CARDIOMYOPATHIES AND BRAIN TUMOURS
A myocardial disorder in which the heart muscle is structurally and
functionally anormal, in the absence of coronary artery disease,
hypertension, valvular disease and congenital heart disease
sufficient to cause the observed myocardial abnormality.
Classification of the cardiomyopathies: a position statement from
the European society of cardiology working group on myocardial
and pericardial diseases.
All of the classifications can be familial and non-familial.
There is genetic and phenotypic overlap in cardiomyopathies.
Genetic Testing/ Next-Generation Sequencing
Targeted genes
Whole-exome
Whole-genome
, Hypertrophic Cardiomyopathy
Left ventricular hypertrophy (LVH) in the absence of sufficiently abnormal loading conditions.
Prevalence: 1/500-1/200
Sudden cardiac death.
Heart failure, atrial fibrillation, stroke.
Current use and indications:
- Genetic testing of probands. Definitive
diagnosis/confirmation. Differential (phenocopies).
- Famil screening.
Sarcomeric Causes (Genetic):
- Autosomal dominant trait caused by mutations in
cardiac sarcomere protein genes.
- High locus and allelic heterogeneity.
- Variable expressivity.
- Incomplete and age-dependent penetrance.
Anderson-Farby
GLA mutation
X-linked
Alpha-galactosidase A deficiency (neutral
glycosphingolipids metabolism)
Globotriaosylceramide (kidneys, skin, heart)
Dilated Cardiomyopathy
Familial DCM
Idiopathic.
2 or more relatives affected and/or 1 sudden death
<35 years.
20-50% of idiopathic DCM is familial (depends on
the strategy of screening).
Current Challenges
Incomplete yield of genetic variants
Interpretation of genetic variants
Genotype-phenotype relationships
Genetics Role for Clinical Decision Making in Cardiomyopathies
Diagnosis:
A myocardial disorder in which the heart muscle is structurally and
functionally anormal, in the absence of coronary artery disease,
hypertension, valvular disease and congenital heart disease
sufficient to cause the observed myocardial abnormality.
Classification of the cardiomyopathies: a position statement from
the European society of cardiology working group on myocardial
and pericardial diseases.
All of the classifications can be familial and non-familial.
There is genetic and phenotypic overlap in cardiomyopathies.
Genetic Testing/ Next-Generation Sequencing
Targeted genes
Whole-exome
Whole-genome
, Hypertrophic Cardiomyopathy
Left ventricular hypertrophy (LVH) in the absence of sufficiently abnormal loading conditions.
Prevalence: 1/500-1/200
Sudden cardiac death.
Heart failure, atrial fibrillation, stroke.
Current use and indications:
- Genetic testing of probands. Definitive
diagnosis/confirmation. Differential (phenocopies).
- Famil screening.
Sarcomeric Causes (Genetic):
- Autosomal dominant trait caused by mutations in
cardiac sarcomere protein genes.
- High locus and allelic heterogeneity.
- Variable expressivity.
- Incomplete and age-dependent penetrance.
Anderson-Farby
GLA mutation
X-linked
Alpha-galactosidase A deficiency (neutral
glycosphingolipids metabolism)
Globotriaosylceramide (kidneys, skin, heart)
Dilated Cardiomyopathy
Familial DCM
Idiopathic.
2 or more relatives affected and/or 1 sudden death
<35 years.
20-50% of idiopathic DCM is familial (depends on
the strategy of screening).
Current Challenges
Incomplete yield of genetic variants
Interpretation of genetic variants
Genotype-phenotype relationships
Genetics Role for Clinical Decision Making in Cardiomyopathies
Diagnosis:
