Congenital Heart Defects

What is it?

Congenital heart defects are structural malformations occurring in about 8/1000 fetuses. They are caused by abnormal develpment of hearth chambers and vascular connections. Cardiac defects are an heterogeneous group of conditions ranging from mild and subclinical forms to severe life-treatening conditions or even incompatible with postnatal life, if untreated.  Diabetes mellitus and teratogenic drugs are common risk factors. Risk of chomosomal abnormalities (trisomy 21, 18 or 13), microdeletions (such as 22q11 or Di George syndrome) and other rare single gene disorders involve about 20% of all cases. 

Which are the symptoms?

Pregnant patients with fetal anomalies do not refer specific symptomps. The clinical picture is detected at prenatal ultrasound.  Fetal and neonatal symptomps include abnormal heart imaging at ultrasound, chest abnormalities and associated malformations in complex forms:

  • Abnormal four chambers view
  • Abnormal three vessel and trachea view
  • Abnormal heart rhythm
  • Abnormal hear tshape, size
  • Abnormal vascular connections (arterial outflow tracts or venour return)

How is it diagnosed?

Diagnosis of all fetal malformations is based upon fetal ultrasound assessment. Diagnosis of congenital heart defects is challenging in the first trimester in which period it can be suspected by abnormal size of the heart chambers and abnormal Doppler flows. In the second trimester the diagnosis can be carried out in expert hands for most cases  by ultrasound assessment including fetal echocardiography. The diagnostic path includes detailed ultrasound scan with fetal cardiac scanning, amniocentesis or CVS to exclude associated chomosomal or genetic conditions.

Suggested exams

How is it treated?

Delivery management and postnatal treatment is rather heterogeneous according to the heterogeneity of this group of conditions. It is debated whether prenatally diagnosed cardiac defects requires or not delivery with cesarean section in order to improve the outcome. In most cases vaginal delivery can be proposed safely and induction of labour is discussed at term. The classic treatment is carried out at birth with repair of the defect in order to restore anatomy and function.  In utero treatment of some cardiac defects was proposed, however the extent to which this approach can be applied in individual patients is still debated and limited to severe aortic or pulmonic stenosis (percutaneous ultrasound guided fetal surgery for fetal balloon valuloplasty). Fetal surgery with valvuloplasty was shown to reduce the need for univentricular circulations as compared to cases with no prenatal intervention.

Where do we treat it?

Within the San Donato Group, you can find Congenital Heart Defects specialists at these departments:

Are you interested in receiving the treatment?

Contact us and we will take care of you.