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Condition report · Cardiovascular

Restrictive Cardiomyopathy

Inherited conditions in which the heart muscle becomes stiff, so the ventricles cannot fill properly even though their size and pumping strength may look normal. Restrictive cardiomyopathy caused by storage diseases is covered in the lysosomal storage reports.

A condition report looks for rare variants known to cause the conditions it covers.

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The 5 conditions we analyse

Familial Restrictive Cardiomyopathy 1 (TNNI3)

Autosomal dominant

A form of restrictive cardiomyopathy caused by changes in the sarcomere gene TNNI3.

What a diagnosis changes

Knowing about it supports specialist heart monitoring and screening of relatives.

Genes analysed

Also known as

cardiomyopathy, familial restrictive, type 1; familial isolated restrictive cardiomyopathy caused by mutation in TNNI3; RCM1; TNNI3 familial isolated restrictive cardiomyopathy

MONDO:0007270OMIM 115210MedGen 396236

Familial Restrictive Cardiomyopathy 3 (TNNT2)

Autosomal dominant

A form of restrictive cardiomyopathy caused by changes in the sarcomere gene TNNT2.

Genes analysed

Also known as

cardiomyopathy, familial restrictive, type 3; familial isolated restrictive cardiomyopathy caused by mutation in TNNT2; RCM3; TNNT2 familial isolated restrictive cardiomyopathy

MONDO:0012900OMIM 612422MedGen 382807

Familial Restrictive Cardiomyopathy 5 (FLNC)

Autosomal dominant

A form of restrictive cardiomyopathy caused by changes in FLNC, which can also cause arrhythmias.

Also known as

RCM5

MONDO:0800371MedGen 934715

Familial Restrictive Cardiomyopathy 6 (KIF20A)

Autosomal recessive

A form of restrictive cardiomyopathy beginning before birth or in infancy, caused by changes in KIF20A.

Also known as

RCM6

MONDO:0030330OMIM 619433MedGen 1780781

Other cardiovascular conditions

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