Familial Dilated Cardiomyopathy

Question 1

What are the symptoms of Familial Dilated Cardiomyopathy?

Answer 1

Arrhythmia (irregular heartbeat)
Dyspnea (shortness of breath)
Fatigue
Syncope
Swelling of the legs and feet

Question 2

What genes are involved in Familial Dilated Cardiomyopathy?

Answer 2

LMNA- Nuclear envelope proteins (8% of cases)

TTN– the sarcomere titin (25% of cases)

Question 3

What is the inheritance pattern of Familial Dilated Cardiomyopathy?

Answer 3

Autosomal dominant

Question 4

What is the phenotype of the heterozygous in Familial Dilated Cardiomyopathy?

Answer 4

They will express symptoms of Familial Dilated Cardiomyopathy

Question 5

Is the homozygous dominant lethal for Familial Dilated Cardiomyopathy?

Answer 5

Homozygous cases are rare, but no report to be deadly.