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Cyanotic Congenital Heart Disease

Cyanotic Congen Heart Dis

Cyanotic congenital heart diseases (CHD) such as tetralogy or pentalogy of Fallot, L- or D- transposition of great arteries, total anomalous pulmonary venous connection, truncus arteriosus or tricuspid valve abnormalities are severe, potentially life-threatening conditions. Clinical presentation may differ, as newborns may be discharged from the hospital before they develop symptoms, thus delaying diagnosis.


Parents should be alarmed by unsatisfactory ponderal gain, cyanosis (permanent or due to the effort of feeding), profuse perspiration, apathy, fast or difficult breathing, persistent wheezing or coughing in the supine position. Infants may sleep more than normal and have diminished activity in general [1].

A particular problem is represented by tet spells. These appear in children with cyanotic CHD such as tetralogy of Fallot, severe pulmonary stenosis or atresia or other decreased pulmonary blood flow malformations. Tet spells consist of inconsolable crying with increasing cyanosis and hyperpnoea and may lead to the loss of consciousness and even death. Older children instinctively adopt a squatting position, thus increasing systemic vascular resistance and blood flow to the lungs [2].

Blood saturation may differ in different regions of the body, so upper extremities may be more pink than lower extremities (differential cyanosis, found in patent ductus arteriosus with pulmonary hypertension or preductal coarctation of the aorta associated with patent ductus arteriosus ) or more bluish than the lower extremities (reversed differential cyanosis, found in transposition of the great arteries with patent ductus arteriosus and elevated pulmonary vascular resistance or in TGA with PDA and preductal aortic interruption or coarctation [3].

Presentation of children with ductal-dependent CHD dramatically changes as the ductus arteriosus changes. Thus, symptoms depend on whether the pulmonary circulation or the systemic circulation depend on the patency of the ductus arteriosus.

