As with the examination of any child, the order and extent of the physical examination of infants and children with potential cardiac problems should be individualized. The more innocuous procedures, such as inspection, should be done first, and the more frightening or uncomfortable parts should be delayed until later in the examination.
Supine is the preferred position for examining patients in any age group. However, if older infants and young children between 1 and 3 years of age refuse to lie down, they can be examined initially while sitting on their mothers’ laps.
Growth impairment is frequently observed in infants with congenital heart diseases (CHDs). The growth chart should reflect height and weight in terms of absolute values and also in percentiles. Accurate plotting and following of the growth curve are essential parts of the initial and follow-up evaluations of a child with significant heart problems. In overweight children, acanthosis nigricans should be checked in the neck and abdomen.
Different patterns of growth impairment are seen in different types of CHD.
Cyanotic patients have disturbances in both height and weight.
Acyanotic patients, particularly those with large left-to-right shunts, tend to have more problems with weight gain than with linear growth. The degree of growth impairment is proportional to the size of the shunt.
Acyanotic patients with pressure overload lesions without intracardiac shunt grow normally.
Poor growth in a child with mild cardiac anomaly or failure of catch-up weight gain after repair of the defect may be due to failure to recognize certain syndromes, inadequate calorie intake, or the underlying genetic predisposition.
Much information can be gained by simple inspection without disturbing a sleeping infant or frightening a child with a stethoscope. Inspection should include the following: general appearance and nutritional state; any obvious syndrome or chromosomal abnormalities; color (i.e., cyanosis, pallor, jaundice); clubbing; respiratory rate, dyspnea, and retraction; sweat on the forehead; and chest inspection.
General Appearance and Nutritional State
The physician should note whether the child is in distress, well nourished or undernourished, and happy or cranky. Obesity should also be noted; besides being associated with other cardiovascular risk factors such as dyslipidemia, hypertension, and hyperinsulinemia, obesity is also an independent risk factor for coronary artery disease.
Obvious chromosomal abnormalities known to be associated with certain congenital heart defects should be noted by the physician. For example, about 40% to 50% of children with Down syndrome have a congenital heart defect; the two most common defects are endocardial cushion defect (ECD) and ventricular septal defect (VSD). A newborn with trisomy 18 syndrome usually has a congenital heart defect. Table 2-1 shows cardiac defects associated with selected chromosomal abnormalities along with other hereditary and nonhereditary syndromes.
|Disorders||CV Abnormalities: Frequency and Types||Major Features||Etiology|
|Alagille syndrome (arteriohepatic dysplasia)||Frequent (85%), peripheral PA stenosis with or without complex CV abnormalities||Peculiar facies (95%) consisting of deep-set eyes; broad forehead; long, straight nose with flattened tip; prominent chin; and small, low-set, malformed ears |
Paucity of intrahepatic interlobular bile duct with chronic cholestasis (91%), hypercholesterolemia, butterfly-like vertebral arch defects (87%)
Growth retardation (50%) and mild mental retardation (16%)
|AD Chromosome 22q11.2|
|CHARGE association||Common (65%); TOF, truncus arteriosus, aortic arch anomalies (e.g., vascular ring, interrupted aortic arch)||C oloboma, h eart defects, choanal a tresia, growth or mental r etardation, g enitourinary anomalies, e ar anomalies, genital hypoplasia||8q12 deletion|
|Carpenter’s syndrome||Frequent (50%); PDA, VSD, PS, TGA||Brachycephaly with variable craniosynostosis, mild facial hypoplasia, polydactyly and severe syndactyly (“mitten hands”)||AR|
