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Congenital Heart Disease


Congenital heart disease is characterized by presence of defect in the heart’s structure or blood vessels that take place during fetal development. The condition is also referred to as congenital heart defect.


Signs and symptoms of congenital heart disease do not show up until late adulthood. Many children may have heart defects, but would not present with any symptoms. In certain cases, adults who have had congenital heart defects can experience some of the following symptoms later in life [8]:

Down Syndrome
  • Children who have genetic disorders, such as Down syndrome, often have congenital heart defects. In fact, half of all babies who have Down syndrome have congenital heart defects.[web.archive.org]
  • Characteristics associated with Down syndrome are observed in newborns; on the other hand, children under 10 months of age and neonates may show little or no signs of the Klinefelter syndrome.[ncbi.nlm.nih.gov]
  • We present the anesthetic management for a 2-year old with Down syndrome and complex cyanotic congenital heart disease undergoing tonsillectomy and adenoidectomy for severe obstructive sleep apnea.[ncbi.nlm.nih.gov]
  • Other Heart Related Problems in Down Syndrome In addition to the heart defects associated with Down syndrome, high blood pressure in the lungs (pulmonary hypertension) is more common in people with Down syndrome.[downsyndrome.nacd.org]
  • Problems with chromosomes that result in genetic syndromes, such as Down syndrome, often result in a higher incidence of infant heart malformations. Among infants with chromosome abnormalities, around 30% will have a heart defect.[lpch.org]
Congestive Heart Failure
  • Synonyms for congenital heart disease noun disease of the heart angina congestive heart failure cardiac infarction coronary thrombosis ischemic heart disease myocardial infarction Roget's 21st Century Thesaurus, Third Edition Copyright 2013 by the Philip[thesaurus.com]
  • Utility of B-type natriuretic peptide in differentiating congestive heart failure from lung disease in pediatric patients with respiratory distress. Pediatr Cardiol 2004;25:341–6. Savitsky E, Alejos J, Votey S.[emergencymedicinecases.com]
  • If severe symptoms of high blood pressure and congestive heart failure develop, and surgery may be considered. Aortic stenosis (AS) .[stanfordhealthcare.org]
  • If untreated, it may lead to congestive heart failure.[icd9data.com]
  • Identify the signs and symptoms of congestive heart failure in infants. Describe the pathophysiology of the more common cyanotic heart defects. Introduction Significant congenital heart disease (CHD) may be diagnosed at virtually any age.[pedsinreview.aappublications.org]
Failure to Thrive
  • Abstract We report the case of a 3,5 month-old infant presented at cardiology consultation of our institution for investigation of a heart murmur associated with failure to thrive and respiratory distress.[ncbi.nlm.nih.gov]
  • GERD also shares a number of symptoms experienced by infants with congenital heart disease such as weight loss and failure to thrive due to vomiting or poor intake of calories, as well as chronic respiratory or breathing symptoms such as cough, asthma[coliccalm.com]
  • Surgery may be needed if there is failure to thrive despite medication, or concern about pulmonary hypertension. If a large VSD is present, surgery is almost always recommended.[downsyndrome.nacd.org]
  • There may be failure to thrive or just difficulty in joining in with games and sports with other children. A right-to-left shunt can permit paradoxical embolism that may present with a systemic embolism such as a stroke .[patient.info]
  • There may be failure to thrive or just difficulty in joining in with games and sports with other children. A right-to-left shunt can permit paradoxical embolism that may present with a systemic embolism such as a stroke.[patient.info]
Heart Disease
  • CONCLUSIONS: Low-physically active children with congenital heart disease have increased arterial stiffness compared to high-physically active children with congenital heart disease and healthy-matched controls.[ncbi.nlm.nih.gov]
  • To participate in this study, you must be an adult with congenital heart disease with or without a family member with congenital heart disease. This study is located in Columbus, Ohio.[nhlbi.nih.gov]
  • Less common presentations were low SaO2 (27.4%), tachycardia (24.2%), and cyanosis (24.2%). Common combination of presentations were murmur and tachypnea (38.7%); cyanosis and low SaO2 (24.19%); and low SaO2 and tachypnea 15(24.19).[ncbi.nlm.nih.gov]
  • KEYWORDS: Late diagnosis; cyanosis; polycythaemia; pulmonary vascular disease[ncbi.nlm.nih.gov]
  • Babies who have congenital heart defects may have cyanosis and/or tire easily when feeding. As a result, they may not gain weight or grow as they should.[web.archive.org]
  • Babies who have congenital heart defects may have cyanosis and tire easily while feeding. As a result, they may not gain weight or grow as they should.[web.archive.org]
  • These babies truncus arteriosus have cyanosis in proportion to how hard it is to get blood into the lungs.[pediatrics.wisc.edu]
Heart Murmur
  • Heart defects can cause abnormal blood flow through the heart that will make a certain sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. However, not all murmurs are signs of congenital heart defects.[web.archive.org]
  • Heart defects can cause heart murmurs (extra or unusual sounds heard during a heartbeat). Doctors can hear heart murmurs using a stethoscope. However, not all murmurs are signs of congenital heart defects. Many healthy children have heart murmurs.[web.archive.org]
  • Abstract We report the case of a 3,5 month-old infant presented at cardiology consultation of our institution for investigation of a heart murmur associated with failure to thrive and respiratory distress.[ncbi.nlm.nih.gov]
  • After birth, congenital heart disease is often first detected when the doctor hears an abnormal heart sound or heart murmur when listening to the heart.[childrensheartfoundation.org]
  • Others are diagnosed at various ages subsequent to the detection of a heart murmur as part of routine screening or during clinical examination for intercurrent illness. Heart murmurs.[patient.info]
Skeletal Dysplasia
  • […] oxycephaly Isolated plagiocephaly Isolated scaphocephaly Isolated trigonocephaly Jackson-Weiss syndrome Jeune syndrome Joubert syndrome with Jeune asphyxiating thoracic dystrophy Lethal congenital contracture syndrome type 1 Lethal occipital encephalocele-skeletal[se-atlas.de]


