About Left Ventricular Noncompaction
The New York Center for Rare Diseases supports the mission and guidelines of the Genetic and Rare Diseases Information Center (GARD). The following information is provided by the NIH.
Summary
Left ventricular noncompaction (LVNC) is a rare heart condition. In LVNC the inside wall of the heart is spongy or grooved, instead of smooth. Signs and symptoms of LVNC vary, but may cause life-threatening abnormal heart rhythms and weakness of the heart muscle.
Causes
What Causes This Disease?
Genetic Mutations: Left ventricular noncompaction is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.
If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team.
Known Genetic Mutations: Left ventricular noncompaction is caused by genetic mutations in the following known gene(s):
MYH7B, TNNT2, TPM1, PRDM16, MIB1, PKP2, MYH7
Given these known genetic mutation(s), you may want to ask your health care team if genetic testing is right for you. Genetic tests are laboratory tests that use samples of blood, saliva, or other tissues to help identify changes in genes, chromosomes, or proteins. Genetic testing can help confirm or rule out a suspected genetic disease, or can provide other useful information to your health care team.
Can This Disease Be Passed Down From Parent to Child?
Yes. It is possible for a biological parent to pass down genetic mutations that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team.
There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD’s current data, this disease can be inherited in the following pattern(s):
Autosomal Dominant: Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.
People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.
Mitochondrial Inheritance: Mitochondrial inheritance means the genetic mutation is located in a specific type of DNA, called mtDNA. mtDNA is found within the cell’s mitochondria. Mitochondria are tiny structures that produce energy for the body. Genetic mutations within mtDNA can prevent the mitochondria from working properly.
During human conception, egg cells, or the cells that come from the female parent, provide mitochondria. If a female parent is affected by a mitochondrial genetic mutation, there is a 100% chance their child inherits the mutated gene. However, the child may or may not be affected by the disease. A male parent cannot pass mitochondrial genetic mutations to their children.
Autosomal Recessive: Autosomal means the gene involved is located on one of the numbered chromosomes. Recessive means that a child must inherit two copies of the mutated gene, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the genetic mutation. A carrier usually doesn’t show any symptoms of the disease.
If both biological parents are carriers, there is a 25% chance their child inherits both copies of the mutated gene and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the mutated gene and is a carrier.
X-Linked: X-linked inheritance means the genetic mutation is located on the X chromosome, one of the sex chromosomes. The male sex chromosome pair consists of one X and one Y chromosome (XY). The female sex chromosome pair consists of two X chromosomes (XX). Because males have just one X chromosome, it takes only one copy of the mutated gene to cause the disease. Females that have one copy of the mutated gene may have symptoms similar to those experienced by affected males, but usually have less severe symptoms, or no symptoms at all.
Female parents with one X-linked mutated gene have a 50% chance of passing on the mutation to each of their biological children. Male parents with an X-linked mutated gene will pass on the mutation to all their female children but cannot pass the mutation on to their male children.