Congenital which will increase our insight into the genetic

Congenital Heart Defects (CHDs) are one of the major causes of
death due to congenital malformations and show some of the more preponderant malformations
among live births. It has been revealed that
both familial and sporadic forms of CHDs result
from mutations in several genes based on human cases and animal models (1). Based on targeted deletions studies in mice, it has been
suggested that there are more than five hundred genes involved in heart
disorders (Mouse Genome Informatics ( (2). CHDs treat greatly as a complex trait and to date, the number of
familial cases has distinguished by the Mendelian segregation of single-gene mutations are
so few (3).

Both inherited and non-inherited factors account for congenital
heart disease (CHD). The incidence of CHD approximately is 0.4-0.6% live births
and real prevalence is about 4% (4, 5). Our knowledge about CHD’s causes and mechanisms remains
restricted in spite of the advances in diagnosis and interventions. With development
of whole exome/genome sequencing more CHD causing genes possibly will be
clarified which will increase our insight into
the genetic causes of CHD.

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Numerous epidemiological studies have suggested
a genetic component of CHD etiology. Approximately,
25 percent of CHD cases occur as a complex trait with related defects in other organs
as a sporadic malformative association,
Mendelian syndrome or chromosomal abnormality (6). The rest of cases occur as isolated defects
and both sporadic and familial cases that showing Mendelian patterns of inheritance,
have been reported (7, 8). To date, several diseases associated with MYH6
mutations such as hypertrophic (HCM), dilated cardiomyopathy (DCM) and atrial
septal defect (ASD) have been reported (9). ASD is categorized as the second most common
CHD and accounts for 10% of all cardiac malformations (10). Around 80% of persistent
small ASDs close spontaneously during infancy or childhood, but the large one could cause serious defects such as
congestive heart failure, pulmonary vascular disease and etc. (11). There are various types of ASD. ASD type 3 is caused
by mutations in MYH6 (12).  It has not
been identified any correlation between the nonsynonymous mutation of MYH6
and ASD3 but in the present study, we
could detect this correlation.