Scanning: Indications and Technique

CHAPTER 2


Scanning: Indications and Technique


Julia A. Drose


Prenatal diagnosis of congenital heart disease is important in optimizing obstetrical and neonatal care. Congenital heart disease has been reported to occur in approximately 8 per 1000 live births.1–8 These incidence rates, which are based on live-born infants, underestimate, perhaps considerably, the true incidence of congenital heart disease in the fetus.1,2,4,9 Early fetal loss and stillbirths are often the result of complex heart defects or of chromosomal defects that have an associated heart defect. For this reason, the total congenital heart disease incidence in the fetus has been reported to be as much as five times that found in live-born children.1,9–14 The pooled reported frequency of congenital heart lesions among affected abortuses and stillborn infants shows that ventricular septal defects occur most often (Table 2–1). Coarctation of the aorta and atrial septal defects were also frequently mentioned.15



In utero identification of congenital heart disease allows a variety of treatment options to be considered, including delivery at an appropriate facility, termination, and in some cases in utero therapy.5,16–18 Conversely, a normal fetal echocardiogram in the setting of an increased risk factor provides reassurance for both patient and physician.



Timing


The American Institute of Ultrasound in Medicine Technical Bulletin for Performance of the Fetal Cardiac Ultrasound Examination recommends that fetal echocardiographic examinations be performed between 18 and 22 weeks’ gestation.19 It is at this time that optimal image quality, and therefore diagnostic accuracy, is achieved. It should be borne in mind that, even at 18 weeks’ gestation, the fetal heart is a very small structure, and a thorough evaluation may be challenging (Fig. 2–1).


image
Figure 2–1 The small size of the heart in a 20-week fetus is shown in relationship to a quarter.

Fetal echocardiography performed earlier in pregnancy is feasible in some cases and may be reasonable in a population at risk for a heart defect.7 However, alterations in chamber size, myocardial thickening, and size of the great arteries may occur later in pregnancy.20–22 Therefore a normal appearance of the fetal heart at any time in pregnancy does not exclude congenital heart disease.23


Later in gestation, the echocardiographic examination may be compromised by increased attenuation from the fetal skull, ribs, spine, and limbs and a decrease in amniotic fluid as pregnancy progresses.20,21


Optimally, fetal echocardiography should be performed sufficiently late in gestation so as not to miss late developing lesions and early enough to provide a full cohort of options. This may vary depending on the indication or type of lesion being evaluated.



Equipment


Fetal echocardiography requires the use of high-resolution ultrasound equipment.24 Acceptable transducer frequencies range from 5 to 7 MHz, depending on gestational age, maternal body habitus, and the amount of amniotic fluid present. Adequate transducer penetration is also necessary. All equipment used for fetal echocardiography should have M-mode and pulsed Doppler imaging capabilities to provide physiological assessment and color Doppler imaging capabilities to assess spatial and directional information. All these modalities are vital for performing a complete and accurate examination. Additionally, ultrasound equipment with compound imaging capabilities, which allows for off-axis beam steering, can be an asset.


Compound imaging allows additional lines of information to be added to an image without affecting frame rate. This helps suppress many of the artifacts inherent in conventional imaging.



Indications


The most common indication for performing a fetal echocardiogram is a family history of congenital heart disease (Box 2–1). The risk of occurrence for a fetus varies depending on the type of lesion and the relationship of the fetus to the affected relative. The risk of congenital heart disease in a fetus with an affected sibling is approximately 2% to 4%.25–29 If two or more siblings are affected, this risk increases to about 10% (Table 2–2). When the mother of the fetus is the affected relative, the risk of a heart defect is also approximately 10% to 12%.28,30,31 If the affected relative is the father, the risk is lower (Table 2–3).25–27 If congenital heart disease does recur in families, it is not limited to the same type of defect.



BOX 2–1   Indications for Fetal Echocardiography in Order of Frequency of Referral




Modified from: Friedberg MK, Silverman NH: Changing indications for fetal echocardiography in a university center population. Prenat Diagn 2004; 24:781–786.




