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Prenatal, natal, perinatal, postnatal, past, and family histories should be obtained.
Maternal infection: Rubella during the first trimester of pregnancy commonly results in PDA and PA stenosis (rubella syndrome, see Table 1.1 ). Other viral infections early in pregnancy may be teratogenic. Viral infections (including human immunodeficiency virus) in late pregnancy may cause myocarditis.
Disorders | Cv abnormalities: frequency and types | Major features | Etiology |
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22q11.2 deletion syndrome (overlaps with and includes DiGeorge syndrome and velocardiofacial syndrome) | Frequent (74%); TOF (20%), VSD (14%), interrupted aortic arch (13%), truncus arteriosus (6%), vascular ring (6%), ASD (4%), others (10%). | Wide ranges of abnormalities of multiple organ systems, with each person having different manifestations; characteristic facies (“elfin facies,” ptosis, hypertelorism, auricular abnormalities), cleft lip and other palatal abnormalities (69%), feeding problems, learning difficulties (90%), congenital heart defects (74%), hypocalcemia (50%), renal anomalies (31%), autoimmune disorders (77%), hearing loss, laryngoesophageal anomalies, growth hormone deficiency, seizures, autism (20%), psychiatric disorders (25% of adults), behavioral problems, and others | Most cases new mutations; otherwise AD; Microdeletion of 22q11.2 |
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 30%-50%; rest: new mutations; Mostly mutations in 20p12.2 (±) |
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 | Most cases new mutations; 8q12.2 |
Carpenter syndrome | Frequent (50%); PDA, VSD, PS, TGA | Brachycephaly with variable craniosynostosis, mild facial hypoplasia, polydactyly, and severe syndactyly (“mitten hands”) | AR; 6p12.1-p11.2 19q13.2 |
Cockayne syndrome | Accelerated atherosclerosis | Senile-like changes beginning in infancy, dwarfing, microcephaly, prominent nose and sunken eyes, visual loss (retinal degeneration) and hearing loss | AR; 10q11.23 5q12.1 |
Cornelia de Lange (de Lange’s) syndrome | Occasional (30%); VSD | Synophrys and hirsutism, prenatal growth retardation, microcephaly, anteverted nares, downturned mouth, mental retardation | AD; Mutation in 5p13.2 (>50%) |
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 disease (craniofacial dysostosis) | Occasional; PDA, COA | Ptosis with shallow orbits, premature craniosynostosis, maxillary hypoplasia | AD; Mutation in 10q26.13 |
DiGeorge syndrome (part of 22q11.2 deletion syndrome) | Frequent; interrupted aortic arch, truncus arteriosus, VSD, PDA, TOF | Acronymically known as CATCH 22 syndrome: C ardiac defects, A bnormal facies (hypertelorism, short philtrum, cleft palate, downslanting eye), T hymic hypoplasia, C left palate, and H ypocalcaemia resulting from 22q11 deletions | AD; 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 (vascular Ehlers-Danlos syndrome [type 4]) | 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; Mutation in 2q32.2 |
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; Mutation in 4p16.2 |
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 ataxia | Frequent; hypertrophic cardiomyopathy progressing to heart failure | Late-onset ataxia, skeletal deformities | AR; Mutation in 9q21.11 |
Goldenhar syndrome (craniofacial macrosomia) | Frequent (35%); VSD, TOF | Facial asymmetry and hypoplasia, microtia, ear tag, cleft lip or palate, hypoplastic vertebrae | Usually sporadic |
Glycogen storage disease II (Pompe disease) | Very common; cardiomyopathy | Large tongue and flabby muscles, cardiomegaly; LVH and short PR interval on ECG, severe ventricular hypertrophy on echocardiogram; normal FBS and GTT | AR; Mutation in 17q25.3 |
Holt-Oram syndrome (cardio-limb syndrome) | Frequent; ASD, VSD | Defects or absence of thumb or radius | AD; Mutations in 12q24.21 |
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; Mostly mutation in 21q22.3 |