  • Management 4 See also 5 References 6 External links Signs and symptoms [ edit ] Clubbing The patient assuming a crouching position Cyanosis - bluish face, particularly the lips; and bluish fingers and toes Crying Crabbiness/irritability Tachycardia Tachypnea[en.wikipedia.org]
  • […] failure: parasternal heave and palpable P2 (pulmonary hypertension), elevated JVP, hepatomegaly, and peripheral edema (right-sided failure), displaced apical impulse (enlarged LV) Respiratory Examination Observe for signs of respiratory distress like tachypnea[learn.pediatrics.ubc.ca]
  • Signs and symptoms 1.1 Complications 2 Diagnosis 2.1 Types 3 Management 4 See also 5 References Signs and symptoms [ edit ] Shortness of breath Congested cough Diaphoresis Fatigue Frequent respiratory infections Machine-like heart murmur Tachycardia Tachypnea[en.wikipedia.org]
  • In the absence of a VSD, as the PDA closes, patients may develop intense cyanosis, tachypnea and tachycardia.[hawaii.edu]
  • Bedside Pearl : The tachypneic infant who appears to be struggling to breath (i.e. increased work of breathing) usually has an underlying respiratory cause vs. the infant who is displaying ‘silent tachypnea’, without increased work of breathing is usually[emergencymedicinecases.com]
  • He presented with two weeks' history of progressive generalized body swelling, oliguria and orthopnea. Oliguria did not improve, and the generalized body swelling did not subside with the administration of diuretics. Dipstick urinalysis remained 3 .[ncbi.nlm.nih.gov]
Periodic Breathing
  • Even in the absence of heart disease, acute and chronic hypoxia have been shown to promote sleep-related periodic breathing with central apnea characterized by a repetitive reduction or lack of respiratory activity.[ncbi.nlm.nih.gov]
Abdominal Distension
  • Abstract Three infants with cyanotic congenital heart diseases (CCHD) had abdominal distension, poor activity at day 2, day 3, and day 23. The abdominal roentgenograms showed dilated bowel loops, pneumatosis intestinalis, and pneumoperitoneum.[ncbi.nlm.nih.gov]
  • In these patients, the coincidence of cyanosis and jaundice caused an atypical green-appearing cutaneous discoloration which masked the early clinical detection of biliary atresia in one infant and cyanotic heart disease in the other two.[ncbi.nlm.nih.gov]
Heart Disease
  • CONCLUSION: Tetralogy of Fallot or variants was the commonest cyanotic heart disease in neonates with frequency of 27.27%. Majority of neonates with congenital cyanotic heart disease showed survival with appropriate management.[ncbi.nlm.nih.gov]
  • Four patients, 27 to 47 years of age, with cyanotic congenital heart disease were enrolled from the Outpatient Clinic of the Ahmanson/UCLA Adult Congenital Heart Disease Center.[ncbi.nlm.nih.gov]
  • OBJECTIVE: Cyanotic congenital heart disease is a systemic disease, with effects on multiple organ systems. A high prevalence of subclinical hypothyroidism (SCH) has been reported in a small cohort of cyanotic congenital heart disease patients.[ncbi.nlm.nih.gov]
  • CONCLUSION: There is an increased prevalence of migraine with aura in both cyanotic and acyanotic patients with congenital heart disease.[ncbi.nlm.nih.gov]
  • RATIONALE: There is lack of data about the present spectrum of congenital cyanotic heart disease in the paediatric age group.[ncbi.nlm.nih.gov]
  • Recent evidence suggests that deranged endothelial function, a sequel of chronic cyanosis, could be an important factor in the pathogenesis of cyanosis-associated cardiovascular risk.[ncbi.nlm.nih.gov]
  • OBJECTIVE: Patients with complex cyanotic congenital heart disease and a bidirectional cavopulmonary connection who are not candidates for or had failed Fontan operation may experience progressive cyanosis.[ncbi.nlm.nih.gov]
  • Tet spells consist of inconsolable crying with increasing cyanosis and hyperpnoea and may lead to the loss of consciousness and even death.[symptoma.com]
  • Both groups show cyanosis, diminished exercise performance and impaired quality of life. This study aimed to compare the functional outcome of those two cohorts directly.[ncbi.nlm.nih.gov]
  • Important flags on history include: Cyanosis Timing and location (peripheral or central) of cyanosis, clubbing Refractory cyanosis if fails to improve with oxygen therapy Fainting or cyanotic spells Cyanosis occurring with exertion, emotions, and/or bearing[learn.pediatrics.ubc.ca]
Heart Murmur
  • Auscultation findings may include tachycardic or bradycardic sounds;heart murmurs- their location, intensity, musical qualities and lack of variability with respiratory movements may suggest the underlying defect; paradoxically or fixed split, single[symptoma.com]
  • 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]
  • Abnormal heart sounds, a heart murmur, and lung crackles may be heard.[nlm.nih.gov]
  • For older children history of a heart murmur, respiratory distress and exercise intolerance is helpful.[learn.pediatrics.ubc.ca]
  • murmur Tachycardia Tachypnea Respiratory distress Mild cyanosis (in right sided heart failure) Poor growth and development (from increased energy spent on breathing) Complications [ edit ] This condition can cause congestive heart failure. [1] Diagnosis[en.wikipedia.org]
Pericardial Friction Rub
  • Pericardial friction rubs suggest pericarditis, while murmurs may be absent in the presence of severe ventricular dysfunction or pulmonary hypertension.Liver enlargement should also be evaluated, keeping in mind that the inferior edge is normally felt[symptoma.com]
Blurred Vision
  • Headaches and blurred vision in patients with cyanotic congenital heart disease and secondary erythrocytosis may be attributed to hyperviscosity and traditionally were treated with phlebotomy.[ncbi.nlm.nih.gov]
  • RESULTS: Twenty (69%) of the cyanotic patients had migraine, the majority 17 (59%) having migraine with aura. Twenty-two (58%) of the 38 acyanotic patients had migraine, of whom 16 (42%) had migraine with aura.[ncbi.nlm.nih.gov]
  • The investigators previously reported an association between dominant inheritance of clinically significant atrial shunts (large persistent foramina ovale and small atrial septal defects) and migraine with aura in some families.[ncbi.nlm.nih.gov]
  • He was found to have bilateral papilledema and increased intracranial pressure. Reduction of intracranial pressure with acetazolamide therapy led to alleviation of headache and visual changes.[ncbi.nlm.nih.gov]
  • Parents should be alarmed by unsatisfactory ponderal gain, cyanosis (permanent or due to the effort of feeding), profuse perspiration, apathy, fast or difficult breathing, persistent wheezing or coughing in the supine position.[symptoma.com]


