catecholaminergic polymorphic ventricular tachycardia 2

Catecholaminergic polymorphic ventricular tachycardia 2 is a heart rhythm disorder characterized by abnormal, stress-induced rapid heartbeats. This condition is caused by mutations in the CASQ2 gene, which is involved in regulating calcium within heart muscle cells. Individuals with this condition typically experience episodes of polymorphic ventricular tachycardia and recurrent syncope, with both features being consistently observed. It is inherited in an autosomal recessive pattern, meaning that two copies of the altered gene are required for the condition to manifest.

The hallmark clinical features of this condition include polymorphic ventricular tachycardia and episodes of syncope, both of which are always present. These symptoms often occur in response to physical or emotional stress and can lead to sudden fainting spells. Although these features are characteristic, not all individuals experience every aspect to the same degree, and there is considerable variability in the severity and frequency of episodes over time.

This condition is caused by pathogenic variants in the CASQ2 gene. The CASQ2 gene plays a crucial role in calcium regulation within cardiac muscle cells, and mutations can disrupt normal calcium handling, leading to abnormal heart rhythms. It is inherited in an autosomal recessive manner, meaning that an affected individual has received one mutated copy of the gene from each parent. Families are encouraged to seek genetic counseling to better understand inheritance risks and to discuss options for family planning.

Currently, management focuses on supportive care and symptom control since there are no treatments that are specifically approved for this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team to manage arrhythmias and prevent complications. Patients are advised to work closely with their healthcare team and to consider genetic counseling as part of their overall care plan.

Outcomes vary depending on symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals continue to manage the condition effectively, although the clinical course can differ significantly between patients. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to consult with cardiology specialists and genetic counselors to explore long-term management options and to connect with support resources.

Clinical trials are underway exploring new treatment approaches for catecholaminergic polymorphic ventricular tachycardia 2. Individuals interested in clinical trials are encouraged to search ClinicalTrials.gov or speak with their care team about eligibility and additional research opportunities.