Spring 2019 Puzzler
April  2019

Here is the latest Lab Puzzler to solve. 

A genetics test has been performed, and results are normal. Does that rule out the presence of a specific disease you seek?

A 33-year-old male applies for $750,000 of life insurance. He reports having a strong family history (FH) of cardiac problems. He himself has had no cardiac complaints in the past. He has seen a cardiologist because of the FH. A genetic test for hypertrophic cardiomyopathy was negative, but the cardiologist continues to follow this patient closely. Why?

Family History​
​Father
​Died age 44
​Sudden death
​Paternal GF
​Died "in his 50s"
​Sudden death
​Paternal Aunt
​Died recently (age?)
​Diagnosed with hypertrophic cardiomyopathy (HCM). HCM discovered after developing atrial fibrillation which was followed by a stroke.

APS Information​
​10/2017
​Cardiology evaluation
​EKG: "nonspecific ST/T wave changes"
Echocardiogram: WNL
Genetic testing: Negative
Plans to follow up in 1 year with echocardiogram
​11/2018
​Cardiology evaluation
​​EKG: "nonspecific ST/T wave changes"
Echocardiogram: WNL
Plans to follow up in 1 year with echocardiogram