Sökning: "HCM"
Visar resultat 1 - 5 av 18 avhandlingar innehållade ordet HCM.
1. Early Cardiovascular Changes of Familial Hypertrophic Cardiomyopathy in the Young
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
2. Cardiac function in hereditary transthyretin amyloidosis : an echocardiographic study
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
3. Study the role of patient-specific mutations by genetic disease modeling : From gene to function; A study to understand muscles
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
4. Cardiac hypertrophy : transcription patterns, hypertrophic progression and extracellular signalling
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
5. Hypertrophic cardiomyopathy in Northern Sweden : with special emphasis on molecular genetics
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