Review Note
Last Update: 10/26/2023 03:29 PM
Current Deck: SrikAnki::Term 2 - CRR::Week 5::Cardiac Genetics
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Holt-Oram Syndrome
• Autosomal dominant: {{c4::heterozygous}} mutation in {{c4::TBX5}}
*TBX5 regulates (distal) limb and cardiac
development, particularly the septum and conduction system
• CHD (75%, structural defects): {{c3::ASD}}, VSD
*{{c3::ASD}} also called “common atrium”
• {{c1::Conduction}} defects: sinus bradycardia, {{c2::AV}} node {{c5::block}}
(1st → 3rd degree)
*use Holter to evaluate for this heart {{c5::block}} for diagnosis
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