Patients with CPVT Results

Average Age of Onset and Presentation

Using this data we can take a look at the age of onset and age of presentation of patients with CPVT. We are using age of onset as a proxy for the severity of CPVT.

Age of onset refers to the age at which the symptoms of a condition first appear.

We can see for the variants with a pathogenic ClinVar classification, individuals have a lower average age of onset compared to those with a variant of uncertain significance.

We can also take a look at the difference in age of onset between and the age of presentation of individuals.

Age of presentation refers to the age at which the patient first presents to a healthcare provider with symptoms of the condition.

We can see that both the distribution of the patients’ age at presentation and age of onset are skewed to the left, with the majority of cases being diagnosed before age 20.

The mean age of onset is years of age and the mean age of presentation is years of age.

The median age of onset is years of age and the median age of presentation is years of age.

SQL Query

View Query

SELECT *
FROM individual i
         LEFT JOIN individual_condition ic
                   ON i.individual_id = ic.individual_id
         LEFT JOIN condition c
                   ON ic.condition_id = c.condition_id
WHERE c.condition = 'Catecholaminergic polymorphic ventricular tachycardia 1';

Compare two groups of patients

Using this data, we can also compare this age of onset between two different groups of patients.

For example, we can compare the age of onset between individuals with different conditions, such as Sudden Cardiac Arrest; demographic data; or the inheritance pattern of the variant;

SQL Query

View Query

SELECT i.individual_id,
       i.sex,
       i.variant_inheritance,
       ic.age_of_onset                                 as cpvt_age_of_onset,
       (SELECT ic.has_condition as has_sca
        FROM individual i_inner
                 LEFT JOIN individual_condition ic
                           ON i_inner.individual_id = ic.individual_id
                 LEFT JOIN condition c
                           ON ic.condition_id = c.condition_id
        WHERE c.condition = 'Sudden cardiac arrest'
          AND i_inner.individual_id = i.individual_id) AS experienced_sca
FROM individual i
         LEFT JOIN individual_condition ic
                   ON i.individual_id = ic.individual_id
         LEFT JOIN condition c
                   ON ic.condition_id = c.condition_id
WHERE c.condition = 'Catecholaminergic polymorphic ventricular tachycardia 1';

Exercise Induced Nature of CPVT

From the data, we can also take a look at the exercise-induced nature of CPVT. For patients with CPVT, we see that the majority of patients have symptoms such as syncope, polymorphic ventricular tachycardia, and sudden cardiac arrest during exercise.

Table Results

SQL Query

View Query

SELECT i.individual_id,
       ic.has_condition                 as has_cpvt,
       (SELECT json_group_array(
                       json_object(
                               'condition', c.condition,
                               'has_condition', ic.has_condition
                       )
               ) AS conditions
        FROM individual i_inner
                 LEFT JOIN individual_condition ic
                           ON i_inner.individual_id = ic.individual_id
                 LEFT JOIN condition c
                           ON ic.condition_id = c.condition_id
        WHERE c.condition LIKE '%Exercise%'
          AND i_inner.individual_id = i.individual_id
        GROUP BY i_inner.individual_id) AS exercise_symptoms
FROM individual i
         LEFT JOIN individual_condition ic
                   ON i.individual_id = ic.individual_id
         LEFT JOIN condition c
                   ON ic.condition_id = c.condition_id
WHERE c.condition = 'Catecholaminergic polymorphic ventricular tachycardia 1'
  AND ic.has_condition = 1;

Treatment of CPVT

This database also contains information on an individual's treatment for CPVT. Using this data, we can see that the most common treatment for CPVT is beta-blockers.

Diving deeper, we can also take a look at the effectiveness of beta-blockers. We can see that only for half of the patients, beta-blockers are reported to be effective.