The clinician should take a short history about the presence of CHD or sudden death in other family members. Inspection and palpation may reveal a hyperactive precordium, dextrocardia, heart enlargement or thrill. The heart impulse might be displaced (if the right ventricle is overloaded) or prominent (when the left ventricle has a pressure or volume overload). Auscultation findings may include tachycardic or bradycardic sounds;
heart murmurs- their location, intensity, musical qualities and lack of variability with respiratory movements may suggest the underlying defect; paradoxically or fixed split, single or inaudible sounds: S2 may be single in conditions associated with pulmonary hypertension or great vessels valve abnormalities: aortic or pulmonary atresia or severe stenosis or truncus arteriosus; abnormal supplementary heart sounds: early systolic (aortic or pulmonary stenosis) or mid systolic clicks (mitral valve prolapse, Ebstein’s anomaly), atrial or ventricular gallop may also occur. Pericardial friction rubs suggest pericarditis, while murmurs may be absent in the presence of severe ventricular dysfunction or pulmonary hypertension [4] [5] [6].
Liver enlargement should also be evaluated, keeping in mind that the inferior edge is normally felt 1-3 cm below the rib cage in newborns. The symmetry and amplitude of pulses should be routinely observed, in order not to miss associated abnormalities such as coarctation of the aorta or interrupted aortic arch.

Numerous professional cardiology associations recommend routine pulse oximetry newborn screening. The sensor should be placed on the right hand (to measure preductal saturation) or the foot (to measure postductal saturation) [7] [8] [9] [10] [11] [12].

An electrocardiogram may be normal or may show arrhythmia or congenital heart block, bundle branch blocks or cavity enlargement.

Thoracic radiography should be used to evaluate the location of the heart, vascular pulmonary markings, and cardiac silhouette: "boot" shape in tetralogy of Fallot, "egg-on-string" in transposition of great arteries, or "snowman" in total anomalous pulmonary venous return.

Echocardiography is performed in patients with signs of cardiogenic shock or abnormal findings on the ECG or thoracic radiography. Echocardiography is able to accurately measure cavities and walls, pressure gradients and velocities, and describe defects or exclude CHD as the cause of cyanosis.

If doubt arises from echocardiographic studies or if symptoms do not match echocardiographic data, cardiac computer tomography and magnetic resonance might be useful. However, these are not available in all centers, especially in underdeveloped countries. In this situation and in cases where it is necessary to measure pulmonary vascular resistance to determine if surgery is appropriate, cardiac catheterization is indicated. However, given that this method involves radiation exposure, it should only be used in cases where cardiac anatomy or function is not properly defined by less invasive methods, such as low flow lesions that make pulmonary resistance calculation difficult [13].

  • The abdominal roentgenograms showed dilated bowel loops, pneumatosis intestinalis, and pneumoperitoneum. Necrotizing enterocolitis (NEC) was diagnosed. After medical and surgical intervention, one infant survived.[ncbi.nlm.nih.gov]
  • Potential risk factors in these children included congestive heart failure, postoperative thrombocytosis, and cardiac arrhythmias. These cases suggest that children who undergo Fontan surgery may be at increased risk for cerebral infarction.[ncbi.nlm.nih.gov]
Hemoglobin Decreased
  • The hemoglobin decreased from 21 to 16 g/dL following the operation. The antepartum course was complicated by intrauterine growth retardation and pregnancy-induced hypertension.[ncbi.nlm.nih.gov]


