Heart Defects: Causes, Symptoms & Treatment

A heart defect or heart vitium is a general term for disorders of the structure and composition of the heart. Heart defects are divided into acquired heart defects (caused by infections or heart disease, for example) and congenital heart defects. Congenital heart defects are mostly heart malformations that can be detected and treated in the womb or in the newborn. Nevertheless, heart defects usually require lifelong therapy.

What is a heart defect?

The word heart defect is the generic term for both congenital malformations of the heart and congenital or acquired valvular heart defects. Further, congenital heart defects are divided into azynotic or cyanotic heart defects. Cyanosis is the blue-red discoloration of the skin and mucous membranes due to a decrease in the oxygen content of the blood (central cyanosis). The most common acyanotic heart defect is pulmonary stenosis and the second place is shared by aortic valve stenosis (narrowing) and aortic isthmic stenosis. Rather rarely, malformations of the aortic arch occur. Primary acyanotic heart defects include defects of the atrial and/or ventricular septa and ductus arteriosus apertus. Primary cyanotic heart defects include tetralogy of Fallot, hypoplasia of the right or left ventricles, pulmonary vein malformations, and others.The incidence of congenital heart defects is 6-10 newborns per 1000 live births.

Causes

Embryonic cardiovascular development occurs between days 14 and 60 of pregnancy. During this developmental period, the cardiovascular system is sensitive to external and genetic factors. Often, certain exogenous, or external, influences produce specific cardiac abnormalities. For example, excessive alcohol consumption during pregnancy often leads to septal defects and tetralogy of Fallot (pulmonary stenosis, atrial septal defect, right heart hypertrophy and displaced aorta). Drug administration during pregnancy should always be weighed, as multiple cardiac defects may also develop. Certain antiepileptic drugs can cause pulmonary and/or aortic stenosis. If certain diseases of the mother exist during pregnancy – such as diabetes mellitus – there is an increased risk of ventricular septal defects, especially if a poor metabolic condition prevails. Some infectious diseases during pregnancy are also dangerous and can cause a heart defect – for example, rubella embryopathy, which can lead to persistent ductus arteriosus. Heart defects are clustered in certain genetic syndromes and chromosomal maldistributions (internal or endogenous factor). Ventricular and/or atrial septal defects of varying severity are typical in trisomy 21 or Down syndrome. In Marfan syndrome, mitral and tricuspid valve prolapse or aortic dilatation occur because of a substance defect of the connective tissue. Acquired heart defects occur in the course of life. Infectious inflammations usually lead to valve defects, most of which require surgical correction. More common are degenerative valve changes, which can be observed for the time being and operated on when a certain degree of severity is reached.

Symptoms, complaints, and signs

A heart defect often evokes a weakness in the performance of the heart. As a result, the affected person is physically less efficient and exhausted more quickly during exertion. Breathing difficulties and cardiac arrhythmias are also typical, and these also increase as the disease progresses. The clinical picture also includes fluctuations in blood pressure and circulatory disorders. Thromboses can form as a result of increased blood clotting. In the worst case, this can lead to a stroke or heart attack. The general symptoms initially occur only during physical activity and persist permanently in the advanced stages. In general, the symptoms of a heart defect resemble those of cardiac insufficiency. Accordingly, water retention, fatigue and palpitations may also occur. Depending on its cause, a heart defect can cause numerous other symptoms and complaints. If, for example, a so-called mitral stenosis is the underlying condition, a bloody cough and increasing chest pain will occur. Externally, bluish lips and bluish-red cheeks can often be noticed. If the heart defect is aortic stenosis, there may be reduced blood flow to the heart muscle.This manifests itself, among other things, as dizziness, brief fainting spells and the typical symptoms of angina pectoris. The signs of a congenital heart defect can already appear in the first years of life and develop insidiously. Some individuals experience no symptoms at all.

Complications

Heart defects can lead to various complications. Congenital heart defects are basically at risk of heart muscle weakness and hypoxia of the organs. Depending on the type and severity of the heart defect, a variety of cardiac problems can occur during life. This can lead to arrhythmias and pain, but also to severe organ damage or infarctions. The increased production of red blood cells can also lead to thickening of the blood. This increases the risk of strokes, vascular thrombosis and heart attacks. If a congenital heart defect is not treated, it can also lead to severe inflammation, cardiac arrhythmias or diseases of the heart valves. Sometimes permanent lung damage and diseases of the internal organs also occur. Heart defects that develop as a result of inflammation, stress, or excessive drug use can cause a number of other complications, depending on the particular cause. Surgical treatment of a heart valve defect can also lead to complications. For example, the heart-lung machine can alter blood clotting, cause temporary renal failure, and sometimes lead to life-threatening vein occlusions. Post-surgical complications can include bleeding and infection, as well as temporary psychological complications.

