Congenital Heart Disease & Indications for Echo (1)

____ is the most common congenital disorder in newborns

Congenital Heart Disease (CHD)

Prevalence of CHD is approximately _____ per ____ live births (approximately 1%)

8-9, 1000

____% of CHD is isolated and ___% is associated with other anomalies.

70, 30

Incidence of CHD in the fetus has been reported to be as much as ___x higher than found in live born children, due to miscarriage, in utero demise, termination of pregnancy.

5

Most common incidence in CHD

VSD (3.6 in 1000 live births)

CHD that is most likely associated with chromosomal abnormalities includes

VSD, AVSD, and tetralogy of fallot

CHD that is least likely to associated with abnormal chromosomes

D-TGA and heterotaxy

CHD most likely associated with non cardiac anomalies

Tetralogy of fallot

coarctation

pulmonary stenosis

Maternal indications for fetal echo

-autoimmune disease (lupus, Sjogren disease)

-familial inherited disorders (22q11.2 deletion)

-IVF
-Metabolic disease (diabetes, Phenylketonuria (PKU))

-teratogen exposure (anticonvulsants, lithium, retinoic acids, NSAID’s)

Common CHD seen in fetus with mother of autoimmune disease (such as lupus or syogrens syndrome)

CHB (complete heart block) or Constricted DA

Common CHD seen in fetus of mother of IVF

VSD, ASD, TGA

Common CHD in fetus of mother with a metabolic issue (diabetes or PKU)

TGA, TOF, TA, hypertrophic cardiomyopathy, heterotaxy.

Common CHD in fetus of mother with teratogen exposure

variable

Fetal indications for fetal echo

-abnormal OB US

-first degree relative of a fetus with CHD

-Abnormal HR

-Fetal chromosome abnormality

-Extra-cardiac abnormality

-Hydrops

-Increased NT

-Mono twins

Percentage risk of fetal CHD if + for fetal chromosomal abnormality

30-90%

Percentage risk of fetal CHD if mono twins

3-7%- VSD, ASD

Percentage risk of fetal CHD if first degree relative has CHD

2-12%Percentage risk of fetal CHD if

Common CHD in fetus with arrhythmia

AVSD or CHF

Percentage risk of fetal CHD if hydrops is present

10-13%- cardiomyopathy or arrhythmia

Percentage risk of fetal CHD if increased NT

3%- left heart defects

Most increased risk with what degree relative to the fetus has CHD

the mother of the fetus

• then two or more affected sibling

• one affected sibling

• father of fetus

(DOES NOT HAVE TO BE THE SAME TYPE OF DEFECT)

Syndrome associated with DiGeorge Syndrome (22q11.2 deletion)

Conotruncal defects (Ao/ PA)

VSD

(95% risk)

almost every conotruncal defect has a ____

VSD

Syndrome associated with Noonan Syndrome

Pulmonary Stenosis (65%).

Syndrome associated with William Syndrome (7q11.23 deletion)

Aortic stenosis

pulmonary stenosis

VSD

(100%)

Syndrome associated with Trisomy 13 (Patau)

VSD and ASD (90+%)

Syndrome associated with Trisomy 18 (Edwards)

VSD

ASD

TOF

DORV (double outlet rt vent)

PS

(99%)

Syndrome associated with T21 (downs)

AVSD

VSD

ASD

TOF

(50%)

Syndrome associated with Turners (45x)

coarctation

ASD (prob related to coarc)

Aortic stenosis

(25%)

Syndrome associated with Holt Oram (defects of extremities)

PS and Ao stenosis

Common CHD associated with alcohol

VSD, ASD, conotruncal defects, TGA

Common CHD associated with amphetamine

VAS, ASD, TGA

Common CHD associated with anticonvulsants

VSD, ASD, HLHS, TOF, TGA

Common CHD associated with indomethacin

Premature closure of ductus arteriosus

Common CHD associated with ACE inhibitors and antidepressants

ASD and VSD

Common CHD associated with Lithium

EBSTEIN, tricuspid atresia, ASD, Mitral atresia