Table 1.

Classification and description of genetic heart diseases included in the AGHD^a Registry.

Genetic heart disease type and specific condition		Definition	Diagnostic tests
Inherited cardiomyopathies
	Hypertrophic cardiomyopathy	Abnormal thickening of the heart muscle on either the left or right ventricle	Electrocardiogram, echocardiogram, cardiac magnetic resonance imaging (MRI), and Holter monitor
	Dilated cardiomyopathy	Enlargement of the left ventricle of the heart affects the ability of the heart to pump blood effectively	Electrocardiogram, echocardiogram, cardiac MRI, and Holter monitor
	Arrhythmogenic cardiomyopathy	A disease of the heart muscle where the normal heart muscle cells on either the left or right ventricle are replaced by fat and scar tissue. This change can lead to heart rhythm abnormalities, or the affected ventricle may become enlarged and not pump blood effectively	Electrocardiogram, echocardiogram, cardiac MRI, and Holter monitor
	Left ventricular noncompaction	Characterized by deep trabeculations (finger-like projections) in the heart muscle wall of predominantly the left ventricle, but may also appear in the right ventricle	Electrocardiogram, echocardiogram, and cardiac MRI
Primary arrhythmia syndromes
	Long QT syndrome	Characterized by abnormal electrical activity in the heart that often presents in children and teenagers	Electrocardiogram, echocardiogram, and exercise or stress test
	Catecholaminergic polymorphic ventricular tachycardia (CPVT)	CPVT is a rare condition often present in children and teenagers. A cardiac event can occur during periods of high emotion or exercise as these situations cause the body to release adrenalin or noradrenalin. These persons have an abnormal response to adrenaline, which causes the heart to beat fast and irregularly	Electrocardiogram, echocardiogram, exercise or stress test, and Holter monitor
	Brugada syndrome	A rhythm disorder that causes the ventricles to beat abnormally fast, affecting the ability of the heart to pump blood effectively	Electrocardiogram, echocardiogram, and drug infusion study

^aAGHD: Australian Genetic Heart Disease.