When should you see a doctor?

People who suffer from frequent fatigue and exhaustion for no apparent reason should consult a doctor. This is especially true if the symptoms increase over time. A gradual decrease in performance, often associated with shortness of breath and weakness, indicates an acquired heart defect. A physician must clarify the symptoms and, if necessary, initiate therapy directly to reduce the risk of serious complications. If signs of mitral stenosis become apparent, a physician must be consulted immediately. Above all, a bloody cough and external signs such as bluish lips and bluish-red cheeks require examination. Water retention and other unusual symptoms that cannot be attributed to any specific cause must also be seen by a doctor. A congenital heart defect also requires immediate evaluation as soon as the first symptoms are noticed. Cardiac arrhythmias, pain and cramps should be investigated immediately. If an infarction occurs, the emergency medical services must be called. Accompanying first aid measures must be administered. A diagnosed heart defect requires close monitoring by a cardiologist.

Treatment and therapy

Treatment of congenital or acquired heart defects requires lifelong specialized cardiologic care. Despite necessary surgical corrections, residual and secondary conditions usually persist. These usually occur when heart defects were corrected in early childhood. This cardiac surgery distinguishes between palliative and corrective surgery to correct heart defects. Corrective surgery aims to restore the normal functional state. As a result, life expectancy may return to normal. Palliative surgery for heart defects is performed for severe abnormalities. However, this also includes heart or heart-lung transplants. Nowadays, valve surgery is most commonly performed. Biological valves (from pigs, cattle, or horses) or mechanical artificial prostheses are used.

Outlook and prognosis

The prognosis for an existing heart defect varies widely, because the severity of the heart defect must be considered. In addition, the time of diagnosis also plays a major role. The earlier the heart defect is detected, the better the chances of a complete and rapid recovery. Ever-advancing medical technology now allows very good chances for newborns with a heart defect to reach adulthood. In general, a congenital heart defect is considered a chronic disease. However, those who seek medical and drug treatment at an early stage can positively influence their outlook and prognosis.The quality of life can thus be maintained. Those who decide against permanent treatment must expect serious complications. Under certain circumstances, severe chest pain and febrile convulsions may occur. In the worst case, cardiac arrest is imminent. If life-saving measures are not taken, death occurs.

Prevention

An important preventive measure for corrected or existing congenital or acquired heart defects is endocarditis prophylaxis during procedures with a possible risk of infection, such as dental procedures. This can prevent inflammation and subsequent defects of the heart valves, especially in the case of pre-existing heart defects. Every patient with heart defects should always carry a heart passport and present it at every visit to the doctor. Similarly, one should refrain from drinking alcohol during pregnancy and ensure adequate vaccination status before the start of pregnancy to prevent heart defects in the newborn child.

Follow-up care

Anyone suffering from a heart defect should by no means take this lightly. Appropriate follow-up care is essential. Otherwise, there is a risk of serious complications and, in the worst case, even death. Affected individuals should have an existing heart defect regularly monitored by a specialist. Such check-ups can detect potential dangers at an early stage. Various measures can then be taken to eliminate possible dangers or complications. Those who forego regular visits and check-ups expose themselves to a very great danger. An unexpected heart attack or the cessation of the heartbeat are only two consequences of many that can occur in such a case. A worsening of the condition cannot be detected without proper follow-up care. Anyone suffering from a congenital or sudden heart defect should not neglect appropriate follow-up care under any circumstances. The heart is our most important and central organ, without which the human body is not viable. This makes follow-up care for an existing heart defect all the more significant.

This is what you can do yourself

People who suffer from a heart defect do not necessarily have to restrict themselves in everyday life. However, depending on the nature of the symptoms, a few things should be observed to avoid complications. First of all, with regard to the type of heart defect, it is important to create an individual therapy together with the doctor, which includes physical exercise, dietary measures and medical treatment. The diet should be composed in such a way that the heart is not put under additional strain. A healthy diet with lots of fiber-rich foods and polyunsaturated fatty acids is recommended. Many sugars, white flour and animal fat should be avoided. Those affected should also refrain from smoking and enjoy other stimulants such as coffee and alcohol only in moderation. In addition, heart patients benefit from individually tailored exercise training and regular stress reduction. Yoga exercises and breathing exercises are recommended, for example. If necessary, a physiotherapist or occupational therapist can be consulted. Help from other people – for example in a self-help group – can also be useful in accepting the condition and learning new strategies for dealing with the heart defect more effectively. Of course, this is always accompanied by close medical monitoring. The diseased heart must be examined regularly, especially if there are unusual symptoms or complaints.