|Cockayne’s syndrome||Accelerated atherosclerosis||Senile-like changes beginning in infancy, dwarfing, microcephaly, prominent nose and sunken eyes, visual loss (retinal degeneration) and hearing loss||AR|
|Cornelia de Lange’s (de Lange’s) syndrome||Occasional (30%); VSD||Synophrys and hirsutism, prenatal growth retardation, microcephaly, anteverted nares, downturned mouth, mental retardation||Unknown; AD?|
|Cri du chat syndrome (deletion 5p syndrome)||Occasional (25%); variable CHD (VSD, PDA, ASD)||Cat-like cry in infancy, microcephaly, downward slant of palpebral fissures||Partial deletion, short arm of chromosome 5|
|Crouzon’s disease (craniofacial dysostosis)||Occasional; PDA, COA||Ptosis with shallow orbits, premature craniosynostosis, maxillary hypoplasia||AD|
|DiGeorge syndrome (overlap with velocardiofacial syndrome)||Frequent; interrupted aortic arch, truncus arteriosus, VSD, PDA, TOF||Hypertelorism, short philtrum, downslanting eyes, hypoplasia or absence of thymus and parathyroid, hypocalcemia, deficient cell-mediated immunity||Microdeletion of 22q11.2|
|Down syndrome (trisomy 21)||Frequent (40%–50%); ECD, VSD||Hypotonic, flat facies, slanted palpebral fissure, small eyes, mental deficiency, simian crease||Trisomy 21|
|Ehlers-Danlos syndrome||Frequent; ASD, aneurysm of aorta and carotids, intracranial aneurysm, MVP||Hyperextensive joints, hyperelasticity, fragility and bruisability of skin, poor wound healing with thin scar||AD|
|Ellis-van Creveld syndrome (chondroectodermal dysplasia)||Frequent (50%); ASD, single atrium||Short stature of prenatal onset, short distal extremities, narrow thorax with short ribs, polydactyly, nail hypoplasia, neonatal teeth||AR|
|Fetal alcohol syndrome||Occasional (25%–30%); VSD, PDA, ASD, TOF||Prenatal growth retardation, microcephaly, short palpebral fissure, mental deficiency, irritable infant or hyperactive child||Ethanol or its by-products|
|Fetal trimethadione syndrome||Occasional (15%–30%); TGA, VSD, TOF||Ear malformation, hypoplastic midface, unusual eyebrow configuration, mental deficiency, speech disorder||Exposure to trimethadione|
|Fetal warfarin syndrome||Occasional (15%–45%); TOF, VSD||Facial asymmetry and hypoplasia, hypoplasia, or aplasia of the pinna with blind or absent external ear canal (microtia); ear tags; cleft lip or palate; epitubular dermoid; hypoplastic vertebrae||Exposure to warfarin|
|Friedreich’s ataxia||Frequent; hypertrophic cardiomyopathy progressing to heart failure||Late-onset ataxia, skeletal deformities||AR|
|Goldenhar syndrome (occulo-auriculo-vertebral spectrum)||Frequent (35%); VSD, TOF||Facial asymmetry and hypoplasia, microtia, ear tag, cleft lip or palate, hypoplastic vertebrae||Unknown; usually sporadic|
|Glycogen storage disease II (Pompe’s disease)||Very common; cardiomyopathy||Large tongue and flabby muscles, cardiomegaly; LVH and short PR on ECG, severe ventricular hypertrophy on echocardiography; normal FBS and GTT||AR|
|Holt-Oram syndrome (cardio-limb syndrome)||Frequent; ASD, VSD||Defects or absence of thumb or radius||AD|
|Homocystinuria||Frequent; medial degeneration of aorta and carotids, atrial or venous thrombosis||Subluxation of lens (usually by 10 yr), malar flush, osteoporosis, arachnodactyly, pectus excavatum or carinatum, mental defect||AR|
|Infant of mother with diabetes||CHDs (3%–5%); TGA, VSD, COA; cardiomyopathy (10%–20%); PPHN||Macrosomia, hypoglycemia and hypocalcemia, polycythemia, hyperbilirubinemia, other congenital anomalies||Fetal exposure to high glucose levels|
|Kartagener’s syndrome||Dextrocardia||Situs inversus, chronic sinusitis and otitis media, bronchiectasis, abnormal respiratory cilia, immotile sperm||AR|
|LEOPARD syndrome (multiple lentigenes syndrome)||Very common; PS, HOCM, long PR interval||L entiginous skin lesion, E CG abnormalities, o cular hypertelorism, p ulmonary stenosis, a bnormal genitalia, r etarded growth, d eafness||AD|
|Long QT syndrome: |
Jervell and Lange-Nielsen syndrome
