Genetics of CV Disease Flashcards
Down Syndorme
Trisomy 21
15% atrioventricular septal defects
Turners syndrome
45,X Coarctation of aorta Short stature Gondal dysgenesis (infertility) Lymphodeoma in hands and feet
Genetic conditions involving neck webbing
Turner syndrome Noonan syndrome CFC syndrome Leopard syndrome Costello syndrome
Noonan syndrome
Pulmonary stenosis Short stature Neck webbing Cryptorchidism Characteristic face PTP NII gene (chromosome 12) Autosomal dominant
Cardio-facio-cutaneous (CFC)
Noonan like
Ectodermal problems
Developmental delay
Leopard syndrome
Noonan like
Multiple lentigenes
Deafness
Costello syndrome
Noonan syndrome plus Thickened skin folds Susceptible to warts Cardiomyopathy Later cancer risk
22q11 deletion syndrome
CATCH22 Cardiac malformation Abnormal facies Thymic hypoplasia Cleft palate 22q11 deletion Also - Renal problems - Psyciatric problems - Floppy overfolded ears - Small mouth - buldging tip of nose - Speech delay/palatal dysfunction
Williams syndrome
Aortic stenosis Hypercalcaemia 5th finger clinodactly Characteristic face Cocktail party manner Deletion of elastin on chromosome 7 Deletion of contiguous genes LIM kinase
Marfan syndrome
Autosomal dominant Multisystem Connective tissue (Fibrillin 1 gene, chromosome 15 q21)
Features of marfans
Tall stature
Long fingers
Aortic dissection
Ectopia lentis
Causes of congenital heart diseases
Chromosomal: tisomies/monosomies
Microdeletions: 22q11 deletions, Williams
Single gene (single nucleotide variation): noonan/CFC, marfans
Teratogens: rubella, alcohol, anti-epileptic drugs, maternal diabetes mellitus
Other: vacterl
Multifactorial: isolated CHD
Foetal anti-convulsant syndromes
Characteristic faces
Malformation patterns
Developmental delay
Common and specific features
Diagnosis of Marfan syndrome
2 Systems findings must be positive - CVS: aortic dilatation/dissection - Eyes: ectopia lentis - Systemic score > or including 7 a) Skeletal b) Skin c) Respiratory d) Dural ectasia e) mitral valve prolapse f) Myopia - Family history - Fibrillin 1 Additional tests - ECHO - MRI/pelvic Xray - Possibly fibrillin 1 gene mutation genetic test
Genetic testing for LQT in Scotland
Full mutation screening in
- KCNQ1
- KCNH2
- SCN5A
- KCNE1
- KCNE2
