Echocardiographic and electrocardiographic alterations in Fabry Disease

Abstract

The infiltrative cardiomyopathies are a group of disorders that impact on cardiovascular function as a result of extracellular deposition (as occurs in amyloidosis, sarcoidosis and mucopolysaccharidoses) or intracellular deposition (as occurs in glycogen, lipid or iron storage disorders). Subsequently, there is progressive increase in left ventricular wall thickness or left ventricular hypertrophy and diastolic dysfunction resulting in a poor prognosis.

In the past, these disorders were irreversible with no treatment options available. However, with medical advancements, treatments have become available for conditions such as Fabry Disease and Amyloidosis. Generally, these treatments have better outcomes if commenced earlier in the disease process. Therefore, it is imperative that these disorders are identified early. In addition to increasing awareness amongst physicians, advanced cardiac imaging techniques such as cardiac magnetic resonance imaging and advanced echocardiographic techniques, play a fundamental and important role in the diagnosis of these disorders.

The purpose of this thesis is to examine if advanced echocardiographic techniques (such as strain analysis) can identify subclinical cardiac involvement in Fabry Disease (i.e. prior to the development of left ventricular hypertrophy). Additionally, this thesis will assess if echocardiographic markers of cardiac involvement in Fabry Disease are associated with Major Adverse Cardiovascular Events. Finally, this thesis will explore if there are gender-based differences in electrocardiographic alterations seen in Fabry Disease, as well as their association to echocardiographic changes.