|Very common; long QT interval on ECG, ventricular tachyarrhythmia||Congenital deafness (not in Romano-Ward syndrome), syncope resulting from ventricular arrhythmias, family history of sudden death (±)||AR |
|Marfan’s syndrome||Frequent; aortic aneurysm, aortic or mitral regurgitation||Arachnodactyly with hyperextensibility, subluxation of lens||AD|
Hurler’s syndrome (type I)
Hunter’s syndrome (type II)
Morquio’s syndrome (type IV)
|Frequent; aortic or mitral regurgitation, coronary artery disease||Coarse features, large tongue, depressed nasal bridge, kyphosis, retarded growth, hepatomegaly, corneal opacity (not in Hunter’s syndrome), mental retardation; most patients die by 10 to 20 years of age||AR |
|Muscular dystrophy (Duchenne’s type)||Frequent; cardiomyopathy||Waddling gait, “pseudohypertrophy” of calf muscle||XR|
|Neurofibromatosis (von Recklinghausen’s disease)||Occasional; PS, COA, pheochromocytoma||Café au lait spots, multiple neurofibroma, acoustic neuroma, variety of bone lesions||AD|
|Noonan’s syndrome (Turner-like syndrome)||Frequent; PS (dystrophic pulmonary valve), LVH (or anterior septal hypertrophy)||Similar to Turner’s syndrome but may occur both in males and females, without chromosomal abnormality||Usually sporadic; apparent AD?|
|Pierre Robin syndrome||Occasional; VSD, PDA; less commonly ASD, COA, TOF||Micrognathia, glossoptosis, cleft soft palate||In utero mechanical constraint?|
|Osler-Rendu-Weber syndrome (hereditary hemorrhagic telangiectasia)||Occasional; pulmonary arteriovenous fistula||Hepatic involvement, telangiectases, hemangioma or fibrosis||AD|
|Osteogenesis imperfecta||Occasional; aortic dilatation, aortic regurgitation, MVP||Excessive bone fragility with deformities of skeleton, blue sclera, hyperlaxity of joints||AD or AR|
|Progeria (Hutchinson-Gilford syndrome)||Accelerated atherosclerosis||Alopecia, atrophy of subcutaneous fat, skeletal hypoplasia and dysplasia||Unknown; occasional AD or AR|
|Rubella syndrome||Frequent (>95%); PDA and PA stenosis||Triad of the syndrome: deafness, cataract, and CHDs; others include intrauterine growth retardation, microcephaly, microphthalmia, hepatitis, neonatal thrombocytopenic purpura||Maternal rubella infection during the first trimester|
|Rubinstein-Taybi syndrome||Occasional (25%); PDA, VSD, ASD||Broad thumbs or toes; hypoplastic maxilla with narrow palate; beaked nose; short stature; mental retardation||Sporadic; 16p13.3 deletion|
|Smith-Lemli-Opitz syndrome||Occasional; VSD, PDA, others||Broad nasal tip with anteverted nostrils; ptosis of eyelids; Syndactyly of second and third toes; short stature; mental retardation||AR|
|Thrombocytopenia-absent radius (TAR) syndrome||Occasional (30%); TOF, ASD, dextrocardia||Thrombocytopenia, absent or hypoplastic radius, normal thumb; “leukemoid” granulocytosis and eosinophilia||AR|
|Treacher Collins syndrome||Occasional; VSD, PDA, ASD||Defects of lower eyelids; malar hypoplasia with downslanting palpebral fissure; malformation of auricle or ear canal defect, cleft palate||Fresh mutation; AD|
|Trisomy 13 syndrome (Patau’s syndrome)||Very common (80%); VSD, PDA, dextrocardia||Low birth weight, central facial anomalies, polydactyly, chronic hemangiomas, low-set ears, visceral and genital anomalies||Trisomy 13|
|Trisomy 18 syndrome (Edward’s syndrome)||Very common (90%); VSD, PDA, PS||Low birth weight, microcephaly, micrognathia, rocker-bottom feet, closed fist with overlapping fingers||Trisomy 18|
|Tuberous sclerosis||Frequent; rhabdomyoma||Triad of adenoma sebaceum (2–5 yr of age), seizures, and mental defect; cyst-like lesions in phalanges and elsewhere; fibrous-angiomatosis lesions (83%) with varying colors in nasolabial fold, cheeks, and elsewhere||AD|
|Turner’s syndrome (XO syndrome)||Frequent (35%); COA, bicuspid aortic valve, AS; hypertension, aortic dissection later in life||Short female; broad chest with widely spaced nipples; congenital lymphedema with residual puffiness over the dorsum of fingers and toes (80%)||XO with 45 chromosomes|
