GENETIC

FACTORS
ASSOCIATED
WITH HEART
DISEASE
They are prob
lems
that exist in t
he genetic What is a Genetic Factor?
structure of t
he embryo's
chromosomes
and can be What are syndromes?
associated wit
h chromosoma A syndrome is the set of
disorders or d l
isorders that symptoms, signs and external
occur in the m features characteristic of a
utation stage
. generalized disease of genetic
origin (transmitted by genes).

Most Common Types of Syndromes

Down's Syndrome Marfan syndrome

Edwards syndrome

Alagille syndrome Char syndrome

Wolff-Parkinson-white syndrome Trisonomy 13 syndrome

Holt Oram syndrome

What is a congenital heart disease?

A congenital heart disease or congenital heart

disease (CPC) is a heart problem present at birth
and is caused by abnormal formation of the heart
during fetal development.

In most cases, when a baby is born with congenital heart disease, there is no known
reason for it, that is why many scientists think that some types of congenital heart
defects may be related to an abnormality in the number of chromosomes of a baby,
monogenetic (single gene) defects or environmental factors.

Genetic Factors Factors influencing the development of Syndromes

Viral Diseases
Family Background
Mono genetic defects Chronic disease Chromosomal Abnormalities

Etiology
There are at least 35 different types of
congenital heart abnormalities
including ventricular septum (VSD)
abnormalities, valve abnormalities, and
abnormal connections between the
veins, the heart, and the great
arteries.
Congenital heart disease (CHD) are
structural abnormalities of the heart and
large endothoracic vessels present at birth;
They affect 0.8-1 child per 100 live births and
are the most common type of birth defect, 1
accounting for approximately one third of
all major birth defects.

Aortic Valve Stenosis Types of congenital heart disease

Tetralogy of Fallot Aortic narrowing Interatrial Communication

Persistent ductus arteriosus Ventricular communication

Transposition of the great vessels Persistence of the Ductus Arterial Canal Left Heart Hypoplasia

Realizado por: María F Ortega, Milena Cely, Daya Ramirez, Dayana Guerrero, Angie Sepulveda, Andrea Carvajal y Wendy Franco.
Séptimo semestre - Cardiovascular