Exposure to known cardiac teratogens also increases fetal risk for a heart defect.5,32 The list of substances considered teratogenic is extensive (Table 2–4). The specific risk of occurrence varies with the length and types of exposure and with the specific substance involved. Referrals for fetal echocardiography due to teratogen exposure have decreased over the past decade.8 This most likely represents an increase in awareness of minimizing teratogen exposure in women of reproductive age.



TABLE 2–4


Substances Associated with Congenital Heart Disease




































































































Substance Associated Congenital Heart Disease
Alcohol Atrial septal defect, ventricular septal defect, interrupted aortic arch, coarctation, tetralogy of Fallot, pulmonary stenosis, double-outlet right ventricle, dextrocardia
Amantadine Single ventricle, pulmonary atresia
Amphetamine Ventricular septal defect, atrial septal defect, transposition of the great arteries
Azathioprine Pulmonary stenosis
Barbiturates Interrupted aortic arch, coarctation
Cannabis Ventricular septal defect
Carbamazepine Atrial septal defect
Chlordiazepoxide Congenital heart disease (unspecified)
Codeine Congenital heart disease (unspecified)
Cortisone Ventricular septal defect, coarctation
Cyclophosphamide Tetralogy of Fallot
Cytarabine Tetralogy of Fallot
Daunorubicin Tetralogy of Fallot
Dextroamphetamine Atrial septal defect
Diazepam Congenital heart disease (unspecified)
Dilantin (hydantoin) Atrial septal defect, ventricular septal defect, interrupted aortic arch, coarctation, pulmonary stenosis, aortic stenosis
Indomethacin Ductal constriction
Lithium Ebstein anomaly, tricuspid atresia, atrial septal defect, mitral atresia, dextrocardia
Methotrexate Dextrocardia
Oral contraceptives Congenital heart disease (unspecified)
Paramethadione Tetralogy of Fallot
Penicillamine Ventricular septal defect
Primidone Ventricular septal defect, interrupted aortic arch, coarctation
Progesterone Ventricular septal defect, tetralogy of Fallot, truncus arteriosus
Quinine Congenital heart disease (unspecified)
Retinoic acid (Accutane) Ventricular septal defect, interrupted aortic arch, coarctation, tetralogy of Fallot, truncus arteriosus, double-outlet right ventricle, pulmonary atresia
Thalidomide Ventricular septal defect, transposition of the great arteries, truncus arteriosus, tetralogy of Fallot, double-outlet right ventricle, pulmonary atresia, atrial septal defect
Trifluoperazine Transposition of the great arteries
Trimethadione Ventricular septal defect, transposition of the great arteries, tetralogy of Fallot, hypoplastic left heart syndrome, double-outlet right ventricle, pulmonary atresia, truncus arteriosus, atrial septal defect, aortic stenosis, pulmonary stenosis
Valproic acid Ventricular septal defect, coarctation, interrupted aortic arch, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, atrial septal defect, pulmonary stenosis
Warfarin (Coumadin) Congenital heart disease (unspecified)