|VATER association (VATER or VACTERL syndrome)||Common (>50%); VSD, other defects||V ertebral anomalies, a nal atresia, c ongenital heart defects, t racheo e sophageal (TE) fistula, r enal dysplasia, l imb anomalies (e.g., radial dysplasia)||Sporadic|
|Velocardiofacial syndrome (Splintzen syndrome)||Very common (85%); truncus arteriosus, TOF, pulmonary atresia with VSD, interrupted aortic arch type B), VSD, and D-TGA||Structural or functional palatal abnormalities, unique facial characteristics (“elfin facies” with auricular abnormalities, prominent nose with squared nasal root and narrow alar base, vertical maxillary excess with long face), hypernatal speech, conductive hearing loss, hypotonia, developmental delay and learning disability||Unknown; chromosome 22q11 (probably the same disease as DiGeorge syndrome)|
|Williams syndrome||Frequent; supravalvular AS, PA stenosis||Varying degree of mental retardation, so-called elfin facies (consisting of some of the following: upturned nose, flat nasal bridge, long philtrum, flat malar area, wide mouth, full lips, widely spaced teeth, periorbital fullness) hypercalcemia of infancy?||Sporadic; 7q23 deletion; AD?|
|Zellweger syndrome (Cerebro-hepato-renal syndrome)||Frequent; PDA, VSD or ASD||Hypotonia, high forehead with flat facies, hepatomegaly, albuminemia||AR|
Hereditary and Nonhereditary Syndromes and Other Systems Malformations
Congenital cardiovascular anomalies are associated with a number of hereditary or nonhereditary syndromes and malformations of other systems. For example, a child with a missing thumb or deformities of a forearm may have an atrial septal defect (ASD) or VSD (e.g., Holt-Oram syndrome [cardio-limb syndrome]). Newborns with CHARGE ( c oloboma, h eart defects, choanal a tresia, growth or mental r etardation, g enitourinary anomalies, e ar anomalies) association show a high prevalence of conotruncal abnormalities (e.g., tetralogy of Fallot [TOF], double-outlet right ventricle (RV), persistent truncus arteriosus). A list of cardiac anomalies in selected hereditary and nonhereditary syndromes is given in Table 2-1 . Certain congenital malformations of other organ systems are associated with an increased prevalence of congenital heart defects ( Table 2-2 ).
|Organ System and Malformation||Frequency (Range) (%)||Specific Cardiac Defects|
|Central Nervous System|
|Hydrocephalus||6 (4.5–14.9)||VSD, ECD, TOF|
|Dandy-Walker syndrome||3 (2.5–4.3)||VSD|
|Agenesis of corpus callosum||15||No specific defects|
|Meckel-Gruber syndrome||14||No specific defects|
|TE fistula or esophageal atresia||21 (15–39)||VSD, ASD, TOF|
|Diaphragmatic hernia||11 (9.6–22.9)||No specific defects|
|Duodenal atresia||17||No specific defects|
|Jejunal atresia||5||No specific defects|
|Anorectal anomalies||22||No specific defects|
|Imperforate anus||12||TOF, VSD|
|Omphalocele||21 (19–32)||No specific defects|
|Gastroschisis||3 (0–7.7)||No specific defects|
|Bilateral||43||No specific defects|
|Unilateral||17||No specific defects|
|Horseshoe kidney||39||No specific defects|
|Renal dysplasia||5||No specific defects|
The physician should note whether the child is cyanotic, pale, or jaundiced. In cases of cyanosis, the degree and distribution should be noted (e.g., throughout the body, only on the lower or upper half of the body). Mild cyanosis is difficult to detect. The arterial saturation is usually 85% or lower before cyanosis is detectable in patients with normal hemoglobin levels (see Chapter 11 ). Cyanosis is more noticeable in natural light than in artificial light. Cyanosis of the lips may be misleading, particularly in children who have deep pigmentation. The physician should also check the tongue, nail beds, and conjunctiva. When in doubt, the use of pulse oximetry is confirmatory. Children with cyanosis do not always have cyanotic congenital heart defects. Cyanosis may result from respiratory diseases or central nervous system disorders. Cyanosis that is associated with arterial desaturation is called central cyanosis. Cyanosis associated with normal arterial saturation is called peripheral cyanosis. Even mild cyanosis in a newborn requires thorough investigation (see Chapter 14 ).