The following diagnostic tests are employed for detecting congenital heart disease:

  • Electrocardiogram: This is required for measuring electrical signals of the heart. The type of pattern exhibited in the results can detect various types of heart defects [9].
  • Echocardiogram: This method makes use of sound waves for detecting heart abnormalities:
  • Imaging studies: Imaging studies such as CT scan and MRI are also indicated in diagnosing congenital heart defect.
  • Cardiac catheterization: Such a kind of test is done to measure the blood flow to the heart and the pressure in its chambers.
  • Stress test: Stress test is performed in order to evaluate heart rate, blood pressure and electrical activity of the heart during periods of stress such as exercise. 
Right Ventricular Hypertrophy
  • Right ventricular hypertrophy (hi-PER-tro-fe). In this defect, the muscle of the right ventricle is thicker than usual because it has to work harder than normal.[medicinenet.com]
  • ventricular hypertrophy and a right-to-left shunt across a VSD, which also has an overriding aorta Transposition of Great Vessels The aorta arises from the right ventricle and the pulmonic trunk from the left ventricle.[library.med.utah.edu]
  • ventricular hypertrophy is present after the age of one month.[emergencymedicinecases.com]


  • Treatment of congenital heart disease depends on severity of the condition. Mild form of the disease seldom requires any treatment. In such cases, medications may help the heart function more efficiently. 
  • In more advanced cases, pacemakers may have to be implanted for controlling arrhythmias. In addition, cardioverter defibrillator can also be implanted for preventing the complications from setting in.
  • Catheters can be used for repairing heart defects without the need for surgery. In conditions, when catheters are of little use, then open heart surgery is opted for. When no procedures seem to work, and the condition of the individual is very serious, then heart transplantation is the last resort.


With advancements in medical treatment, children born with congenital defect can now successfully survive the condition and lead a healthy life. However, adults with congenital heart disease need to be careful and follow certain precautionary measures. Failure to do so can cause development of serious complications. Regular monitoring is necessary throughout the life. In many instances, congenital heart defects are not diagnosed during infancy, which can be a cause of significant disability as the person ages [6, 7].


Interplay of genetic and environmental factors give rise to condition of congenital heart disease. Genetic changes characterized by focal mutations and/or deletion or addition of DNA segments are the major cause that trigger development of anatomical defects in the heart during fetal development. Large chromosomal abnormalities including trisomies 13, 21 and 18 are known to contribute in 5 – 8% cases of congenital heart defects.

In addition to genetic defects, various antenatal factors such as alcohol abuse, smoking, drug overdose and maternal diseases including diabetes, systemic lupus erythematosus and phenylketonuria also significantly contribute to development of congenital heart disease. Several studies have also pointed towards a strong association between maternal obesity and development of congenital heart disease [2, 3].


