Familial Hypertrophic Cardiomyopathy

Question 1

What are the symptoms of Familial hypertonic cardiomyopathy?

Answer 1

Chest pain, especially during exercise
Fainting, especially during or just after exercise or exertion
Heart murmur
Sensation of rapid, fluttering or pounding heartbeats (palpitations)
Shortness of breath, especially during exercise

Question 2

What genes are involved in Familial Hypertrophic Cardiomyopathy?

Answer 2

MYH7–> Cardiac beta- myosin heavy chain

MYBPC3–> Cardiac myosin binding protein C

TNNT2–> Cardiac troponin

TNNI3–> Cardiac troponin I

Question 3

What is the inheritance pattern for Familial hypertrophic cardiomyopathy?

Answer 3

Autosomal dominant

Question 4

What is the phenotype of the heterozygous in Familial hypertrophic cardiomyopathy?

Answer 4

They will express symptoms of disease

Question 5

Is the homozygous dominant for Familial hypertrophic cardiomyopathy lethal?

Answer 5

The homozygous cases are rare and not reported to be deadly.