Peripheral cyanosis may be noticeable in newborns who are exposed to cold and those with congestive heart failure (CHF) because, in both conditions, peripheral blood flow is sluggish, losing more oxygen to peripheral tissues. Cyanosis is also seen in polycythemic patients with normal O 2 saturation (see Chapter 11 for the relationship between cyanosis and hemoglobin levels). Circumoral cyanosis, cyanosis around the mouth, is found in normal children with fair skin. Isolated circumoral cyanosis is not significant. Acrocyanosis is a bluish or red discoloration of the fingers and toes of normal newborns in the presence of normal arterial oxygen saturation.
Pallor may be seen in infants with vasoconstriction from CHF or circulatory shock or in severely anemic infants. Newborns with severe CHF and those with congenital hypothyroidism may have prolonged physiologic jaundice. Patent ductus arteriosus (PDA) and pulmonary stenosis (PS) are common in newborns with congenital hypothyroidism. Hepatic disease with jaundice may cause arterial desaturation because of the development of pulmonary arteriovenous fistula (e.g., arteriohepatic dysplasia).
Long-standing arterial desaturation (usually longer than 6 months’ duration), even if too mild to be detected by an inexperienced person, results in clubbing of the fingernails and toenails. When fully developed, clubbing is characterized by a widening and thickening of the ends of the fingers and toes, as well as by convex fingernails and loss of the angle between the nail and nail bed ( Fig. 2-1 ). Reddening and shininess of the terminal phalanges are seen in the early stages of clubbing. Clubbing appears earliest and most noticeably in the thumb. Clubbing may also be associated with lung disease (e.g., abscess), cirrhosis of the liver, and subacute bacterial endocarditis. Occasionally, clubbing occurs in normal people, such as in familial clubbing.
Respiratory Rate, Dyspnea, and Retraction
The physician should note the respiratory rate of every infant and child. If the infant breathes irregularly, the physician should count for a whole minute. The respiratory rate is faster in children who are crying, upset, eating, or feverish. The most reliable respiratory rate is that taken during sleep. After finishing a bottle of formula, an infant may breathe faster than normal for 5 to 10 minutes. A resting respiratory rate more than 40 breaths/min is unusual, and that more than 60 breaths/min is abnormal at any age. Tachypnea, along with tachycardia, is the earliest sign of left-sided heart failure. If the child has dyspnea or retraction, this may be a sign of a more severe degree of left-sided heart failure or a significant lung pathology.
Sweat on the Forehead
Infants with CHF often have a cold sweat on their foreheads. This is an expression of heightened sympathetic activity as a compensatory mechanism for decreased cardiac output.
Acanthosis nigricans is a dark pigmentation of skin creases most commonly seen on the neck in the majority of obese children and those with type 2 diabetes. It is also found in the axillae, groins, and inner thighs and on the belt line of the abdomen. Rarely, acanthosis occurs in patients with Addison disease, Cushing syndrome, polycystic ovary syndrome (Stein-Leventhal syndrome), hypothyroidism, and hyperthyroidism. This condition is associated with insulin resistance and a higher risk of developing type 2 diabetes.
Inspection of the Chest
Precordial bulge, with or without actively visible cardiac activity, suggests chronic cardiac enlargement. Acute dilatation of the heart does not cause precordial bulge. Pigeon chest (pectus carinatum), in which the sternum protrudes on the midline, is usually not a result of cardiomegaly.
Pectus excavatum (undue depression of the sternum) rarely, if ever, causes significant cardiac embarrassment. Rather, it may be a cause of a pulmonary systolic murmur or a large cardiac silhouette on a posteroanterior view of a chest roentgenogram, which compensates for the diminished anteroposterior diameter of the chest. As a group, children with a significant pectus excavatum have a shorter endurance time than normal children.
Harrison’s groove, a line of depression in the bottom of the rib cage along the attachment of the diaphragm, indicates poor lung compliance of long duration, such as that seen in large left-to-right shunt lesions.
Palpation should include the peripheral pulses (their presence or absence, the pulse rate, the volume of the pulses) and the precordium (the presence of a thrill, the point of maximal impulse [PMI], precordial hyperactivity). Although ordinarily palpation follows inspection, auscultation may be more fruitful on a sleeping infant who might wake up and become uncooperative.