Data from Sandor GGS, Smith DF, MacLeod PM: Cardiac malformations in the fetal alcohol syndrome. J Pediat 1981; 98:771–773; Nora JJ, Nora AH: Maternal transmission of congenital heart diseases: New recurrence risk figures and question of cytoplasmic inheritance and vulnerability to teratogens. Am J Cardiol 1987; 60:460–463; Stamm ER, Drose JA, Thickman D: The fetal heart. In: Rumack CM, Wilson SR, Charboneau JW (eds): Diagnostic Ultrasound, vol II. St. Louis, Mosby–Year Book, 1991, p 801; Jones KL: Smith’s Recognizable Patterns of Human Malformation, 3rd ed. Philadelphia, WB Saunders, 1988; Nora J, Fraser FC, Bear J, et al: Medical Genetics: Principles and Practice. Philadelphia, Lea & Febiger, 1994; Romero R, Pilu G, Jeanty P, et al: The heart. In: Romero R, Pilu G, Jeanty P, et al. (eds): Prenatal Diagnosis of Congenital Anomalies. Norwalk, CT, Appleton & Lange, 1988; Taybi H: Radiology of Syndromes and Metabolic Disorders. Chicago, Year Book Medical, 1983; Briggs GG, Freman RK, Yaffe SJ: Drugs in Pregnancy and Lactation. Baltimore, Williams & Wilkins, 1990, pp 1–686; Okuda H, Nagao T: Cardiovascular malformations induced by prenatal exposure to phenobarbital in rats. Congenital Anomalies 2006; 46:97–104; Samren EB, van Duijn CM, Lieve-Christiaens GCM, et al: Antiepileptic drug regimens and major congenital abnormalities in the offspring. Ann Neurol 1999; 46:739–746; Miller LC, Chan W, Litvinova A, et al: Fetal alcohol spectrum disorders in children residing in Russian orphanages: A phenotypic survey. Alcohol Clin Exp Res 2006; 30:531–538; Williams LJ, Correa A, Rasmussen S. Maternal lifestyle factors and risk for ventricular septal defects. Birth Defects Res 2004; 70:59–64.


Chromosomal abnormalities have been reported to occur in 13% of live-born infants with congenital heart defects.33–36 The incidence of an abnormal karyotype in the fetus with a congenital heart abnormality is approximately 35%.2,37 A study by Nicolaides et al38 in 1993 found chromosomal abnormalities in 101 of 156 (65%) fetuses they identified as having a heart defect.


Again, the specific type and occurrence risk of a congenital heart defect varies depending on the chromosomal abnormality. Some abnormal karyotypes have a relatively low association with heart defects, whereas others, such as trisomy 21, are associated with a 40% to 50% occurrence.36–39 The most striking relationship is apparent with trisomy 13 and trisomy 18, in which the association with congenital heart abnormalities is almost 100%.38 Recent literature has reported live-born infants with trisomy 13 and trisomy 18 to have congenital heart disease in 38% and 45%, respectively.40 The discrepancy in these data is probably due to the more recent data consisting only of live births, excluding spontaneous miscarriages or terminated pregnancies. As with teratogenic agents, the list of abnormal karyotypes and syndromes associated with heart defects is extensive (Table 2–5).



TABLE 2–5


Chromosome Abnormalities and Syndromes Associated with Congenital Heart Disease



























































































































































































































































































































































































































































































































































































































































































































































































































































































































































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Jan 11, 2016 | Posted by in FETAL MEDICINE | Comments Off on Scanning: Indications and Technique