  • OBJECTIVE: This study was planned to determine the effects of iron treatment in children with cyanotic congenital heart disease.[ncbi.nlm.nih.gov]
  • There were no adverse effects necessitating termination of treatment.[ncbi.nlm.nih.gov]
  • The best treatment available is surgical correction.[ncbi.nlm.nih.gov]
  • The results indicate that dental treatment of children with cyanotic heart disease using a standardized protocol in decentralized offices without the support of a surgical center is safe.[ncbi.nlm.nih.gov]
  • The treatment is volume replacement and low-dose iron therapy, not phlebotomy.[ncbi.nlm.nih.gov]


  • The prognosis for ''unrepaired'' pulmonary atresia with ventricular septal defect is approximately 8% in the 1st decade of age.[ncbi.nlm.nih.gov]
  • Early intervention in patients with CCHD is desirable in order to prevent development of complications which worsen the prognosis.[ncbi.nlm.nih.gov]
  • When major associated defects are present, such as atrioventricular canal defect, diminutive pulmonary arteries or collateral vessels, or left heart lesions, the prognosis changes from excellent to merely good.[ncbi.nlm.nih.gov]
  • Factors other than the above four categories influence the prognosis of cyanotic CHD. For example, the prognosis of Ebstein’s anomaly is not solely determined by the degree of cyanosis but more by the degree of tricuspid regurgitation and CHF.[ommegaonline.org]


  • There appears to be an etiologic connection between HOA and CCHD.[ncbi.nlm.nih.gov]
  • The aim of this study was to examine the prevalence of SCH in cyanotic congenital heart disease patients, consider possible etiologies, and evaluate thyroid function over time.[ncbi.nlm.nih.gov]
  • Underlying Mechanisms of Cyanosis in CHD After extra-cardiac etiologies of cyanosis (1,2,3 and 5 in Table 1) are ruled out, possible etiology of cyanotic CHD should be investigated [10].[ommegaonline.org]
  • Causes: Most Common Etiologies Cyanotic Congenital Heart Disease (5 T's, with 1-5 mnemonic) Truncus Arteriosus (1 vessel) Transposition of the Great Vessels (2 vessels switched) Tricuspid valve atresia (3 valve cusps) Tetralogy of Fallot (4 components[fpnotebook.com]
  • When faced with a blue baby in the ED, there are 4 etiologies to always consider.[emergencymedicinecases.com]


  • OBJECTIVE: To compare the risk of respiratory syncytial virus (RSV)-associated hospitalization and analyze the epidemiology of RSV infection in patients with cyanotic and acyanotic congenital heart disease (CHD), we analyzed the nationwide health insurance[ncbi.nlm.nih.gov]
  • The epidemiology and genetics of congenital heart disease. (2001) Clin Perinatol 28(1): 1-10.[ommegaonline.org]
  • Epidemiology The reported total birth prevalence of congenital heart disease in Europe is 8.2 per thousand live births which is higher than reported birth prevalence in the USA (6.9 per thousand live births).[patient.info]
  • There are more than 1.8 million adults living with congenital heart defects. [40] Epidemiology [ edit ] Congenital heart anomalies deaths per million persons in 2012 0-8 9-12 13-23 24-31 32-39 40-47 48-50 51-56 57-63 64-124 Heart defects are among the[en.wikipedia.org]
Sex distribution
Age distribution


  • In this article, we discuss the physiological and mechanical consequences of compensatory erythrocytosis and possible pathophysiological mechanisms of vascular dysfunction in chronic cyanosis.[ncbi.nlm.nih.gov]
  • The complex pathophysiology of such heart disease, in addition to the circumstances of emergency operation, exacerbate the total anesthetic risk.[ncbi.nlm.nih.gov]
  • Anesthesiologists caring for children with CCHD and secondary erythrocytosis need to understand the pathophysiology of these alterations and be aware of available strategies that lessen the risk of bleeding and/or thrombosis.[ncbi.nlm.nih.gov]
  • Cyanotic CHD is associated with a unique pathophysiology caused by chronic hypoxia.[ncbi.nlm.nih.gov]
  • Reorganized to mirror your changing practice, each cardiovascular-problem-based section offers a chapter on pharmacologic treatment (with a minimum of pathophysiology)...a chapter on catheter-based or minimally invasive interventions...and a discussion[books.google.com]


