ABGC Exam | Q&A Latest Update 2024/2025 | 100% PASS

ABGC Exam | Q&A Latest Update 2024/2025 | 100% PASS Holt-Oram Syndrome - Answer -TBX5, AD, high penetrance, 1/3 de novo Upper limb defects (preaxial radial ray anomaly: radial, carpal and ulnar bones), congenital heart malformation (mostly Secundum atrial septal defect) and conduction disease. Refer to cardio, orthopedist, hand surgeon. Hereditary Hemorrhagic Telangiectasia - Answer -AD, LOF mutations in ENG (40-60%), ACVRL1 (25-55%), or SMAD4 (1-2%), or GDF2 (rare). SMAD4 mutations can also cause Juvenile Polyposis Syndrome. Large AVMs can present in the lungs, liver, and brain. telangiectases in oral/nasal cavity, lips, face, chest, and fingers, usually onset in late teens. Frequent epistaxis: 95%, onset at 12yo. GI bleeding: 25%, usually onset after 50yo Brugada syndrome - Answer -AD, 23 genes, usually LOF in SMAD4. only 1% de novo. Cardiac conduction abnormality, can cause syncope, V fib, cardiac arrest, sudden death (SIDS or SUNDS). Most common in SE Asians.