Genetics cardiomyopathy

5 important questions on Genetics cardiomyopathy

How will DCM-child benefit form knowledge about genetic mutations?

Type of CMP -> diagnosis
Genetic risk in family
Treatment options

Cantu syndrome clinical manifestiation?

Hypertrichosis
Cardiac manifestations
Macrosomia
Skeletal abnormalities

Therapy cantu syndrome heart problem?

Minoxidil mimicks cantu syndrome -> KATP antagonist, Glibenclamide -> treatment
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Mendelian laws and CMP?

CMP mainly occurs trough Mendelian laws

Disadvantage of exon screening?

Exon = 1% whole genome. Information on other (non-coding) parts

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