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Syndrome Associated Congenital Heart Disease Risk (%)
Aase-Smith syndrome Ventricular septal defect
Achondroplasia Interrupted aortic arch, coarctation
Acrocephalosyndactyly, type I Interrupted aortic arch, coarctation
Acrocephalopolysyndactyly, type IV Congenital heart disease (unspecified)
Acromicric dysplasia Atrial septal defect
Acyl-CoA Cardiomegaly
Adams Oliver syndrome Congenital heart disease (unspecified)
Alacrima-aptyalism syndrome Dextrocardia
Alagille syndrome Atrial septal defect, ventricular septal defect, pulmonary stenosis
Antley-Bixler syndrome Atrial septal defect 33
Apert syndrome Ventricular septal defect, coarctation, tetralogy of Fallot 10
Arachnodactyly Congenital heart disease (unspecified)
Arthrochalasis multiplex congenita Atrial septal defect, interrupted aortic arch, coarctation, ventricular septal defect, tetralogy of Fallot, bicuspid aorta, bicuspid tricuspid valve, dextrocardia, coarctation
Arthrogryposis multiplex congenita Ventricular septal defect, coarctation, aortic stenosis
Asymmetric crying face Tetralogy of Fallot, ventricular septal defect
Bardet-Biedl syndrome (Laurence-Moon) Ventricular septal defect, total anomalous pulmonary venous connection
Beckwith-Wiedeman syndrome Atrial septal defect, ventricular septal defect, cardiomegaly
Beemer lethal malformation syndrome Tetralogy of Fallot, double-outlet right ventricle
Bernheim syndrome Cardiomegaly, hypoplastic left heart syndrome, aortic stenosis, interrupted aortic arch, coarctation
Berry-Treacher Collins syndrome Congenital heart disease (unspecified)
Bixler syndrome Congenital heart disease (unspecified)
Bourneville-Pringle syndrome Rhabdomyoma, interrupted aortic arch, coarctation
Bowen-Conradi-Hutterite syndrome Congenital heart disease (unspecified)
C syndrome Atrioventricular septal defect
Campomelic dysplasia Congenital heart disease (unspecified)
Cardiac-limb syndrome Atrial septal defect, ventricular septal defect 85
Cardiofacial syndrome–asymmetric facies Atrial septal defect, atrioventricular septal defect, interrupted aortic arch, coarctation, ventricular septal defect, pulmonary stenosis, tetralogy of Fallot
Cardiomelic syndrome Atrial septal defect, ventricular septal defect 85
Carpenter syndrome Ventricular septal defect, pulmonary stenosis, transposition of the great arteries 3
Cat-eye syndrome (partial trisomy 22) Total anomalous pulmonary venous connection, ventricular septal defect, atrial septal defect, tetralogy of Fallot, pulmonary stenosis 40
Cayler syndrome Atrial septal defect, atrioventricular septal defect, interrupted aortic arch, coarctation, ventricular septal defect, tetralogy of Fallot, right aortic arch, pulmonary stenosis, atrial stenosis
CHARGE (coloboma of the eye, heart anomaly, choanal atresia, retardation, and genital and ear anomalies) syndrome Atrioventricular septal defect, coarctation, ventricular septal defect, atrial septal defect, truncus arteriosus, double-outlet right ventricle, tetralogy of Fallot, right aortic arch 50
CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome Ventricular septal defect, atrial septal defect
CHIME (colobomas, heart defects, ichthyosiform dermatosis, mental retardation, and ear defects or epilepsy) syndrome Tetralogy of Fallot, transposition of the great arteries
Chondroectodermal dysplasia Atrial septal defect, single atrium 50
Coffin-Siris (Coffin-Laury) syndrome Congenital heart disease (unspecified)
Cohen syndrome Congenital heart disease (unspecified) 29
Congenital abducens–facial paralysis Dextrocardia
Congenital facial diplegia Dextrocardia
Congenital oculofacial paralysis Dextrocardia
Conradi-Hunermann syndrome (chondrodysplasia punctata) Ventricular septal defect
Crouzon syndrome Coarctation
