Genetic Testing in Heart Disease

At Genetics.ie we offer a wide range of genetic testing services and today we’re here to talk about its relevance to those with heart disease. Specifically, there are genetic disorders of cardiac function, which may be the underlying reason for the cardiac problem in an individual and their family. 

When discussing cardiac genetics, we are referring to situations where the consequences of DNA mutation in individual genes result in disorders of the heart and blood vessels. This is distinct from abnormalities of chromosomes, which can frequently cause congenital heart disease with structural abnormalities of heart formation and function. 

In our clinic, we work with many patients referred from Cardiology services, seeking to identify those families and individuals affected by or with a history in the family of inherited cardiac disease or sudden cardiac death. 

We help patients with heart complications, that form part of a multi-system syndrome or genetic condition, as well as other cardiac abnormalities including:

• Catecholaminergic polymorphic ventricular tachycardia (CPVT)

• Long QT syndrome aka Romano-Ward syndrome

• Arrhythmogenic right ventricular cardiomyopathy

• Aortic outlet disease, or other aortic abnormality

• Marfan syndrome and lookalike disorders

• Other connective tissue disease syndromes

• Inherited predisposition to Arrhythmia

• Familial aortic aneurysm and dissection

• Familial dilated cardiomyopathy

• Familial congenital heart disease

• Hypertrophic cardiomyopathy

• Abnormal ECG profiles

• Sudden cardiac death

• Brugada syndrome

• Carney complex 

• Cardiomyopathy

Predictive Genetic Testing & How It Helps Families

Not every patient has a family history that indicates an underlying genetic disorder, but genetic testing can help in the identification of a genetic basis for the symptoms being experienced. 

If such a diagnosis applies to a patient, this diagnosis can be used to identify other family members who might have a shared genetic mutation and therefore be at risk of developing the condition. Likewise, others can be identified who have not inherited the family disorder and do not need cardiac follow up. 

With this information, people with cardiac issues and other health problems can enter into early prevention/management programmes and periodic monitoring for specific symptoms that they are known to be genetically predisposed to develop. Identification of patients at risk and early intervention can be life-saving. 

A Trusted Name in Genetic Testing 

Under Dr Reardon’s supervision, our team offers the full range of genetic testing services, so that you can get the important information you need. Working with the utmost professionalism, we strive to meet the highest clinical standards and levels of patient care.

If you’d like to know more about us and the full range of genetic testing we offer, visit us at www.genetics.ie. Alternatively, to talk to us directly about anything discussed here, call us on 01 206 4329 and we’ll be happy to help in any way we can.