Cardiac associations with systemic disease
Structural
Dextrocardia
- 22q11.2 del CATCH 22 (Cardiac abnormality, Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcemia/Hypoparathyroidism)
- (DiGeorge syndrome + velocardiofacial syndrome and others)
- Interrupted aortic arch, truncus arteriosus, tetralogy of Fallot, A/VSD, vascular ring)
- Alagille syndrome (bile duct hypoplasia, peripheral PA stenosis)
- Trisomy 21 (AV septal defect)
- Noonan syndrome (varying gene mutations)
- PS, ASD, hypertrophic cardiomyopathy
- Williams syndrome (7q11.23)
- supravalvular AS, branch PS, hypercalcemia
- Marfan's
- Atrioventricular valve thickening/prolapse > if MR severe > PHTN/SVT
- Aortic root aneurysm > dissection (>haemorragic cardiac tamponade)and AR
- Dilated cardiomyopathy
- Prolonged QT
- NF1 (associated with Noonan's) >as for Noonan's
- COA
- PHTN
- Pulmonary Artery Stenosis
- Turner’s (XO): elongation of the transverse aortic arch and CoA, Bicuspid AV, and aortic sinus dilatation > aortic dissection, PAPVD
- VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities)
- VSD, ASD, HLHS, PDA, TGA, TOF
- CHARGE (most have CHD7 gene mutation) (coloboma of the retina or the iris, heart anomalies, choanal atresia, mental retardation, genital and ear anomalies)
- Any CHD, cyanotic (conotruncal) more common than acynotic
- TSC: rhabdomyoma
- Muscular dystrophy (dilated)
- cytotoxic treatments (myocarditis > necrosis > dilated)
Dextrocardia