Cryptophthalmos syndrome Atrial septal defect, truncus arteriosus, ventricular septal defect, transposition of the great arteries, right aortic arch
Cryptophthalmos–syndactyly syndrome Atrial septal defect, truncus arteriosus, transposition of the great arteries, ventricular septal defect, right aortic arch
DeLange syndrome Ventricular septal defect, tetralogy of Fallot, double-outlet right ventricle, interrupted aortic arch, coarctation 29
Dermal faciocardial skeletal syndrome Atrial septal defect, pulmonary stenosis
Diastrophic dysplasia Congenital heart disease (unspecified)
DiGeorge syndrome (22q) Ventricular septal defect, coarctation, truncus arteriosus, transposition of the great arteries, tetralogy of Fallot, interrupted aortic arch, double-outlet right ventricle 95
Distichiasis–lymphedema Truncus arteriosus 95
Duane syndrome Atrial septal defect
Dysencephalia syndrome Atrial septal defect
Dyssegmental dysplasia Congenital heart disease (unspecified)
Eagle-Barrett syndrome Atrial septal defect, ventricular septal defect, pulmonary stenosis
Ehlers-Danlos syndrome Interrupted aortic arch, coarctation, atrial septal defect, ventricular septal defect, dextrocardia, tetralogy of Fallot, bicuspid aortic valve, bicuspid tricuspid valve
Elfin facies syndrome Atrial septal defect, interrupted aortic arch, coarctation, aortic stenosis, mitral regurgitation, ventricular septal defect, tetralogy of Fallot 100
Ellis–van Creveld syndrome (chondrodysplasia punctata) Atrial septal defect, single atrium
Emery-Dreifuss syndrome Cardiomyopathy
Facioneuro syndrome Cardiomegaly
Factor V deficiency Atrial septal defect, ventricular septal defect
Ferrell-Okihiro-Halel syndrome (Ferrell-Okihiro-Halal syndrome) Atrial septal defect
Fanconi pancytopenia Atrial septal defect 14
Femoral-facial syndrome Truncus arteriosus, pulmonary stenosis
Franceschetti-Klein syndrome Ventricular septal defect, atrial septal defect
Franceschetti-Zwahler-Klein syndrome Ventricular septal defect, atrial septal defect
Fraser syndrome Atrial septal defect, ventricular septal defect, truncus arteriosus, transposition of the great arteries, right aortic arch
Friedreich ataxia Pulmonary stenosis, asymmetrical septal hypertrophy
Gardner-Silengo-Wachtel syndrome Congenital heart disease (unspecified)
Geleophysic dwarfism Atrial septal defect, hypertrophic cardiomyopathy, aortic insufficiency, pulmonary stenosis, mitral stenosis
Golabi-Ito-Hall (X-linked mental retardation) Atrial septal defect
Goldenhar syndrome Tetralogy of Fallot, atrial septal defect, ventricular septal defect, coarctation, interrupted aortic arch, right aortic arch
Goodman syndrome Congenital heart disease (unspecified)
Halarz syndrome Atrial septal defect, interrupted aortic arch, coarctation, dextroposition, ventricular septal defect, tetralogy of Fallot, absent right pulmonary artery
Hand-heart syndrome Atrial septal defect, ventricular septal defect 85
Heart-hand syndrome, type IV Ventricular septal defect, pulmonary stenosis, single atrium
Hirschsprung disease Interrupted aortic arch, coarctation, ventricular septal defect, mitral stenosis
Holt-Oram syndrome Atrial septal defect, ventricular septal defect 85
Hydrolethalus syndrome Truncus arteriosus, ventricular septal defect, atrioventricular septal defect, hypoplastic left heart syndrome, double aortic arch
Hypogonadotropic syndrome Atrial septal defect
Hypertelorism-hypospadias syndrome Congenital heart disease (unspecified) 25
Hypertelorism-microtia-facial clefting Congenital heart disease (unspecified)
Hypertrichosis osteochondrodysplasia Aortic stenosis
Ivemark syndrome Atrial isomerism, atrioventricular septal defect, complete heart block
Johanson-Blizzard syndrome Truncus arteriosus, atrial septal defect, transposition of the great arteries, single atrium, total anomalous pulmonary venous connection