Congenital heart disease is most common cause of mortality and was associated with 223,000 deaths across the globe in the year 2010. The incidence of mortality has however decreased since the year 1990, owing to advancements in medical treatments that has enabled children to survive the disease [4].

Statistics have revealed that about 8 – 10 out of every 1000 children are affected by congenital heart defects. It was also estimated that about 500, 000 adults in USA have suffered congenital heart disease during childhood.

Sex distribution
Age distribution


Heart defects take place during fetal development. In the first months of gestation, the heart begins to beat, though the heart is not fully developed at this stage. During the later stages, all the 4 chambers of the heart develop and at this point anomalies can arise. Genetic mutations at this stage or environmental factors can cause such type of structural anomalies to develop.
On the 28th day of development, failure of the endocardial cushions to fuse results in development of heart defect. Such a type of event causes the blood to leak into the chambers. All these events favor the development of congenital heart disease [5].


Avoiding alcohol consumption and smoking during pregnancy can help prevent development of congenital heart disease. Effective management of underlying disease conditions such as diabetes and hypertension can also go a long way in preventing the risk of heart defects during fetal development. Regular health checkups would be indicated to prevent complications from setting in [10].


It is considered to be one of the most common types of congenital defect. Several advances in medical treatment have allowed children with congenital heart disease to survive the condition and lead a healthy life. However, such children do need additional care during their growing up years and also when they reach adulthood. This is because, if care and precautions are not seriously followed, it can give rise to various complications later in life [1].

Patient Information

  • Definition: Congenital heart diseases are heart defects present during fetal development. It is one of the most common forms of birth defects that is a cause of mortality amongst the affected population.
  • Cause: Various environmental and genetic factors lead to development of congenital heart defects. Smoking, alcohol consumption and exposure to drugs during pregnancy are known to increase the risk of heart defect during fetal growth. Genetic mutations also cause congenital heart defects.
  • Symptoms: In preliminary stages, congenital heart defects seldom produce any symptoms. When the disease progresses to more advanced stages, individuals experience shortness in breath, arrhythmia, cyanosis, dizziness, tiredness after physical exertion and onset of edema.
  • Diagnosis: Physical examination would reveal abnormal heart rhythms indicating need for further diagnosis. Other tests include echocardiogram, electrocardiogram, and chest x-ray, imaging studies, cardiac catheterization and stress test during exercise.
  • Treatment: Mild form of heart defect does not require any treatment. In such cases, medications may be sufficient to allow normal functioning of heart. Implantable devices such as pacemakers and cardioverter defibrillator would be required to normalize the blood flow and prevent associated complications from developing. Open heart surgery or heart transplant may be required when other treatment methods fail.



  1. Danford DA, McNamara DG. Infants with congenital heart disease in the first year of life. In: The Science and Practice of Pediatric Cardiology, Garson A, Bricker JT, Fisher DJ, Neish SR (Eds), Williams & Wilkins, Baltimore 1998. p.2228.
  2. Alverson CJ, Strickland MJ, Gilboa SM, Correa A. Maternal smoking and congenital heart defects in the Baltimore-Washington Infant Study. Pediatrics 2011; 127:e647.
  3. Cohen LS, Friedman JM, Jefferson JW, et al. A re-evaluation of risk of in utero exposure to lithium. JAMA 1994; 271:146.
  4. Boneva RS, Botto LD, Moore CA, et al. Mortality associated with congenital heart defects in the United States: trends and racial disparities, 1979-1997. Circulation 2001; 103:2376.
  5. Talner CN. Report of the New England Regional Infant Cardiac Program, by Donald C. Fyler, MD, Pediatrics, 1980;65(suppl):375-461. Pediatrics 1998; 102:258.
  6. Kuehl KS, Loffredo CA, Ferencz C. Failure to diagnose congenital heart disease in infancy. Pediatrics 1999; 103:743.
  7. Liberman RF, Getz KD, Lin AE, et al. Delayed diagnosis of critical congenital heart defects: trends and associated factors. Pediatrics 2014; 134:e373.
  8. Wren C, Richmond S, Donaldson L. Presentation of congenital heart disease in infancy: implications for routine examination. Arch Dis Child Fetal Neonatal Ed 1999; 80:F49.
  9. Garson A. The electrocardiogram in infants and children: a systematic approach, Lea & Febiger, Philadelphia 1983.
  10. Liu S, Joseph KS, Lisonkova S, et al. Association between maternal chronic conditions and congenital heart defects: a population-based cohort study. Circulation 2013; 128:583.

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Last updated: 2018-06-21 22:30