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                           CONGENITAL  HEART  DISEASE

                                                          Andrew Ying-Siu Lee, MD,PhD.

       Congenital heart disease comprise about 1% of newborn.  Because of effective medical and surgical treatment, most patients can survive into adulthood.

       Etiology include: hereditary and environmental factors, collagen disease, metabolic disease, infection, radiation, drugs etc.  Common congenital heart diseases in adult are :-

(1)   ATRIAL SEPTAL DEFECT (ASD) :

       Occurs when there is incomplete partition of the two atria in function or structure.  It is the most common congenital heart disease in adult, more frequent in women.

       Patients are usually asymptomatic until after 40 years old when cardiac arrhythmias, pulmonary arterial hypertension, bi-directional shunting of blood flow and later shunting of blood from right to left heart leading to heart failure occur.  Diagnosis include electrocardiogram, echocardiography, cardiac catheterization.

       Medical treatment include antibiotics, antihypertensive, antianginal, antifailure and antiarrhythmic drugs.  If there is obvious left to right shunting (ie. Ratio of pulmonary to systemic circulation greater than 2), cardiac catheterization or surgical intervention is needed.

(2)   VENTRICULAR SEPTAL DEFECT (VSD):

       Occurs when there is incomplete partition of the two ventricles in function or structure.  It is the commonest congenital heart disease, and the defects spontaneously close during infancy in majority of patients.

       When the VSD is small, its usually asymptomatic.  Medium-sized VSD leads to weakness, dyspnea, exercise intolerance, and large VSD leads to growth retardation, frequent respiratory tract infections, pulmonary arterial hypertension, heart failure etc.  Diagnosis include electrocardiogram, echocardiography and cardiac catheterization.

       When the ratio of pulmonary to systemic circulation is greater than 1.5, cardiac catheterization or surgical intervention is needed.

(3)    PATENT DUCTUS ARTERIOSUS (PDA):

       PDA usually close at birth.  In premature newborn, infection or hypoxia condition, the ductus arteriosus remain patent, causing systemic to pulmonary circulation via the ductus and hence pulmonary arterial hypertension and heart failure.

       Therapy include medical treatment with prostaglandin or surgery.  All patients should have antibiotic prophylaxis to prevent infective endocarditis.

(4)    CONGENITAL AORTIC VALVE STENOSIS:

       Majority have no symptom.  Severe congenital aortic valve stenosis may lead to weakness, dyspnea, angina, fainting, arrhythmias, sudden death.  Diagnosis include electrocardiogram, chest X-ray, echocardiography and cardiac catheterization.

       In the young, balloon valvuloplasty or valvulotomy is effective treatment.  In adult, mechanical valve replacement is considered.

(5)    COARCTATION OF AORTA:

       Symptoms include: headache, nose bleeding, cold extremity, intermittent claudication.  Physical examination show weaker femoral pulses (compared to radial), lower blood pressure at upper arm (than that of lower leg), growth of upper limb and chest better than lower limbs.  Under the condition of coarctation of aorta, hypertension can easily raise left ventricular load causing heart failure, and prone to have cerebral hemorrhage, infective endocarditis etc.

(6)    CONGENITAL PULMONARY STENOSIS:

       Mild pulmonary stenosis causes no symptom.  Severe pulmonary stenosis leads to weakness, dyspnea, right heart failure, syncope.  Diagnosis include: chest X-ray, echocardiography, cardiac catheterization.  Therapy include balloon valvuloplasty or surgical valvulotomy.

(7)    TETRALOGY OF FALLOT:

       The commonest cyanotic congenital heart disease.  The anomaly consists of (1) ventricular septal defect, (2) obstruction to right ventricular outflow, (3) overriding of aorta and (4) right ventricular hypertrophy, usually also associated with ASD and PDA.

       Patients usually become cyanosis at birth or by one year old.  Symptoms also include: dyspnea, growth retardation, finger clubbing, polycythemia, sudden onset of hypoxic spells and cyanosis, fainting, syncope, seizure, sudden cardiac death.  Diagnosis include electrocardiogram, chest X-ray, echocardiography, cardiac catheterization.

       Therapy is supportive.  Surgical correction of the anomaly is needed.