CARDIOMYOPATHY, FAMILIAL DILATED

Question 1

What is  CARDIOMYOPATHY, FAMILIAL DILATED?

Accepted Answer

rare
autosomal dominant
autosomal recessive ?
mutation in the lamin A/C gene
Lamin A/C deficiency is probably the most common cause of familial dilated cardiomyopathy [Malhotra R 2009]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Familiäre dilatative Kardiomyopathie mit Reizleitungs-Defekt durch LMNA-Genmutation

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 115200

Question 4

Which enzymes are involved?

Accepted Answer

Prelamin-A/C

Disease	CARDIOMYOPATHY, FAMILIAL DILATED
Synonym	CARDIOMYOPATHY, FAMILIAL IDIOPATHIC; CARDIOMYOPATHY, FAMILIAL DILATED; CMD1A
OMIM	115200 OMIM = Online Mendelian Inheritance of Men
Orphanet	300751
Protein (UniProt)	Prelamin-A/C
Gene locus	1q22
ICD	I42.0
Summary	rare autosomal dominant autosomal recessive ? mutation in the lamin A/C gene Lamin A/C deficiency is probably the most common cause of familial dilated cardiomyopathy [Malhotra R 2009]
Laboratory findings
Symptoms	cardiac arrhythmia, dysrhythmia cardiomegaly cardiomyopathy cardiomyopathy, dilated heart failure, cardiac failure onset, childhood onset, infancy pericardial effusion