Emphasizing the importance of daily physical activity according to functional capacity, and decreasing sed- Table 10. Underlying Genetic Syndromes Commonly Associated With CHDS3.9-4,S3.9-6 Syndrome Genetic Abnormality Clinical Features Common Cardiac Findings DiGeorge syndrome (velocardiofacial syndrome) 22q11.2 deletion Thymic and parathyroid hypoplasia, immunodeficiency, low-set ears, hypocalcemia, speech and learning disorders, renal anomalies, psychiatric disease IAA type B, aortic arch anomalies, truncus arteriosus, TOF 25% 75% have CHD, depending on age studiedS3.9-7,S3.9-8 Down syndrome Trisomy 21 Developmental disability, characteristic facial features, hypotonia, palmar crease ASD, VSD, AVSD, TOF 40% 50% have CHD TBX5 Upper limb skeletal abnormalities ASD, VSD, MV disease 75% have CHD Klinefelter syndrome 47 XXY Tall stature, hypoplastic testes, delayed puberty, developmental disability PDA, ASD, MV prolapse 50% have CHD RAF1, NRAS, BRAF, Facial anomalies, webbed neck, chest deformity, short stature, lymphatic abnormalities, bleeding abnormalities PS, ASD, HCM 80% have CHD Turner syndrome 45X Short stature, webbed neck, lymphedema, primary amenorrhea Coarctation, BAV, aortic stenosis, hypoplastic left heart, ascending aortopathy 30% have CHD Risk of aortic dissection Williams syndrome 7q11.23 deletion Elfin face, social personality, hearing loss, developmental delay, infantile hypercalcemia Supravalvar aortic stenosis, peripheral PS 50% 80% have CHD ASD indicates atrial septal defect; AVSD, atrioventricular septal defect; BAV, bicuspid aortic valve; CHD, congenital heart disease; HCM, hypertrophic cardiomyopathy; IAA, interrupted aortic arch; MV, mitral valve; PDA, patent ductus arteriosus; PS, pulmonary stenosis; TOF, tetralogy of Fallot; and VSD, ventricular septal defect. CLINICAL STATEMENTS AND GUIDELINES entary behavior as appropriate for the patient s clinical status is essential when counseling patients with con- genital heart defects.S3.10-9 Interestingly, most patients with ACHD lead healthier lifestyles compared with con- suggesting that this patient popula- tion may be receptive to advice and may continue to benefit from recommendations about diet, activity, and modifiable risk factors. 