Kabuki make-up syndrome Congenital heart disease (unspecified) 32
Kallman syndrome Atrial septal defect, Ebstein anomaly, right aortic arch
Kallman–deMorsier syndrome Atrial septal defect, Ebstein anomaly, right aortic arch
Kartagener syndrome Dextrocardia
Keutel syndrome Ventricular septal defect, pulmonary stenosis
Klippel-Feil syndrome Ventricular septal defect, transposition of the great arteries, total anomalous pulmonary venous connection
Klippel-Trenaunay-Weber syndrome Cardiomegaly
Kneist-like dysplasia Atrial septal defect
Larsen syndrome Congenital heart disease (unspecified)
Laurence-Moon syndrome (Bardet-Biedl) Ventricular septal defect, total anomalous pulmonary venous connection
Leopard syndrome Pulmonary stenosis, complete heart block, cardiomyopathy
Lethal facial-cardiomelic dysplasia Dilated right heart, single atrium, interrupted aortic arch, transposition of the great arteries, ventricular septal defect, mitral atresia
Locking digits–growth defect Atrial septal defect
Lutembacher syndrome Atrial septal defect, mitral stenosis, cardiomegaly
Majewski syndrome Atrial septal defect
Marfan syndrome Dilated aortic root 95
Marshall-Smith syndrome Atrial septal defect
McDonough syndrome Atrial septal defect, ventricular septal defect, aortic stenosis, pulmonary stenosis
Meckel syndrome Atrial septal defect, ventricular septal defect
Meckel-Gruber syndrome Ventricular septal defect, atrial septal defect, coarctation, pulmonary stenosis
Mesomelic dysplasia Congenital heart disease (unspecified)
Miller-Dieker syndrome Congenital heart disease (unspecified)
Mobius syndrome Dextrocardia
Mutchinick syndrome Atrial septal defect, pulmonary stenosis
Myhre syndrome Congenital heart disease (unspecified)
Nakago syndrome Cardiomegaly, hypertrophic hypoplastic left heart syndrome
Neurofibromatosis Atrial septal defect, pulmonary stenosis, coarctation, interrupted aortic arch, ventricular septal defect, complete heart block, hypertrophic cardiomyopathy
Noonan syndrome Pulmonary stenosis, ventricular septal defect, atrial septal defect, interrupted aortic arch, coarctation, total anomalous pulmonary venous connection, hypertrophic cardiomyopathy, atrial stenosis, tetralogy of Fallot 65
Oculoauriculovertebral anomaly Interrupted aortic arch, coarctation, ventricular septal defect, tetralogy of Fallot, right aortic arch
Okihiro syndrome Atrial septal defect
Opitz syndrome Congenital heart disease (unspecified)
Opitz-Kaveggia FG syndrome Ventricular septal defect, hypoplastic left heart syndrome
Oropalatal-digital syndrome Interrupted aortic arch, coarctation
Pallister-Hall syndrome Atrioventricular septal defect
Pena-Shokeir syndrome Interrupted aortic arch, coarctation, transposition of the great arteries, right ventricular hypertrophy
Pentalogy of Cantrell Atrial septal defect, ventricular septal defect, total anomalous pulmonary venous connection, pulmonary stenosis, tetralogy of Fallot, ectopia cordis
Pierre Robin syndrome Atrial septal defect 9
Poland syndrome Tetralogy of Fallot, atrial septal defect, ventricular septal defect, interrupted aortic arch, coarctation
Polydactyly chondrodystrophy, types 1 and 2 Transposition of the great arteries, truncus arteriosus, transposition of the great arteries, double-outlet right ventricle
Polysyndactyly–cardiac malformations Atrial septal defect, ventricular septal defect, atrioventricular septal defect, single ventricle
Potter syndrome Congenital heart disease (unspecified)
Prune-belly syndrome Atrial septal defect, ventricular septal defect, pulmonary stenosis
Pulmonary venolobar syndrome Atrial septal defect, interrupted aortic arch, coarctation, dextroposition, ventricular septal defect, tetralogy of Fallot, absent right pulmonary artery
