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.
Lamin A/C (LMNA) gene
Secondary DCM can be caused by genetic mutations that are X-linked or autosomal recessive inherited.
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.
Secondary HCM also can be inherited in an autosomal recessive pattern.
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.
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
ARVC can be caused by multiple different different genetic mutations through autosomal dominant or autosomal recessive inheritance.
Left Ventricular Non-Compaction Cardiomyopathy (LVCN)
LVNC can be caused by genetic mutations through X-linked or autosomal dominant inheritance.