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Condition report · Cardiovascular

Syndromic and Metabolic Cardiomyopathies

Inherited cardiomyopathies that are part of a wider syndrome, a storage or mitochondrial disorder, or a gene-specific heart and muscle condition, and that are not covered by the dedicated reports for hypertrophic, dilated, arrhythmogenic and restrictive cardiomyopathy and left ventricular noncompaction.

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

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The 7 conditions we analyse

PRKAG2-Related Cardiomyopathy

Autosomal dominant

A glycogen storage condition of the heart caused by changes in PRKAG2 that causes thickening of the heart muscle and conduction problems such as Wolff-Parkinson-White pattern.

What a diagnosis changes

Knowing about it supports rhythm monitoring, as some people need a pacemaker or treatment of an accessory pathway.

Genes analysed

Also known as

PRKAG2 cardiac syndrome; PRKAG2 cardiomyopathy; PRKAG2 syndrome

Includes 3 related subtypes ↓
  • hypertrophic cardiomyopathy 6
  • lethal congenital glycogen storage disease of heart
  • Wolff-Parkinson-White syndrome
MONDO:0800484

NKX2-5-Related Heart Disease

Autosomal dominant

A condition caused by changes in NKX2-5 that can combine congenital heart defects such as atrial septal defect with progressive conduction disease and cardiomyopathy.

What a diagnosis changes

Knowing about it supports regular rhythm monitoring, as conduction disease can progress and need a pacemaker.

Genes analysed

Also known as

NKX2-5-related congenital, conduction and myopathic heart disease

MONDO:0800441

ACTN2-Related Cardiac and Skeletal Myopathy

Autosomal dominant

A heart and muscle disorder caused by changes in ACTN2 that can cause hypertrophic, dilated or restrictive cardiomyopathy, arrhythmias and muscle weakness.

Genes analysed

Also known as

ACTN2 familial isolated dilated cardiomyopathy; cardiomyopathy, dilated, 1AA, with or without LVNC; cardiomyopathy, hypertrophic, 23, with or without LVNC; CMD1AA; dilated cardiomyopathy 1AA with or without left ventricular noncompaction; dilated cardiomyopathy type 1AA; familial isolated dilated cardiomyopathy caused by mutation in ACTN2

Includes 3 related subtypes ↓
  • dilated cardiomyopathy 1AA
  • myopathy, congenital, with structured cores and z-line abnormalities
  • myopathy, distal, 6, adult-onset, autosomal dominant
MONDO:0700349

CAMK2D-Related Neurodevelopmental Disorder and Dilated Cardiomyopathy

Autosomal dominant

A condition caused by changes in CAMK2D that combines learning and developmental difficulties with dilated cardiomyopathy.

Genes analysed

MONDO:1040008

Sengers Syndrome

Autosomal recessive

A mitochondrial condition caused by changes in AGK that combines hypertrophic cardiomyopathy, cataracts and exercise intolerance with lactic acidosis.

Genes analysed

Also known as

cardiomyopathic mitochondrial DNA depletion syndrome 10; cataract and cardiomyopathy; mitochondrial DNA depletion syndrome 10

MONDO:0008922OMIM 212350Orphanet 1369MedGen 395228

Mitochondrial DNA Depletion Syndrome 12B (Cardiomyopathic Type)

Autosomal recessive

A condition caused by changes in SLC25A4 that causes hypertrophic cardiomyopathy and muscle weakness from infancy.

Genes analysed

Also known as

mitochondrial DNA depletion syndrome 12; mitochondrial DNA depletion syndrome 12 (cardiomyopathic type); mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR; mitochondrial DNA depletion syndrome type 12; MTDPS12; MTDPS12B

MONDO:0014175OMIM 615418MedGen 815773

Mitochondrial DNA Depletion Syndrome 12A (Cardiomyopathic Type)

Autosomal dominant

A severe condition caused by changes in SLC25A4 that causes cardiomyopathy, muscle weakness and lactic acidosis from birth.

Genes analysed

Also known as

mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD; mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A; MTDPS12A

MONDO:0014959OMIM 617184MedGen 934643

Other cardiovascular conditions

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