transmitted in an autosomal dominant fashion, i.e. 50% risk for transmission of the disease-causing mutation to each child of the affected family. LÄS MER

3. 2. Cardiac function in hereditary transthyretin amyloidosis : an echocardiographic study

   Författare :Sandra Arvidsson; Per Lindqvist; Eva Nylander; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyloid; echocardiography; ECG; HCM; fibril type; strain; ATTR; cardiomyopathy; speckle tracking;

   Sammanfattning : Background: Hereditary transthyretin amyloidosis (ATTR) is a lethal disease in which misfolded transthyretin (TTR) proteins accumulate as insoluble aggregates in tissues throughout the body. A common mutation is the exchange of valine to methionine at place 30 (TTR V30M), a form endemically found in the northern parts of Sweden. LÄS MER

4. 3. Study the role of patient-specific mutations by genetic disease modeling : From gene to function; A study to understand muscles

   Författare :Martin Dahl-Halvarsson; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Muscles; Myosin; MYH7; Myosin storage myopathy; Laing early-onset myopathy; Drosophila; TOR1A; DYT1; HCM; heart disease;

   Sammanfattning : Many genetic diseases inherited in a dominant fashion have a complex pathological pattern. TOR1A mediated Dystonia-1 (DYT1) is an example of incomplete penetrance, affecting only a third of the carriers. LÄS MER

5. 4. Cardiac hypertrophy : transcription patterns, hypertrophic progression and extracellular signalling

   Författare :Nina Gennebäck; Stellan Mörner; Anders Waldenström; Urban Hellman; Ali J Marian; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cardiac hypertrophy; HCM; gene expression; OPLS-DA; multivariate dataanalysis; cardiomyocytes; exosomes; microvesicles; Medicine; medicin;

   Sammanfattning : Background: The aim of this thesis was to study transcription patterns and extracellular signalling of the hypertrophic heart to better understand the mechanisms initiating, controlling and maintaining cardiac hypertrophy.Cardiac hypertrophy is a risk factor for cardiovascular morbidity and mortality. LÄS MER

7. 5. Hypertrophic cardiomyopathy in Northern Sweden : with special emphasis on molecular genetics

   Författare :Stellan Mörner; Åke Hjalmarson; Umeå universitet; []
   Nyckelord :Hypertrophic cardiomyopathy; genetics; autonomic nervous system; familial amyloid polyneuropathy; echocardiography; Epidemiology; epidemiologi;

   Sammanfattning : Hypertrophic cardiomyopathy (HCM) is a heterogeneous, often familial disease, characterized by cardiac hypertrophy, predominantly affecting the interventricular septum. To date, no study has systematically analysed the genetic and phenotypic aspects of the disease in a Swedish population. LÄS MER