Harmful Heritage: Diagnosis and management of hereditary cardiomyopathies

Heritable cardiomyopathies, diseases of the heart, can affect anyone in the world. They are caused by a genetic mutation that can be passed from parent to child, but not everyone who carries such a mutation develops the disease. There are broadly three types: a thickened heart muscle that reduces the space available for blood, a dilated heart muscle with little strength, and a heart muscle with a higher risk of arrhythmias.
Phospholamban (PLN) cardiomyopathy is associated with stiffening of the heart muscle, can present as the latter two variants, and is specifically highlighted in this dissertation. This heritable disease originated in the northern Netherlands, and there is currently no cure. The goal is to identify early who is at risk of developing the disease to implement potential treatments.
In this thesis, we demonstrate that artificial intelligence can be used to predict which carriers of the faulty PLN gene will develop the disease and which will not. Additionally, we describe a treatment option for PLN heart disease with a drug that combats the stiffening of the heart muscle.