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Principal Investigator: Dr. Clara Tang

Congenital heart disease (CHD) comprises a heterogeneous group of cardiac malformations and among which tetralogy of Fallot (TOF) is the most frequent form of CHD after birth. It is considered as the most common type of cyanotic cardiac lesions, accounting for ~10% of all CHD cases (3/10,000 live-births). Compared to other CHD subtypes across the broad spectrum, TOF represents the largest single phenotypic subtype of severe CHD with plausibly higher contribution of rare variants and lower genetic diversity, offering largest power to study the underlying genetic contribution. Owing to the severity of the phenotype, TOF has been widely used as a model to study cardiac progenitor cells migration and differentiation during heart development. Understanding the genetic basis of TOF and dissecting the relative contributions of coding, non-coding and structural variations by whole genome sequencing will deepen the knowledge of endogenous mechanisms that govern the fate of second heart field cardiac progenitors and provide grounds for deciphering the etiology of other less severe cardiac defects across the wide spectrum of CHD and ultimately offer novel insights to pursue heart regeneration.

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