Congenital heart disease overview
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Differentiating Congenital heart disease from other Disorders |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Maheep Singh Sangha, M.B.B.S.; Assistant Editor-In-Chief: Kristin Feeney, B.S. [2]
Overview
Congenital heart disease or a congenital heart defect (CHD)[1][2] is defined as an abnormality in cardio-circulatory anatomy or physiology that exists primarily at birth, even if it is discovered much later. It includes structural defects, congenital arrhythmia, and cardiomyopathies. Most heart defects either obstruct blood flow in the heart or vessels near it or cause blood to flow through the heart in an abnormal pattern, although other defects affecting heart rhythm (such as long QT syndrome) can also occur.
Congenital heart diseases mostly result from altered embryonic development of a normal structure or failure of the structure to progress beyond an early stage of embryonic or fetal development. The functional changes seen due to these abnormalities, in turn, may influence the anatomical and physiological development of remainder of the circulation. It includes a number of different problems affecting the heart. It is the most common type of birth defect and is responsible for more deaths in the first year of life than any other birth defects. Many of these defects need to be followed carefully. Some heal over time, others require treatment.
Anatomy
Congenital heart disease involves the malformation of the heart during fetal development. Many forms of congenital heart disease have specific anatomical deviations associated specifically with that condition.
Pathophysiology
Congenital heart disease directly influences the normal mechanical, physical and biomechanical functioning of the heart. There are many forms of congenital heart disease and subsequently, each condition holds its own unique pathophysiology.
Causes
As is common with many congenital related conditions, there are gaps in knowledge regarding the causation of congenital heart disease. Congenital heart disease is multi-factorial in origin, with genetics and environmental factors both playing a role.
Differential Diagnosis
During diagnostic evaluation, it is important to recognize that signs and symptoms of congenital heart disease can be similar to other conditions. Differentiation must be made between other genetic disorders such as trisomy 13, turner's syndrome, down's syndrome, noonan syndrome, ellis-van creveld syndrome and marfan's syndrome.[3]
Epidemiology and Demographics
Congenital heart disease is the most common birth defect, affecting one in every 125 live births. More children die each year from congenital heart disease than from all forms of pediatric cancers combined.
Natural History, Complications and Prognosis
Congenital heart disease is the most common birth defect. With the advancement of surgical technique, there has been significant improvement in the prognosis of congenital heart disease patients.
Diagnosis
Diagnostic Criteria
Diagnosis of a congenital heart disease may occur at any time during a patient's life. The majority of diagnoses are made during childhood, however, some patients can go undetected until adulthood.
History and Symptoms
Patients with congenital heart disease may experience symptom onset during infancy, childhood and even latent symptoms in adulthood. Common symptoms include heart failure, cyanosis, pulmonary hypertension, chest pain, infective endocarditis, tachypnea, tachycardia, andcardiomegaly.
MRI
Magnetic resonance imaging can be helpful as a diagnostic tool in conditions where the echocardiographic findings are inconclusive.
CT
Computed tomography can be helpful as a diagnostic tool in conditions where the echocardiographic findings are inconclusive.
Treatment
Prevention
Prevention is an integral element for expectant mothers. The following details specific behaviors an expectant mother can take to reduce the risk for a congenital heart defect.
References
- ↑ Brickner ME, Hillis LD, Lange RA (2000). "Congenital heart disease in adults. Second of two parts". N Engl J Med. 342 (5): 334–42. doi:10.1056/NEJM200002033420507. PMID 10655533.
- ↑ Braunwald Zipes Libby. Heart disease: A textbook of cardiovascular medicine, 6th Edition chapter 43 : W.B. Saunders ; . pp 1505
- ↑ Epstein AE, DiMarco JP, Ellenbogen KA, Estes NAM III, Freedman RA, Gettes LS, Gillinov AM, Gregoratos G, Hammill SC, Hayes DL, Hlatky MA, Newby LK, Page RL, Schoenfeld MH, Silka MJ, Stevenson LW, Sweeney MO. ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices). Circulation. 2008; 117: 2820–2840. PMID 18483207