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Printable Handouts
Navigable Slide Index
- Introduction
- Cardiomyopathy
- Microscopic anatomy of cardiomyocytes
- Sarcomere
- Key sarcomeric proteins
- Sliding filament model of muscle contraction
- Hypertrophic cardiomyopathy
- Histology
- Clinical findings
- Major HCM causing genes
- Major HCM causing genes
- Cardiac myosin binding protein (MYBPC3)
- β-myosin heavy chain (MYH7)
- Rare HCM causing genes
- Recently discovered HCM causing genes
- HCM phenocopies
- Disease mechanism in HCM
- The energy depletion model
- HCM causing genes: Candidate gene approach
- Next generation sequencing in HCM
- Whole Genome Sequencing (WGS) in HCM
- Clinical validity of HCM genes
- Genetic testing in HCM
- HCM: A monogenic Mendelian disease?
- Summary
Topics Covered
- Hypertrophic cardiomyopathy (HCM)
- Anatomy of cardiomyocytes and sarcomere
- Histology and clinical findings
- HCM causing genes
- Disease mechanisms in HCM
- Next generation sequencing and WGS
- Clinical validity of HCM genes
- Non-Mendelian etiology
Links
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Therapeutic Areas:
Talk Citation
Syrris, P. (2024, October 31). Genetics of hypertrophic cardiomyopathy (HCM) [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved November 12, 2024, from https://doi.org/10.69645/ZQTF1839.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Petros Syrris has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Cardiovascular & Metabolic
Transcript
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0:00
Hello. My name is Petros Syrris.
I'm a Principal
Research Fellow in
the Institute of Cardiovascular
Science at the UCL.
I run the genetics laboratory
in the center for
heart muscle disease.
Our research focuses on
human cardiomyopathies
and arrhythmia syndromes.
In this presentation,
I will talk about
"The Genetic Causes of
Hypertrophic Cardiomyopathy."
0:25
Let's start with
the definition of
cardiomyopathy in
general as it is given
in the classification of
human cardiomyopathies by
the European Society
of Cardiology.
It states that cardiomyopathy is
a disorder in which
the heart muscle
is structurally and functionally
abnormal in the absence of
coronary artery disease,
hypertension, valvular disease,
and congenital heart disease
sufficient to cause
the observed myocardial
abnormality.
In other words,
the structure and
function of the heart
are abnormal in
the absence of other
cardiovascular disease
that could explain
this abnormality.
Human cardiomyopathies are
classified according to
morphological and functional
criteria into five types.
Major form of disease is
hypertrophic cardiomyopathy.
This talk will concentrate on
the genetic forms
of this disorder.
1:21
Before we discuss HCM,
it's worth looking at
the microscopic anatomy
of cardiomyocytes.
As shown on this slide,
cardiac muscle
fibers are comprised
of cardiomyocytes
connected in series.
Myocytes have an
elongated shape and
adjacent myocytes are joined
by intercalated discs.
Myocytes contain bundles
of mylofibers which
are formed of distinct repeating
units called sarcomeres.
Sarcomere is a prominent
component of myocytes,
and is the contractile
unit of the cells.
In the next slides, we will
examine the sarcomeres
in more detail,
because they are
significantly linked with
pathogenesis of hypertrophic
cardiomyopathy.