Genetic Syndromes Cardiac Flashcards¶
Down Syndrome¶
Q: What is the prevalence of CHD in Down syndrome? A: ~50% of live births Tags: down-syndrome, epidemiology, high-yield
Q: What is the most common CHD in Down syndrome? A: Atrioventricular septal defect (AVSD) - 40-45% Tags: down-syndrome, avsd, high-yield
Q: Should cardiac screening be done for all Down syndrome infants? A: YES - echo ALL infants regardless of exam (physical exam misses ~50%) Tags: down-syndrome, screening, high-yield
Q: What unique consideration affects Down syndrome CHD surgery? A: Higher pulmonary hypertension risk - earlier repair often needed Tags: down-syndrome, ph
Turner Syndrome¶
Q: What is the prevalence of CHD in Turner syndrome? A: 20-50% Tags: turner, epidemiology
Q: What is the most common CHD in Turner syndrome? A: Bicuspid aortic valve (15-30%) Tags: turner, bav, high-yield
Q: What is the aortic dissection risk in Turner syndrome? A: 27-40x higher than general population (164 vs 6 per 100,000 patient-years) Tags: turner, dissection, high-yield
Q: How is aortic risk assessed in Turner syndrome? A: Aortic Size Index (ASI) = diameter/BSA; ≥2.5 cm/m² = at-risk Tags: turner, asi, high-yield
Q: What imaging is preferred for Turner aortic surveillance? A: MRI (visualizes entire aorta better than echo) Tags: turner, imaging
Other Syndromes¶
Q: What are the cardiac findings in Noonan syndrome? A: Pulmonary stenosis (most common), HCM, ASD Tags: noonan, cardiac
Q: What cardiac lesions are associated with Williams syndrome? A: Supravalvar AS (most common), peripheral PS, coronary ostial stenosis Tags: williams, cardiac, high-yield
Q: What cardiac lesions are associated with 22q11.2 deletion? A: Conotruncal defects - TOF, interrupted aortic arch, truncus arteriosus Tags: digeorge, 22q11, cardiac, high-yield