Sudden Cardiac Death May Be Prevented in Some Families with Hereditary Cardio-Genetic Disorder
A 43-year-old male, Amit, came to the Genetic Clinic with his wife, who was filled with anxiety. Amit was leading a healthy lifestyle — balanced diet, regular physical exercise, non-smoker, and a teetotaller. He had had two episodes of fainting (syncope), after which his cardiologist had carried out various tests. The results indicated a strong possibility that Amit was at risk for sudden cardiac death, likely due to certain genetic mutations known to cause abnormal heart beat.
The Genetic Diagnosis
Based on guidelines, Amit’s cardiologist sought genetic testing to confirm the suspected genetic condition. Amit and his wife were referred for a pre-test genetic counselling appointment at MapmyGenome. Our Genetic Counsellor recommended Whole Exome Sequencing (WES) — a sophisticated genomics-based test that sequences all genes, extremely useful when a specific clinical picture is known to be caused by one of many genes.
Results of WES revealed a mutation in both copies of the KCNE1 gene, greatly increasing Amit’s risk of heart failure and confirming his cardiologist’s concerns. This confirmed genetic diagnosis gave Amit as well as his cardiologist confidence in proceeding with recommendations — and an ICD (implantable cardioverter defibrillator) device was successfully implanted.
The Family Benefit
Because genes are shared within families, a secondary benefit of genetic testing in Amit’s case was that we were able to screen additional family members to identify those at risk, as well as those not at risk, for genetic cardiovascular diseases. Targeted genetic testing was recommended to Amit’s brother — who, to everyone’s relief, did not have the mutation. He neither needed an ICD, nor needed to worry about a potentially life-threatening heart condition.
The Lesson
Most families have a history of sudden deaths in parents or grandparents, which should be considered a red flag. Referral for genetic counselling and/or testing is key in prevention and wellbeing. Genetic counselling helped both the cardiologist and the patient understand the implications of the genetic test report for the patient, his daughter, and other family members.
Know Your Hereditary Cardiac Risk
MapmyGenome offers Whole Exome Sequencing, targeted cardiac genetic panels, and certified genetic counselling — helping families identify and manage hereditary cardiovascular risks before they become life-threatening events.