The physician should count the pulse rate and note any irregularities in the rate and volume. The normal pulse rate varies with the patient’s age and status. The younger the patient, the faster the pulse rate. Increased pulse rate may indicate excitement, fever, CHF, or arrhythmia. Bradycardia may mean heart block, effects of drugs, and so on. Irregularity of the pulse suggests arrhythmias, but sinus arrhythmia (an acceleration with inspiration) is normal.
The right and left arm and an arm and a leg should be compared for the volume of the pulse. Every patient should have palpable pedal pulses, of the dorsalis pedis, tibialis posterior, or both. It is often easier to feel pedal pulses than femoral pulses. Attempts at palpating a femoral pulse often wake up a sleeping infant or upset a toddler. If a good pedal pulse is felt, coarctation of the aorta (COA) is effectively ruled out, especially if the blood pressure (BP) in the arm is normal.
Weak leg pulses and strong arm pulses suggest COA. If the right brachial pulse is stronger than the left brachial pulse, the cause may be COA occurring near the origin of the left subclavian artery or supravalvular aortic stenosis (AS). A weaker right brachial pulse than the left suggests aberrant right subclavian artery arising distal to the coarctation.
Bounding pulses are found in aortic run-off lesions such as PDA, aortic regurgitation (AR), large systemic arteriovenous fistula, or persistent truncus arteriosus (rarely). Pulses are bounding in premature infants because of the lack of subcutaneous tissue and because many have PDA.
Weak, thready pulses are found in cardiac failure or circulatory shock or in the leg of a patient with COA. A systemic-to-pulmonary artery (PA) shunt (either classic Blalock-Taussig shunt or modified Gore-Tex shunt) or subclavian flap angioplasty for repair of COA may result in an absent or weak pulse in the arm affected by surgery. Arterial injuries resulting from previous cardiac catheterization may cause a weak pulse in the affected limb.
Pulsus paradoxus (paradoxical pulse) is suspected when there is marked variation in the volume of arterial pulses with the respiratory cycle. The term pulsus paradoxus does not indicate a phase reversal; rather, it is an exaggeration of normal reduction of systolic pressure during inspiration. When arterial BP is being monitored through an indwelling arterial catheter, the presence of pulsus paradoxus is easily detected by a wide swing (>10 mm Hg) in arterial pressure. In a child without arterial pressure monitoring, accurate evaluation requires sphygmomanometry ( Fig. 2-2 ). Pulsus paradoxus may be associated with cardiac tamponade secondary to pericardial effusion or constrictive pericarditis or to severe respiratory difficulties seen with asthma or pneumonia. It is also seen in patients who are on ventilators with high pressure settings, but in these cases, the BP increases with inflation.
The presence of pulsus paradoxus is confirmed by the use of a sphygmomanometer as described below.
The cuff pressure is raised about 20 mm Hg above the systolic pressure.
The pressure is lowered slowly until Korotkoff sound 1 is heard for some but not all cardiac cycles, and the reading is noted (line A on Fig. 2-2 ).
The pressure is lowered further until systolic sounds are heard for all cardiac cycles, and the reading is noted (line B on Fig. 2-2 ).
If the difference between readings A and B is greater than 10 mm Hg, pulsus paradoxus is present.
One should palpate the following on the chest: apical impulse, point of maximal impulse (PMI), hyperactivity of the precordium, and palpable thrill.
Palpation of the apical impulse is usually superior to percussion in the detection of cardiomegaly. Its location and diffuseness should be noted. Percussion in infants and children is inaccurate and adds little. The apical impulse is normally at the fifth intercostal space in the midclavicular line after age 7 years. Before this age, the apical impulse is in the fourth intercostal space just to the left of the midclavicular line. An apical impulse displaced laterally or downward suggests cardiac enlargement.
Point of Maximal Impulse
The PMI is helpful in determining whether the RV or left ventricle (LV) is dominant. With RV dominance, the impulse is maximal at the lower left sternal border or over the xiphoid process; with LV dominance, the impulse is maximal at the apex. Normal newborns and infants have RV dominance and therefore more RV impulse than older children. If the impulse is more diffuse and slow rising, it is called a heave. If it is well localized and sharp rising, it is called a tap. Heaves are often associated with volume overload. Taps are associated with pressure overload.
