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Flashcards in Genetic cardiology Deck (16)
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1

What are the medication causes of left ventricular hypertrophy?

Anabolic steroids
Hydroxychloroquine
Tacrolimus

2

What is the adult diagnostic criteria for HCM?

>15mm wall thickness in any one myocardial segment not explained by loading conditions

3

What is the differential diagnosis for hypertrophic cardiomyopathy?

1. Sarcomeric Protein Mutation
2. Amyloidosis (AL,TTR)
3. Inborn errors of metabolism
- Glycogen Storage Disorders
- Lysosomal Storage Disorders
4. Mitochondrial disorders
- MELAS, MERFF
5. Neuromuscular Disease (Friedrichs)
6. Malformation Syndromes (Noonans, Leopard)
7. Drug Induced
8. Haemochromatosis

4

What is the echo definition of LVOTO?

Instant peak Doppler LV outflow tract pressure gradient >30mmhg at rest

5

What LVOTO gradient is generally considered to be haemodynamically significant?

>50mmhg

6

SAM results in mitral regurgitation or what orientation?

Why is this important?

Inferolateral orientation

If regurg jet is oriented centrally or anteriorly, should consider intrinsic mitral valve abnormality

7

In the setting of HCM, what features on echo make amyloidosis more likely?

1. Increased interatrial septal thickness
2. Increased AV valve thickness
3. Rv free wall thickness
4. Pericardial effusion
5. Ground glass myocardium

8

In the setting of HCM, what features on echo make Fabrys disease more likely?

1. Increases AV valve thickness
2. RV free wall thickness
3. Concentric LVH

9

In the setting of HCM, what features on echo make Danon Pompe disease more likely?

1. Extreme concentric LVG >30mm
2. Global LV hypokinesis

10

In the setting of HCM, what features on echo makes Noonans Syndrome more likely?

1. RVOT obstruction
2. RV wall thickness

11

When is septal reduction surgery indicated for patients with HCM?

1. Resting or maximum provoked LVOT gradients >50mmhg who are NYHA class 3-4 despite maximal medical therapy
2. Recurrent exertional syncope causes by LVOT gradient >50mmhg despite optimal medical therapy

12

What factors favour surgical myomectomy over septal alcohol ablation?

1. Other indication for CTSx (mitral valve or pap muscle interventions)
2. Very severe hypertrophy >30mm
3. Extensive septal scarring on CMR

13

When is mitral valve surgery considered in HCM without primary mitral valve disease?

Septal thickness <17mm at pint of mitral leaflet septal contact with LVOT gradient >50mmhg

14

Clinical features that suggest HCM over atheletes heart?

Family history of HCM
Cardiovascular symptoms
Family history of sudden cardiac death <40 years of age

15

Echo features that suggest HCM over atheletes heart?

EDD <45mm
Raised diastolic indices
Large LA
Asymmetric hypertrophy
Hypertrophy >16mm
(13-16mm is indeterminate)

16

MRI that suggest HCM over atheletes heart?

LGE uptake
Elongation of the mitral valve leaflets
Right ventricular hypertrophy