Modifying Factors in the Phenotypic Expression of Hypertrophic Cardiomyopathy
dc.contributor.author
Begley, David Andrew
en
dc.date.accessioned
2018-03-29T12:16:48Z
dc.date.available
2018-03-29T12:16:48Z
dc.date.issued
2008
dc.description.abstract
en
dc.description.abstract
The objectives of this study were to assess the role of potential modifying
factors in the phenotypic expression of hypertrophic cardiomyopathy (HCM) and to
assess therapeutic options that might cause regression of left ventricular (LV) mass
in HCM.
en
dc.description.abstract
A total of 269 patients were carefully phenotyped and LV mass was
determined by cardiac MRI. The role of gender, insulin-like growth factor-I (IGF-I)
and genetic polymorphism in the angiotensin converting enzyme (ACE) and
endothelin-1 (ET-1) genes in determining LV mass in HCM was assessed. The
relationship between brain natriuretic peptide (BNP) and HCM caused by known
sarcomeric mutations was also assessed. The role of ACE inhibition and/or blockade
was also assessed in regression of LV hypertrophy in non-obstructive HCM patients.
en
dc.description.abstract
Female patients were found to have relatively thicker hearts with smaller
cavities than male patients as in LV hypertrophy caused by pressure overload. Higher
physiological levels of IGF-I were associated with lesser degrees of LVH which may
be due to increased muscular efficiency. BNP levels were associated with the disease
causing mutation but not to the degree of LVH. Mutations associated with an adverse
prognosis had significantly higher BNP levels. The insertion/deletion (I/D) ACE
gene but not ET-1 gene polymorphism was associated with LV mass in HCM.
Treatment with enalapril alone or in combination with losartan resulted in a 7% and
8.5% reduction in LV mass respectively over 6 months.
en
dc.description.abstract
HCM is a complex disease with many potential phenotypic modifiers. These
studies suggest that identifying modifying factors is important to explore therapeutic
options in the management of these patients. In addition further studies exploring the
long term impact of such therapies on disease progression are indicated and their role
in disease prevention in pre-clinical states.
en
dc.identifier.uri
http://hdl.handle.net/1842/29132
dc.publisher
The University of Edinburgh
en
dc.relation.ispartof
Annexe Thesis Digitisation Project 2018 Block 17
en
dc.relation.isreferencedby
Already catalogued
en
dc.title
Modifying Factors in the Phenotypic Expression of Hypertrophic Cardiomyopathy
en
dc.type
Thesis or Dissertation
en
dc.type.qualificationlevel
Doctoral
en
dc.type.qualificationname
MD Doctor of Medicine
en
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