DSP & ALVC – The Silent Killer

In the days and months that followed October 6, 2020, we learned the cause of Caleb’s death, that it was due to a genetic heart condition. Arrhythmogenic Left Ventricular Cardiomyopathy is the full name (ALVC for short), and it is caused by a variation or mutation in the Desmoplakin (DSP) gene. 

DSP Gene Variant

The gene “glues” heart cells together so they stay strong during each heartbeat. If there’s a mutation:

  • The “glue” doesn’t work properly
  • Heart cells can pull apart or get damaged more easily
  • Over time, the body replaces damaged cells with scar tissue

Our Journey to Discovering DSP & ALVC

The scar tissue and enlarged heart is what the medical examiner saw during the autopsy. When your child passes in his sleep and he was healthy and attending football practices hours before he passed, it leaves you baffled as to the cause of death. We had wondered if it could have been carbon monoxide poisoning, or if he had taken any wrong medication (my kids don’t take any medication without me giving it directly to them, so that seemed very unlikely). 

The medical examiner let us know early on that it was a problem with his heart, because he could see right away that his heart was enlarged. Later on, he took samples for us to send to U of M’s genetic cardiology department for them to do genetic testing. They found out that Caleb’s cells had a DSP gene variant and that was what caused the scarring and enlargement of his heart. 

We had the other 2 kids tested for the gene, and a lot of the extended family took the test as well. The results showed that about half the family members who took the test tested positive for the DSP gene variant. What it means for the family is to get everyone to follow up with a cardiologist regularly and make sure their hearts are healthy.

Genotypes & Phenotypes

A little biology lesson here – there are genotypes and there are phenotypes. The genes we carry do not necessarily manifest the problems they may cause (the phenotype). It could mean someone with the gene variant can live their whole life without any heart issues. Thankfully, that seems to be the case with our extended family. It does mean we continue to deal with ALVC in our immediate family, as we discovered our daughter has the gene variant, and her heart had also already shown signs of scarring.

What does it mean to have ALVC?

ALVC is a type of cardiomyopathy which means your heart has a reduced function and is not pumping blood as effectively as a normal heart. With medication and adjustments in lifestyle, one can have a good life prognosis, living to a good old age. Oftentimes an ICD (implanted defibrillator) is also recommended as it will prevent deaths due to arrhythmia, which is what took Caleb’s life in his sleep.

(Disclaimer: You can read up more about DSP and ALVC, as I am not a medical expert and do not profess to know all about these topics.)