Congenital heart disease is a defect in a single or several structures of the heart or blood vessels present at birth, as a result of some problems during pregnancy at the developmental stage of the fetus. A few such birth defects of the heart may not manifest in complications going forward, but some complex anomalies can lead to life-threatening conditions.

Adult congenital heart disease or ACHD is often not detected till such time the person attains adulthood. Once ACHD is established, the patient will require lifelong medical care and observation.

Known risk factors for congenital heart disease:

Research has revealed that a few environmental as well as genetic factors could play a part, including:

Genetic link: Congenital heart diseases are quite often seen to run in families and doctors feel could be linked to genetic syndromes like Down syndrome and other problems during the baby’s development phase.
Rubella: Catching German measles or rubella during pregnancy can affect the development of the baby’s heart inside the mother’s womb.
Diabetes: When a pregnant woman suffers from diabetes, it can also upset the development of the baby’s heart.
Medicines: A few drugs have also been associated with congenital heart defects, including lithium, usually prescribed for bipolar disorder and isotretinoin, used in the treatment of acne.
Alcohol consumption: Alcohol intake during pregnancy can also result in birth anomalies in the baby.
Cigarette smoking: Chances of the baby having congenital heart disease increases significantly if the mother smokes during pregnancy.

Congenital Heart Disease

Possible complications which can develop later:

Adverse effects can manifest even many years later. These could include:

Arrhythmias: These conditions are marked by irregular heartbeats triggered by faulty electrical signals that coordinate the heart’s beating. Subsequently, heartbeats can become too rapid or too slow or erratic, and can lead to a stroke or sudden cardiac death if not treated on an emergency basis.
Endocarditis: An infection of the heart’s inner lining or the endocardium, generally caused by microorganisms entering the bloodstream and moving into the heart. Endocarditis can cause a stroke or damage heart valves if not treated urgently.
Stroke: When there’s a congenital heart abnormality, a blood clot can pass through the heart and reach the brain. This rogue clot can then block blood supply, leading to a stroke.
Pulmonary hypertension: There are a few birth defects of the heart which can pump excessive blood to the lungs, elevating pressure on the arteries of the lungs. This condition is called pulmonary hypertension and can lead to heart failure.
Heart failure: A few congenital heart defects can lead to congestive heart failure, a condition where the heart can’t pump enough blood to meet the body’s needs.

Diagnosis of congenital heart disease:

The cardiologist usually carries out a physical examination first, listening to the heart’s sound, while recording family history and medical parameters.

Tests to diagnose congenital heart disease include:

ECG: To diagnose irregular heartbeats and clogged arteries
Chest X-ray: Is capable of showing up changes in size and shape of the heart as well as lung issues
Pulse oximetry: Measures oxygen saturation in the blood
Echocardiogram: Analyzes the heart’s pumping action
Transesophageal echocardiogram: This test is performed under sedation, and can provide more accurate and detailed images of the heart when required
Cardiac CT scan & MRI: These imaging techniques are used to produce a clutch of images of various sections of the heart and the chest
Cardiac catheterization: With the patient under sedation, a catheter is gently inserted into a blood vessel in the groin, neck or arm and pushed up to the heart to measure blood flow and blood pressure in the heart

Treatment protocols for ACHD:

Treatment regimens for adult patients are curated taking into account the severity of the issue and can involve plain observation, medication or surgery.

Monitoring: Some mild abnormalities simply need monitoring and regular reviews
Medications: Often, medicines are prescribed for mild congenital heart defects to make sure the heart works more proficiently and to prevent clots or control arrhythmias
Surgical procedures: When mere monitoring and medication won’t suffice, there are surgeries and procedures like implantable heart devices, catheterization techniques, open-heart surgery or even a heart transplant when a serious heart abnormality can’t be reversed
Follow-up care: In adult congenital heart disease, lifelong follow-up care is absolutely vital, irrespective of whether you have had an intervention or not