Infant of diabetic mother | 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 syndrome (primary ciliary dyskinesia) | Dextrocardia (12%) | Situs inversus, chronic sinusitis and otitis media, bronchiectasis, abnormal respiratory cilia, immotile sperm | AR; Different genes |
LEOPARD syndrome (Noonan syndrome with multiple lentigines) | Very common; PS, HOCM, long PR interval on ECG | L entiginous skin lesion, E CG abnormalities, o cular hypertelorism, p ulmonary stenosis, a bnormal genitalia, r etarded growth, d eafness | AD; 85% mutation in 12q24.13 |
Long QT syndrome: Jervell and Lange-Nielsen syndrome (1) Romano-Ward syndrome (2) | 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 (±) | Multiple mutations; AR (1) AD (2) |
Marfan syndrome | Frequent; aortic aneurysm, aortic and/or mitral regurgitation; MVP | Arachnodactyly with hyperextensibility, subluxation of lens; pectus deformity, myopia | AD; Mutation in 15q21.1 |
Mucopolysaccharidosis Hurler syndrome (type I) Hunter syndrome (type II) Morquio syndrome (type IV); types A & B | Frequent; aortic and/or mitral regurgitation, coronary artery disease | Coarse features, large tongue, depressed nasal bridge, kyphosis, retarded growth, hepatomegaly, corneal opacity (not in Hunter syndrome), mental retardation; most patients die by 10 to 20 years of age | AR (I) 4p16.3 XR (II) Xq28 AR (IV) 16q24.3 (A) 3p22.3 (B) |
Muscular dystrophy (Duchenne type) | Frequent; cardiomyopathy, PVC | Waddling gait, “pseudohypertrophy” of calf muscle | XR; Xp21.2-p21.1 |
Neurofibromatosis (von Recklinghausen disease; NF type 1) | Occasional; PS, COA, pheochromocytoma | Café-au-lait spots, multiple neurofibroma, acoustic neuroma (type 2), variety of bone lesions | AD; 30%-50% new mutations 17q11.2 |
Noonan syndrome (Turner-like syndrome) | Frequent; PS (dystrophic pulmonary valve), LVH (or anterior septal hypertrophy) | Similar to Turner syndrome but may occur both in males and females, without chromosomal abnormality | Usually sporadic; AD; 12q24.13 (~50%) |
Pierre Robin sequence | Occasional; VSD, PDA; less commonly ASD, COA, TOF | Micrognathia, glossoptosis, cleft soft palate, | Usually sporadic |
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 | AD; Mutations in 1q22 |
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 2nd and 3rd toes; short stature; mental retardation | AR; Mutations in 11q13.4 |
Thrombocytopenia-absent radius (TAR) syndrome | Occasional (30%); TOF, ASD, dextrocardia | Thrombocytopenia, absent or hypoplastic radius, normal thumb; “leukemoid” granulocytosis and eosinophilia | AR; Deletion of 1q21.1 |
Treacher Collins syndrome | Occasional; VSD, PDA, ASD | Underdeveloped lower jaw and zygomatic bone; defects of lower eyelids with downslanting palpebral fissure; malformation of auricle or ear canal defect; cleft palate | AD; 60% new mutation |
Trisomy 13 syndrome (Patau 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 (Edwards 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; cystlike lesions in phalanges and elsewhere; fibrous-angiomatosus lesions (83%) with varying colors in nasolabial fold, cheeks, and elsewhere. | AD; {2/3} of new mutations |
Turner 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 (Sprintzen syndrome) (part of 22q11.2 deletion syndrome) | Very common (85%); truncus arteriosus, TOF, pulmonary atresia with VSD, interrupted aortic arch (type B), VSD, and 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), hypernasal speech, conductive hearing loss, hypotonia, developmental delay and learning disability | AD; Micro-deletion of 22q11.2 |
Williams syndrome | Frequent; supravalvular AS, PA stenosis, renal artery 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 |
Zellweger syndrome (cerebrohepatorenal syndrome) | Frequent; PDA, VSD or ASD | Hypotonia, high forehead with flat facies, hepatomegaly, albuminemia | AR; Multiple genes |
Maternal medications: The following is a partial list of suspected teratogenic drugs that cause CHDs.
