Notes in Cardiac Genetics

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Status	Last Update	Fields
Published	10/26/2023	Different genetic testing modalitiesKaryotype• broad, visual inspection of chromosomes to assess for chromosome {{c1::number}} and large {{c1::structu…
Published	10/26/2023	Trisomy 21• {{c5::hypotonia}} (decreased muscle tone), {{c6::flat}} facies, slanted palpebral fissures, small {{c7::ears}}, protruding {{c7::tongue}}•…
Published	10/26/2023	Holt-Oram Syndrome• Autosomal dominant: {{c4::heterozygous}} mutation in {{c4::TBX5}}*TBX5 regulates (distal) limb and cardiac development, particular…
Published	10/26/2023	Turner Syndromean aortopathy• loss of part or all of an {{c2::X}} chromosome (aka. {{c2::monosomy X}})possible mosaic (multiple cell lines) (cl…
Published	10/26/2023	CHARGE Syndrome• most often {{c1::sporadic}} mutations in {{c1::CHD7}}*but rarely can be inherited in autosomal dominant fashion• presentation: {…
Published	10/26/2023	Loeys Dietz Syndrome (LDS) vs Marfan Syndromesimilarities- both are single {{c4::gene}} disorders- chest wall deformities/depression- {{c6::scoliosis}…
Published	10/26/2023	Loeys Dietz Syndrome• genes: {{c1::TGFB(R)}}1/2/3, SMAD3*autosomal dominant• severe aortic root {{c2::dilation}}, {{c3::bifid}} uvula, scoliosis,…
Published	10/26/2023	Marfan Syndrome• mutation in gene {{c2::FBN1}}autosomal dominant• aortic root dilation + {{c1::ectopia}} lentisOR aortic root dilation and systemic …
Published	10/26/2023	inherited arrythmias- usually {{c2::single gene}} mutations *most are autosomal {{c3::dominant}} in inheritance pattern - many primary cardi…
Published	10/26/2023	{{c5::Long}}-QT Syndrome• Most commonly due to {{c1::heterozygous}} mutation in cardiac {{c2::potassium}}-and {{c2::sodium}}-channel genes*autosomal {…
Published	10/26/2023	Genetic testing interpretation and consent- ALWAYS {{c1::voluntary}}, NEVER {{c1::mandated}}*even when deadly disease is suspected- requires discussio…
Published	10/26/2023	22q11.2 Deletion (DiGeorge) Syndrome• > {{c2::40}} genes are deleted, so it is caused by a {{c2::copy number variant (CNV)}} • CHD with.... → {{c1:…
Published	10/26/2023	{{c3::Kearns-Sayre}} Syndrome• {{c2::mitochondrial}} myopathy with an onset <20 years *"ragged red" muscle fibers• progressive external {…
Published	10/26/2023	{{c7::Vascular Ehlers-Danlos}} syndrome ({{c7::vED}}S)• mutation in {{c1::collegen}} gene {{c1::COL3A1}} inherited via autsomal {{c2::dominant}} …
Published	10/26/2023	How is a variant classified as {{c1::pathogenic}}: - {{c5::exact mutation}} has been reported in other {{c4::cases}} and segr…
Published	10/26/2023	{{c1::Brugada}} Syndrome• single gene {{c3::heterozygous}} (autosomal dominant), {{c4::loss}} of function mutation in {{c2::SCN5A}}&nbs…
Published	10/26/2023	{{c3::CHD}}: → Holt-Oram→ 22q11.2 Deletion→ Trisomy 21{{c2::Aortopathies}}: → Turner syndrome→ Williams Syndrome→ TGFβ associated disea…
Published	10/26/2023	• recurrence risks for isolated (Non-{{c1::syndromic}}) CHDs such as isolated, non-{{c1::syndromic}} TOF is 2.5–3%   • if this was a syndrom…
Published	10/26/2023	{{c1::Alagille}} Syndrome• {{c2::point}} mutation (>90%) or large, encompassing {{c2::deletions}} (~5-7%) in {{c3::JAG1}} gene*{{c8::NOTCH2}} …
Published	10/26/2023	Congenital Heart Disease (CHD): one or more structural or functional abnormalities of the heart or great vessels that is present at {{c1::birth}}, ari…
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Published	10/26/2023	Short QT syndrome• Gain of function mutations in {{c1::KCN}}H2, {{c1::KCN}}Q1, and {{c1::KCN}}J2 *encode different potassium ion channels involve…
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