Radial-renal syndrome Ventricular septal defect
Radial-renal-ocular syndrome Atrial septal defect
Rolland-Desbuquois syndrome Congenital heart disease (unspecified)
Rubinstein-Taybi syndrome Atrial septal defect, ventricular septal defect 25
Rubinstein-Taylor syndrome Congenital heart disease (unspecified) 36
Saldino-Noonan syndrome Congenital heart disease (unspecified)
Salonen-Herva-Norio syndrome Ventricular septal defect, atrioventricular septal defect, truncus arteriosus, hypoplasia of left ventricle, double aortic arch
Schinzel-Giedion syndrome Atrial septal defect
Scimitar syndrome Atrial septal defect, interrupted aortic arch, coarctation, dextroposition, ventricular septal defect, tetralogy of Fallot, absent right pulmonary artery
Seckel syndrome Ventricular septal defect
Shone syndrome Interrupted aortic arch, coarctation
Short rib polydactyly syndrome, type II Atrial septal defect
Short rib polydactyly syndrome (non-Majewski type) Transposition of the great arteries, double-outlet left ventricle, double-outlet right ventricle, atrioventricular defect, hypoplasia of right ventricle
Siegler syndrome Ventricular septal defect
Silverman-Handmaker-type dwarfism Congenital heart disease (unspecified)
Situs inversus viscerum Atrial septal defect
Silver syndrome Tetralogy of Fallot, ventricular septal defect
Smith-Lemli-Opitz syndrome Ventricular septal defect, atrioventricular septal defect
Sofer syndrome Ventricular septal defect
Sternal-cardiac malformations association Atrial septal defect
Stevenson syndrome Congenital heart disease (unspecified) 40
Sturge-Weber anomaly Coarctation
Thanatophoric dysplasia Interrupted aortic arch, coarctation
Thalassemia major Cardiomyopathy
Thrombocytopenia–absent radius Atrial septal defect, tetralogy of Fallot, dextrocardia 33
Treacher Collins syndrome Ventricular septal defect, atrial septal defect
Tuberous sclerosis Rhabdomyoma, angioma, coarctation, interrupted aortic arch
VACTERL (vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula or esophageal atresia, renal agenesis and dysplasia, and limb defects) syndrome Hypoplastic left heart syndrome, ventricular septal defect 50
Varadi syndrome Interrupted aortic arch, coarctation
Venolobar syndrome Atrial septal defect, interrupted aortic arch, coarctation, dextroposition, ventricular septal defect, tetralogy of Fallot, absent right pulmonary artery
Velocardiofacial syndrome Ventricular septal defect, tetralogy of Fallot, right aortic arch 80
Verma-Naumoff syndrome Congenital heart disease (unspecified)
Waardenburg syndrome Ventricular septal defect
Weaver syndrome Ventricular septal defect
Weill-Marchesani syndrome Pulmonary stenosis, ventricular septal defect
William syndrome Aortic stenosis, pulmonary stenosis, ventricular septal defect, atrial septal defect, interrupted aortic arch, mitral regurgitation, tetralogy of Fallot, coarctation 100
Williams-Beuren syndrome Interrupted aortic arch, coarctation, aortic stenosis, pulmonary stenosis, ventricular septal defect, atrial septal defect, mural regurgitation, tetralogy of Fallot 100
Zellweger syndrome Ventricular septal defect, atrial septal defect
Chromosome Abnormalities
Monosomy 1q Ventricular septal defect
Monosomy 1q4 Ventricular septal defect, truncus arteriosus, pulmonary atresia, pulmonary stenosis
Monosomy 2q Atrial septal defect, coarctation, interrupted aortic arch, ventricular septal defect
Monosomy distal 4q Congenital heart disease (unspecified)
Monosomy 5p Congenital heart disease (unspecified)
Monosomy 5q (interstitial) Coarctation, interrupted aortic arch
Monosomy 6q (proximal) Congenital heart disease (unspecified)
Monosomy 7p2 Ventricular septal defect, hypoplastic left heart syndrome
Monosomy 7q1 Coarctation