The presence of a hyperactive precordium characterizes heart disease with volume overload, such as that seen in defects with large left-to-right shunts (e.g., PDA, VSD) or heart disease with severe valvular regurgitation (e.g., AR, mitral regurgitation [MR]).
Thrills are vibratory sensations that represent palpable manifestations of loud, harsh murmurs. Palpation for thrills is often of diagnostic value. A thrill on the chest is felt better with the palm of the hand than with the tips of the fingers. However, the fingers are used to feel a thrill in the suprasternal notch and over the carotid arteries.
Thrills in the upper left sternal border originate from the pulmonary valve or PA and therefore are present in PS, PA stenosis, or PDA (rarely).
Thrills in the upper right sternal border are usually of aortic origin and are seen in AS.
Thrills in the lower left sternal border are characteristic of a VSD.
Thrills in the suprasternal notch suggest AS but may be found in PS, PDA, or COA.
The presence of a thrill over the carotid artery or arteries accompanied by a thrill in the suprasternal notch suggests diseases of the aorta or aortic valve (e.g., COA, AS). An isolated thrill in one of the carotid arteries without a thrill in the suprasternal notch may be a carotid bruit.
Thrills in the intercostal spaces are found in older children with severe COA and extensive intercostal collaterals.
Blood Pressure Measurement
Whenever possible, every child should have his or her BP measured as part of the physical examination. The status of the child at the time of BP measurement, such as moving, crying, or fighting, should be considered in the interpretation of obtained BP values before making any decision about the normalcy of the measurement. When BP is measured in a reasonably quiet situation, an average value of 2 or more BP values is compared with a set of normative BP standards to see if obtained BP values are normal or abnormal. Unfortunately, there have been problems regarding the proper method of measuring BP as well as the normative BP values for children.
Scientifically unsound methods of BP measurement recommended by two previous National Institutes of Health (NIH) Task Forces (1977 and 1987) have dominated the field, and they have been the source of confusion for nearly half a century. At this time, both the methodology and standards recommended by the NIH Task Forces have been abandoned. However, the most recent BP standards recommended by the Working Group of the National High Blood Pressure Education Program (NHBPEP) are still problematic for several reasons.
In this subsection, the following important issues in children’s BP measurement are discussed for a quick overview:
What is the currently recommended BP measurement method?
How good are normal BP standards recommended by the Working Group of the NHBPEP?
Which normal BP standards should be used and why?
How accurate are oscillometric BP measurements?
Are BP levels obtained by oscillometric devices interchangeable with those obtained by the auscultatory method?
How should arm and leg BP values be interpreted in children?
What are normative BP levels in neonates and small children?
How important is the concept of peripheral amplification of systolic pressure?
What is the currently recommended BP measuring method?
In the recent past, two Task Forces of the NIH, 1977 and 1987, recommended BP cuff selection based on the length of the arm, initially recommending the cuff width to be two thirds of the arm length and later changing it to three fourths of the length of the arm. These Task Forces have provided normal BP standards based on these unscientific methods. The BP cuff selection based on the length of the arm is scientifically unsound and violates the physical principles underlying indirect BP measurement, which have been established a century ago. For adults, the Special Task Force of the American Heart Association (AHA) has recommended the correct cuff selection method based on the thickness (or circumference) of the arm, and it has been in use since 1950. The correct width of the BP cuff is 40% to 50% of the circumference of the limb on which the BP is being measured ( Fig. 2-3 ). In 1988, the AHA’s Special Task Force extended the same cuff selection method to children as well, but the 1987 NIH Task Force did not. In 2004, the NHBPEP has accepted the correct BP cuff selection method of the AHA.
The following summarizes current views on BP measurement techniques recommended by the AHA as well as the NHBPEP:
The BP cuff width should be 40% to 50% of the circumference (equivalent to 125% to 155% of the diameter) of the extremity with the cuff long enough to completely or nearly completely encircle the extremities (endorsed by both groups).
The NHBPEP recommends Korotkoff phase 5 (K5) as the diastolic pressure, but this recommendation is debatable based on a number of earlier reports. Earlier studies indicate that K4 agrees better with direct intraarterial diastolic pressure for children 12 years of age and younger (endorsed by the AHA, NIH Task Forces, and the Bogalusa Heart Study [ Hammond et al, 1995 ]).
