TABLE 1.

Examples of Recent Discoveries of Genetic Etiology of Monogenic Cardiovascular Diseases Using Next Generation Sequencing

Single Gene Disorder	Gene	Function	Ref
Familial dilated cardiomyopathy	TTN	Titin is a large sarcomere protein spanning half of sarcomere length	(18)
Familial and sporadic dilated Cardiomyopathy	BAG3	Cochaperon protein	(20)
Autosomal recessive Dilated Cardiomyopathy	GATA	GATA zinc finger domain	(21)
	D1	containing protein 1 transcription factor
Hypertrophic cardiomyopathy (mitochondrial)	MRPL3	Abnormal assembly of mitochondrial respiratory chain	(22)
Cantú syndrome (Patent ductus arteriosus, cardiac hypertrophy, pulmonary hypertension and pericardial effusion in conjunction with non-cardiac manifestations)	ABCC9	An ATP-sensitive potassium channel	(23)
Thoracic aortic aneurysm	SMAD3	Signal transduced of TGF-beta	(24)
Familial pheochromocytoma	MAX	Neural crest development	(25)
Congenital heart defects	MYH6	Sarcomeric myofibril formation	(26)