Amphetamines (VSD, PDA, ASD, and TGA), phenytoin (PS, AS, COA, and PDA), trimethadione (fetal trimethadione syndrome: TGA, VSD, TOF, HLHS, see Table 1.1 ), lithium (Ebstein’s anomaly), retinoic acid (conotruncal anomalies), valproic acid (various noncyanotic defects), and progesterone or estrogen (VSD, TOF, and TGA) are highly suspected teratogens.
Warfarin may cause fetal warfarin syndrome (TOF, VSD, and other features, such as ear abnormalities, cleft lip or palate, and hypoplastic vertebrae) (see Table 1.1 ).
Excessive maternal alcohol intake may cause fetal alcohol syndrome (in which VSD, PDA, ASD, and TOF are common) (see Table 1.1 ).
Cigarette smoking causes intrauterine growth retardation but not CHD.
Maternal conditions:
Maternal diabetes increases the incidence of cardiomyopathy in infants and CHD (TGA, VSD, PDA, ECD, COA, and HLHS) and cardiomyopathy (see Table 1.1 ).
Maternal lupus erythematosus and mixed connective tissue diseases have been associated with congenital heart block in the offspring.
History of maternal CHD may increase the prevalence of CHD in the offspring to as much as 15%, compared with 1% in the general population (see Appendix, Table A.2 ).
Birth weight:
Small for gestational age may indicate intrauterine infection or use of chemicals or drugs by the mother.
High birth weight is often seen in infants of diabetic mothers.
Poor weight gain and delayed development may be caused by CHF, severe cyanosis, or general dysmorphic conditions. Weight is more affected than height.
Cyanosis, squatting, and cyanotic spells suggest TOF or other cyanotic CHD.
Tachycardia, tachypnea, and puffy eyelids are signs of CHF.
Frequent lower respiratory tract infections may be associated with large L-R shunt lesions.
Decreased exercise tolerance may be a sign of significant heart defects or ventricular dysfunction.
Heart murmur. The time of its first appearance is important. A heart murmur noted shortly after birth indicates a stenotic lesion (AS, PS). A heart murmur associated with large L-R shunt lesions (such as VSD or PDA) may be delayed. Appearance of a heart murmur in association with fever suggests an innocent heart murmur.
Chest pain. Ask if chest pain is exercise-related or nonexertional. Also ask about its duration, nature, and radiation. Nonexertional chest pain is unlikely to have cardiac causes (except for pericarditis). Cardiac causes of chest pain are usually exertional and are very rare in children and adolescents. The three most common causes of noncardiac causes of chest pain in children are costochondritis, trauma to chest wall or muscle strain, and respiratory diseases (see Chest Pain in Chapter 20 ).
Palpitation may be caused by paroxysms of tachycardia, sinus tachycardia, single premature beats; rarely hyperthyroidism or MVP (see Chapter 22 ).
Joint pain. Joints that are involved, presence of redness and swelling, history of trauma, duration of the pain, and migratory or stationary nature of the pain are important. History of recent sore throat and rashes and family history of rheumatic fever are frequent in acute rheumatic fever. History of rheumatoid arthritis is also an important clue to the diagnosis.
Neurologic symptoms. Stroke may result from embolization of thrombus from infective endocarditis, polycythemia, or uncorrected or partially corrected cyanotic CHD. Headache may be associated with polycythemia or rarely with hypertension. Choreic movement may result from rheumatic fever. Fainting or syncope may be due to vasovagal responses, arrhythmias, long QT syndrome, epilepsy, or other noncardiac conditions (see Syncope in Chapter 21 ).
Medications, cardiac and noncardiac (name, dosage, timing, route of administration and duration).
Syndromes and diseases of other systems with associated cardiovascular abnormalities are summarized in Tables 1.1 and 1.2 , respectively.
Organ system and malformation | Frequency (%) | Specific cardiac defect |
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CENTRAL NERVOUS SYSTEM | ||
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THORACIC CAVITY | ||
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GASTROINTESTINAL SYSTEM | ||
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VENTRAL WALL | ||
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GENITOURINARY SYSTEM | ||
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