Both groups recommend averaging two or more readings (because the averaged values are closer to the basal BP level and are more reproducible).
Both the AHA and the NHBPEP recommend the sitting position with the arm at the heart level.
How good are BP standards recommended by the NHBPEP?
Normative BP standards recommended by the NHBPEP are not as good as it was made to believe for several reasons. Readers should be aware of a few major flaws in the NHBPEP’s normative values.
BP data presented in the NHBPEP standards are not obtained by using the same methodology as the program recommends, nor are they from a nationally representative population. They are obtained through an arm’s-length–based cuff selection method, which is currently abandoned because of its unscientific nature. These values are also from single measurement rather than the averages of multiple readings, as currently recommended. In other words, the original source of the elaborate BP standards of the NHBEP is one that has been abandoned by the program itself, yet the program’s recommended BP standards are from these abandoned studies.
Expressing children’s BP levels by age and height percentiles is statistically unsound and unjustified on highly variable office BP readings. Height has no statistically important role in children’s BP levels. Partial correlation analysis in the San Antonio Children’s Blood Pressure Study (SACBPS) shows that when auscultatory BP levels were adjusted for age and weight, the correlation coefficient of systolic BP with height was very small ( r = 0.068 for boys; r = 0.072 for girls), whereas when adjusted for age and height, the correlation of systolic pressure with weight remained high ( r = 0.343 for boys; r = 0.294 for girls). These findings indicate that the contribution of height to BP levels is negligible. The apparent correlation of height to BP levels may all be secondary to a close correlation that exists between height and weight ( r = 0.86). A similar conclusion was reached with oscillometric BP levels in the same study. Although weight is very important contributor to BP, weight cannot be used as a second variable because this would interfere with the detection of high BP in obese children. Thus, we found no rationale to use anything other than age and gender to express children’s normative BP standards.
Recommending additional computations requiring the use of scientifically unsound complex BP tables on such highly variable office BP readings is unreasonable and unproductive relative to what is to be gained by such efforts. Analyzing unscientifically obtained data by additional computations does not improve their value.
The NHBPEP does not point out that the auscultatory and oscillometric BP readings are not interchangeable. SACBPS, in which both auscultatory and oscillometric methods were used, found that oscillometric systolic pressures are significantly higher than auscultatory BP readings (see later discussion for further details). This finding is important in view of the popular use of oscillometric devices in BP measurements in pediatric practice.
As a national guideline, the NHBPEP does not emphasize the important contribution of the “white-coat phenomenon” in office BP readings. The white-coat phenomenon refers to the finding that BP readings obtained in a health care facility are often significantly higher than those obtained outside the facility. The white-coat phenomenon may be the most common cause of high BP readings, not true hypertension, in pediatric practice.
Which normal BP standards should be used and why?
Because the NIH Task Forces’ BP standards (of 1987) were obtained by using the unscientific, arm’s-length–based, cuff selection method, these BP standards are no longer acceptable.
The BP standards of the NHBPEP (2004) are riddled with major flaws as discussed earlier; they are not the best standards. Health care providers who choose to use these standards should be aware of the flaws. Although not acceptable as reliable pediatric BP standards, the NHBPEP’s normative values are presented in Appendix B for the sake of completeness ( Tables B-1 , Tables B-2 ).
Normative BP percentile values from SACBPS are recommended as a better alternative to BP standards than the NHBPEP’s standards until nationwide data using the currently recommended methods become available. These are the only available BP standards that have been obtained according to the currently recommended method. In the SACBPS, BP levels were obtained in more than 7000 schoolchildren of three ethnic groups (African American, Mexican American, and non-Hispanic white) enrolled in kindergarten through the 12th grade in the San Antonio, Texas, area. Both the auscultatory and oscillometric (model Dinamap 8100) methods were used in the study, and the data were the averages of three readings. No consistent ethnic difference was found among the three ethnic groups, but there were important gender differences. Auscultatory BP data were expressed according to age and gender ( Park, 2001 ). These BP standards are normally distributed from the mean value, and thus the effect of obesity is not a problem in using the standards ( Figs. 2-4 and 2-5 ). Percentile BP values for these figures are presented in Appendix B ( Table B-3 , Table B-3 ).