1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

Cardiovascular conditions

 

1. Genetic testing is available through specialist cardiac or Genetics Services for:
2. Familial hypercholesterolaemia (FH)
   
3. Some forms of cardiomyopathy
   
4. Primary arrhythmogenic disorders such as familial long QT syndrome
   
5. Cardiac effects associated with connective tissue conditions (Marfan and Ehlers-Danlos syndromes)
   
6. Congenital heart defects associated with specific syndromes
7. Diagnostic criteria for familial hypercholesterolaemia are based on the modified UK criteria:
   a DNA mutation
   b Tendon xanthomas in patient or 1° /2° relative
   c Family history of MI <50 yrs in 2° relative or <60 yrs in 1° relative
   d Family history of cholesterol >7.5 in 1° or 2° relative
   e Cholesterol >7.5 (adult) or >6.7 (age <16 yrs)
   f LDL-C >4.9 (adult) or >4.0 (age <16 yrs)

 

Diagnosis	Combinations of criteria as described above
Definite FH	(e or f) + a
Probable FH	(e or f) + b
Possible FH	(e or f) + (c or d)

 

1. In a family history of sudden unexpected cardiac death, particularly in the young (≤35yrs), consider referral of all 1° relatives to specialist cardiac and Genetics Services.

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