Cardio

Question 1

Hypertrophic cardiomyopathy

Answer 1

• 1/500
• reduced penetrance
• 50-60%
• AD nonsyndromic: MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, MYL2, MYL3, TPM1)
• XL syndromic: Fabry (GLA), Danon (LAMP2)

Question 2

Dilated cardiomyopathy

Answer 2

• 1/2700
• reduced penetrance
  -detection rate: >20%
• AD nonsyndromic: MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, MYL2, MYL3, TPM1, LDB3
  -AD: LMNA
  XL: Barth (TAZ)
  Many mitochondrial genes

Question 3

Long QT syndrome

Answer 3

• 1/3,000-5,000 (AD); 1/200,000 (AR)
• syncope, aborted cardiac arrest, sudden death (10-15% of LQT sudden death=1st symptom)
• 13 genes (mostly KCNQ1, KCNH2, SCN5A)
• AR KCNQ1=Jervell and Lange-Nielsen syndrome: LQt + SNHL

Question 4

Brugada syndrome

Answer 4

• saddleback ST segment elevation
• males 8-10x more likey to develop symptoms
• cardiac arrest in sleep
• ICD=only proven therapy
• 1/2,000
• AD, 9 genes, 25-40% detection rate

Question 5

CHDs

Answer 5

• 8/1,000
• recurrence 3-5% (parent?)
• GATA4, NKX2,3,4,5

Question 6

Familial hypercholesterolemia

Answer 6

• AD: 1/200-500 caucasian, 1/67 south African AJ
• AR=rare (same genes)
• 5% of all pts. w/ hypercholesterolemia
• 3 genes=60-80% of FH
• LDLR, APOB, PCSK9