Monosomy 8p2 Ventricular septal defect, pulmonary stenosis
Monosomy 9 (mosaic) Coarctation, interrupted aortic arch
Monosomy 10q2 Ventricular septal defect, pulmonary stenosis
Monosomy 11q Ventricular septal defect, truncus arteriosus 50
Monosomy 13q Congenital heart disease (unspecified) 55
Monosomy 14q Atrial septal defect
Monosomy 14q Atrial septal defect
Monosomy 16q Ventricular septal defect
Monosomy 18q Congenital heart disease (unspecified) 25
Monosomy 22 Congenital heart disease (unspecified)
Monosomy 22q (DiGeorge syndrome) Ventricular septal defect, coarctation, truncus arteriosus, transposition of the great arteries, tetralogy of Fallot, interrupted aortic arch, double-outlet right ventricle 95
Partial monosomy 9p Congenital heart disease (unspecified)
Partial monosomy 11p Tetralogy of Fallot, cardiomyopathy
Partial trisomy 10q Congenital heart disease (unspecified) 50
Partial trisomy 14q Congenital heart disease (unspecified)
Partial trisomy 22 (Cat-eye syndrome) Total anomalous pulmonary venous connection, ventricular septal defect, atrial septal defect 40
T 20p syndrome Ventricular septal defect, tetralogy of Fallot
Tetrasomy 9p Congenital heart disease (unspecified)
Trisomy 1q25-1q32 Congenital heart disease (unspecified)
Trisomy 1q32-QTER Truncus arteriosus
Trisomy 2q Ventricular septal defect, aortic stenosis
Trisomy 3q2 Congenital heart disease (unspecified) 33
Trisomy distal 4q Congenital heart disease (unspecified)
Trisomy 4p Congenital heart disease (unspecified)
Trisomy 5p Congenital heart disease (unspecified)
Trisomy 5p3 Ventricular septal defect
Trisomy 5q3 Congenital heart disease (unspecified)
Trisomy 6p2 Ventricular septal defect
Trisomy 7p2 Ventricular septal defect
Trisomy 7q2-3 Congenital heart disease (unspecified)
Trisomy 8 (mosaic) Ventricular septal defect, atrial septal defect 50
Trisomy 9 (mosaic) Ventricular septal defect, coarctation, double-outlet right ventricle, atrial septal defect 50
Trisomy 9p Ventricular septal defect 26
Trisomy 10p Congenital heart disease (unspecified)
Trisomy 11p Congenital heart disease (unspecified)
Trisomy 12p Ventricular septal defect
Trisomy 13 (Patau syndrome) Ventricular septal defect, atrial septal defect, dextroposition, hypoplastic left heart syndrome, atrioventricular septal defect, tetralogy of Fallot, coarctation, interrupted aortic arch 90+
Trisomy 13q Congenital heart disease (unspecified)
Trisomy 14p Ventricular septal defect
Trisomy 14 (mosaic) Tetralogy of Fallot 90
Trisomy 15q2 Ventricular septal defect
Trisomy 16p Atrial septal defect, tetralogy of Fallot
Trisomy 16q Congenital heart disease (unspecified)
Trisomy 18 (Edwards syndrome) Bicuspid aortic valve, pulmonary stenosis, ventricular septal defect, atrial septal defect, atrioventricular septal defect, double-outlet right ventricle, coarctation, interrupted aortic arch 99+
Trisomy 18p Coarctation, interrupted aortic arch
Trisomy 19q Congenital heart disease (unspecified)
Trisomy 20p Congenital heart disease (unspecified)
Trisomy 20ptr ≈ q11 Ventricular septal defect
Trisomy 21 (Down syndrome) Atrioventricular septal defect, ventricular septal defect, atrial septal defect, tetralogy of Fallot, coarctation, interrupted aortic arch, pulmonary atresia 50
Trisomy 22 Atrial septal defect, ventricular septal defect 67
Triploidy Atrial septal defect, ventricular septal defect
Turner syndrome (45X) Bicuspid aortic valve, aortic stenosis, coarctation, ventricular septal defect, atrial septal defect, atrioventricular septal defect, pulmonary stenosis, interrupted aortic arch, total anomalous pulmonary venous connection 20+
4p− (Wolf syndrome) Atrial septal defect, ventricular septal defect 40
5p− (cri-du-chat syndrome) Ventricular septal defect 30
9p− Ventricular septal defect, pulmonary stenosis