  • Early intervention in patients with CCHD is desirable in order to prevent development of complications which worsen the prognosis.[ncbi.nlm.nih.gov]
  • Keeps you current with brand-new chapters on gene therapy and stem cell therapy * unstable and chronic stable angina * management of unstable angina and non-ST-elevation myocardial infarction * devices for heart failure and arrhythmias * prevention of[books.google.com]
  • Prophylactic: Propranolol /Inderall Prostaglandin E (to keep the ductus arteriosus patent) Prophylactic antibiotic to prevent endocarditis Surgery: Glenn Shunt, Hemi-Fontan Procedure, Fontan Procedure.[en.wikipedia.org]
  • Can congenital heart defects be prevented? Most congenital heart defects cannot be prevented. A woman can do some things to reduce the risk of congenital heart defects though.[americanpregnancy.org]
  • Elective surgery is the best treatment to prevent chronic arterial hypoxemia, systemic thromboembolism and pulmonary hypertension.[bmcresnotes.biomedcentral.com]



  1. Aisenberg RB, Rosenthal A, Nadas AS, Wolff PH. Developmental delay in infants with congenital heart disease. Correlation with hypoxemia and congestive heart failure. Pediatr Cardiol 1982; 3:133.
  2. Park MK. Pediatric cardiology for Practitioners.4th end. Mosey, St. Louis. 2004; 123
  3. Yap SH, Anania N, Alboliras ET, Lilien LD. Reversed differential cyanosis in the newborn: a clinical finding in the supracardiac total anomalous pulmonary venous connection. Pediatr Cardiol. 2009 Apr;30(3):359-62
  4. Rein AJ, Omokhodion SI, Nir A. Significance of a cardiac murmur as the sole clinical sign in the newborn. Clin Pediatr (Phila). 2000; 39:511.
  5. Hansen LK, Birkebaek NH, Oxhøj H. Initial evaluation of children with heart murmurs by the non-specialized paediatrician. Eur J Pediatr. 1995; 154:15.
  6. McCrindle BW, Shaffer KM, Kan JS, et al. Cardinal clinical signs in the differentiation of heart murmurs in children. Arch Pediatr Adolesc Med. 1996; 150:169.
  7. de-Wahl Granelli A, Wennergren M, Sandberg K, et al. Impact of pulse oximetry screening on the detection of duct dependent congenital heart disease: a Swedish prospective screening study in 39,821 newborns. BMJ. 2009; 338:a3037.
  8. Meberg A, Brügmann-Pieper S, Due R Jr, et al. First day of life pulse oximetry screening to detect congenital heart defects. J Pediatr. 2008; 152:761.
  9. Riede FT, Wörner C, Dähnert I, et al. Effectiveness of neonatal pulse oximetry screening for detection of critical congenital heart disease in daily clinical routine--results from a prospective multicenter study. Eur J Pediatr. 2010; 169:975.
  10. Ewer AK, Middleton LJ, Furmston AT, et al. Pulse oximetry screening for congenital heart defects in newborn infants (PulseOx): a test accuracy study. Lancet. 2011; 378:785.
  11. Thangaratinam S, Brown K, Zamora J, et al. Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis. Lancet. 2012; 379:2459.
  12. Ewer AK, Furmston AT, Middleton LJ, et al. Pulse oximetry as a screening test for congenital heart defects in newborn infants: a test accuracy study with evaluation of acceptability and cost-effectiveness. Health Technol Assess 2012; 16:v.
  13. Feltes T, Bacha E, Beekman R, et al. Indications for Cardiac Catheterization and Intervention in Pediatric Cardiac Disease. A Scientific Statement From the American Heart Association. Circulation. 2011;123:2607-2652

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Last updated: 2019-07-11 20:03