Your connective tissue disorder may be a form of genetic heart condition, meaning that it is caused predominantly by a single genetic mutation (a spelling mistake or error in a gene). This genetic mutation could have been passed through your parents to you (inherited) or could have occurred for the first time in you (de novo).
If inherited, your parents may not be affected by the condition as seriously — they even may only be silent carriers of the condition, depending on how your inheritable disorder of the connective tissue manifests. In some cases, your family health history may also show evidence that the condition has been passed down through generations.
Determining an accurate diagnosis often requires genetic testing for various types of connective tissue disorders. This is because they can present similarly to each other; for instance, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome share symptoms with Marfan syndrome but require different interventions.
In the same vein, long QT syndrome can be misdiagnosed as epilepsy. Unfortunately, misdiagnoses can be a common occurrence when dealing with genetic heart conditions. However, genetic testing allows you to pinpoint which gene has been affected by a mutation, confirming the correct diagnosis.
With a firm diagnosis, you and your physician have the power to target treatment and prevention for that specific condition. You can avoid unnecessary procedures and focus on what is most likely to help. You can begin treatment early and minimise risks of more severe complications, including sudden arrhythmic death syndrome.
Knowing that you have a connective tissue disorder that is genetic also allows you to protect and care for your family. You can let siblings and parents know to get tested, as well as plan how you will best protect your children from inheriting the condition and/or live a full and happy life while managing it.