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 .
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 .
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 .
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]
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]
- 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]
- 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]
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]
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]
Signs & Symptoms Onset Cyanosis (mild) Cyanosis (mod to severe) Cyanosis (severe) Resp distress with Low CO Cyanosis (mild to mod) with CHF Immediately after birth Initiation of pulmonary circulation Truncus arteriosus DORV without PS DILV without PS [ommegaonline.org]
- Heart Murmur
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]
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]
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.  Diagnosis [en.wikipedia.org]
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   .
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)      .
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 .
- Hematocrit Increased
In addition, high hematocrit increases the risk of cerebro-vascular accidents. Polycythemia should be treated by erythropheresis instead of instead of phlebotomy. Some patients may develop iron deficiency and should receive oral iron therapy. [omicsonline.org]
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]
- Right Ventricular Hypertrophy
The four features that comprise tetralogy of Fallot--right ventricular hypertrophy, VSD, overriding aorta, and subpulmonary stenosis--are all secondary to a single morphogenetic defect: failure of expansion of the subpulmonary conus. [ncbi.nlm.nih.gov]
Ventricular Hypertrophy Hyperactive precordium Myocarditis Decreased pulses Right Ventricular Hypertrophy Decreased precordium VI. [fpnotebook.com]
The electrocardiogram shows the non-specific right ventricular hypertrophy. Chest x-ray shows decreased pulmonary vascular markings (reduced pulmonary perfusion) and right ventricular hypertrophy with a leftward apex. [hawaii.edu]
The four findings in this condition are right ventricular hypertrophy, VSD, overriding aorta, and pulmonic stenosis. This cine shows all of these except the pulmonic stenosis since the pulmonary artery is out of the imaging plane. [med-ed.virginia.edu]
- 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.
- Park MK. Pediatric cardiology for Practitioners.4th end. Mosey, St. Louis. 2004; 123
- 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
- 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.
- Hansen LK, Birkebaek NH, Oxhøj H. Initial evaluation of children with heart murmurs by the non-specialized paediatrician. Eur J Pediatr. 1995; 154:15.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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