Genetic Mutations

Mutations in different genes can lead to various forms of cardiomyopathy. Listed below are the most common genetic mutations associated with pediatric cardiomyopathy as cited in medical literature. Although significant progress has been made in identifying genetic mutations that cause pediatric cardiomyopathy, researchers are still working on discovering new genes, including "modifier genes," which may be responsible the variation in disease symptoms, progression and outcomes in children.

At this time it is not well understood whether the genes causing cardiomyopathy in adults occur at the same frequency in children and whether they cause the disease to manifest in the same way. It has been mentioned in some studies that double mutations found in children may contribute to a more severe form of cardiomyopathy.

For a list of specific genetic mutations that have been identified, click on the links below each category.

Dilated Cardiomyopathy (DCM)

DCM can be autosomal dominantly inherited through several mutations in different genes.

Cytoskeletal and sarcolemmal genes
  • Delta-sarcoglycan (SGCD)
  • Desmin (DES)
  • Metavinculin/Vinculin (VCL)
Z-disk genes
  • Alpha-actinin-2 (ACTN2)
  • Muscle LIM protein (MLP)
  • Telethonin (T-Cap)
  • Titin (TTN)
  • ZASP (LDB3)
Sarcomere genes
  • Alpha-tropomyosin (TPM1)
  • Beta-myosin heavy chain (MYH7)
  • Cardiac alpha-actin (ACTC1)
  • Cardiac troponin-T (TNNT2)

  Lamin A/C (LMNA) gene

Secondary DCM can be caused by genetic mutations that are X-linked or autosomal recessive inherited.

X-linked inheritance
  • Dystrophin gene (DMD) – causes Duchenne and Becker muscular dystrophies
  • Tafazzin G4.5 (TAZ) – causes Barth syndrome
Autosomal recessive inheritance
  • Mitochondrial DNA and metabolic enzymes – causes Acyl-CoA dehydrogenase deficiency disorders

Hypertrophic Cardiomyopathy (HCM)

HCM primarily involves mutations in the sarcomere genes that are responsible for heart muscle contraction, and these are inherited in an autosomal dominant pattern.

Sarcomere genes
  • Alpha-tropomyosin (TPM1)
  • Beta-myosin heavy chain (MYH7)
  • Cardiac alpha actin (ACTC1)
  • Cardiac troponin C (TNNC1)
  • Cardiac troponin T (TNNT2)
  • Essential myosin light chains (MYL3)
  • Myosin binding protein-C (MYBPC3)
  • Regulatory myosin light chains (MYL2)

Secondary HCM also can be inherited in an autosomal recessive pattern.

Non-sarcomeric genes
  • Acid alpha-glucosidase (GAA) – causes Pompe disease

Restrictive Cardiomyopathy (RCM)

Although most RCM cases are not known to be inherited, certain genetic mutations have been identified to cause the disease in an autosomal dominant and autosomal recessive pattern.

Autosomal dominant inherited
  • Cardiac alpha actin (ACTC1)
  • Cardiac troponin T (TNNT2)
  • Desmin (DES)
  • Lamin A/C (LMNA)
Autosomal recessive inherited
  • Glycogen storage diseases

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

ARVC can be caused by multiple different different genetic mutations through autosomal dominant or autosomal recessive inheritance.

Autosomal dominant inheritance
  • Cardiac ryanodine receptor 2 (RYR2)
  • Desmocollin-2 (DSC2)
  • Desmoglein-2 (DSG2)
  • Plakophillin-2 (PKP2)
  • Transforming growth factor-beta 3 (TGFB3)
  • Transmembrane protein 43 (TMEM43)
Autosomal recessive inheritance
  • Plakoglobin (JUP) – causes Naxos syndrome
  • Desmoplakin (DSP) – causes Carvajal syndrome

Left Ventricular Non-Compaction Cardiomyopathy (LVCN)

LVNC can be caused by genetic mutations through X-linked or autosomal dominant inheritance.

X-linked inheritance
  • Tafazzin G4.5 gene (TAZ) – causes Barth syndrome and mitochondrial disorders
Autosomal dominant inheritance
  • Alpha-dystrobrevin (DTNA)
  • Cardiac alpha-actin (ACTC1)
  • Cardiac troponin T (TNNT2)
  • ZASP (LDB3)

Genetic Classification


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