A summary of the most common genetic cardiac diseases in Australia

Cardiac genetic diseases are a group of disorders that affect the heart and are caused by gene faults (mutations). These diseases can lead to structural or functional abnormalities in the heart and may cause a range of symptoms including chest pain, shortness of breath, palpitations, and fainting.

Genetic cardiomyopathy is one of the most common types of cardiac genetic diseases. It refers to a group of conditions where the heart muscle becomes enlarged, thickened or weakened, leading to impaired heart function. The most common types of genetic cardiomyopathies are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). HCM is a condition where the walls of the heart become thickened, while DCM causes the heart to become weakened and enlarged. Both conditions can increase the risk of heart failure and sudden cardiac death. Other types of less common cardiomyopathy includes Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and Left Ventricular Noncompaction Cardiomyopathy (LVNC).

Arrhythmias are another type of cardiac genetic disease, characterized by abnormal heart rhythms. These can be caused by mutations in the genes that control the heart's electrical system, leading to irregular heartbeats. Arrhythmias can cause a range of symptoms including palpitations, dizziness, and fainting. In severe cases, they can lead to sudden cardiac death. Some of the common genetic arrhythmias include long QT syndrome (LQTS), Brugada syndrome and Catecholaminergic Polymorphic VT (CPVT).

It is important to note that genetic cardiac diseases can affect people of all ages, including children and young adults. In many cases, these diseases may not cause any symptoms until later in life. Therefore, it is important for individuals with a family history of cardiac disease to undergo genetic testing to determine their risk of developing the condition.

There are various treatment options available for individuals with genetic cardiac diseases, depending on the specific condition and severity of symptoms. These may include medications, lifestyle changes, implantable devices such as pacemakers and defibrillators, and in some cases, surgery. Cardiac genetic diseases can have a significant impact on an individual's health and quality of life. Awareness and early detection are key in managing these conditions and reducing the risk of complications.

If you or a family member has been diagnosed with a cardiac genetic disease, consider seeking care at First Light Genetics. Led by clinical geneticist Dr Mohammad Al-shinnag, the clinic provides comprehensive genetic counselling and genetic testing services for individuals and families affected by cardiac genetic diseases. Located at St Vincent's Clinic, the team at First Light Genetics works closely with patients and their healthcare providers to develop personalized care plans tailored to their unique needs. With state-of-the-art technology and expertise in the field of genetics, First Light Genetics is dedicated to improving the health and quality of life of individuals and families affected by cardiac genetic diseases.

If you wish to know more about genetic cardiac disease, please contact Dr Mohammad Al-Shinnag: https://www.stvincentsclinic.com.au/find-a-doctor/specialties/clinical-genomics-and-genetics/dr-mohammad-al-shinnag.