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Diagnostic ultrasound ( PDFDrive )

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1272 PART IV Obstetric and Fetal Sonography

TABLE 37.1 Congenital Heart Disease and Associated Risk Factors—cont’d

Factor Frequency Most Common Lesions

Kartagener

Klippel-Feil

Laurence-Moon (Bardet-Biedl)

Leopard

Meckel-Gruber

Noonan

Pallister-Hall

Pierre Robin

Poland

Refsum

Seckel

Smith-Lemli-Opitz

Treacher Collins

Rubinstein-Taybi

Silver

Short rib polydactyly (non-Majewski type)

Thrombocytopenia absent radius (TAR)

VACTERL

Waardenburg

Weill-Marchesani

Williams

Zellweger

Dextrocardia

VSD, TGA, TAPVR

VSD

PS

VSD, ASD, coarctation, PS, PDA

PS, VSD, ASD, PDA

Unspeciied CHD

ASD

TOF, ASD, PDA, VSD

A-V conduction defects

VSD, PDA

VSD, PDA

VSD, ASD, PDA

ASD, VSD, PDA

TOF, VSD

TGA, DOLV, DORV, HRH, AVSD

ASD, TOF, dextrocardia

Unspeciied CHD

VSD

PS, VSD

Supravalvular AS, PS, VSD, ASD

VSD, ASD, PDA

CHROMOSOMAL

Trisomy 13 (Patau) 90% VSD, ASD, dextroposition, PDA

Trisomy 18 (Edward) 99% Bicuspid AV, PS, VSD, ASD, PDA

Trisomy 21 (Down) 50% A-V canal, VSD, ASD, PDA

Triploidy

ASD, VSD

5p− (cri du chat) 30% Unspeciied CHD

9p−

VSD, PS, PDA

Partial trisomy 10q 50% Unspeciied CHD

13q−

Unspeciied CHD

T 20p syndromes

VSD, TOF

Turner (45,X) 20% Bicuspid AV, AS, coarctation, VSD, ASD, AVSD

8 trisomy (mosaic) 50% VSD, ASD, PDA

9 trisomy (mosaic) 50% VSD, coarctation, DORV

13 q 25% VSD

+14q 50% ASD, TOF, PDA

18q 50% VSD

XXXXY 14% ASD, ARCA, PDA

DISEASES AND CONDITIONS

Crouzon

Neuroibromatosis

Tuberous sclerosis

Thalassemia major

Coarctation, PDA

PS, coarctation

Rhabdomyoma, angioma

Cardiomyopathy

AO, Aorta; ARCA, anomalous right coronary artery; AS, aortic stenosis; ASD, atrial septal defect; AV, aortic valve; A-V, atrioventricular; AVSD,

atrioventricular septal defect; CHD, congenital heart disease; DOLV, double-outlet left ventricle; DORV, double-outlet right ventricle; HLHS,

hypoplastic left heart syndrome; HRH, hypoplastic right heart; MA, mitral atresia; PA, pulmonary atresia; PDA, patent ductus arteriosus; PS,

pulmonary stenosis; TA, tricuspid atresia; TAPVR, total anomalous pulmonary venous return; TGA, transposition of great arteries; TOF, tetralogy

of Fallot; truncus, truncus arteriosus; VSD, ventricular septal defect.

Data from Lachman RS and Donofrio MT. 45,251

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