Flashcards in Genetic cardiology Deck (16)
What are the medication causes of left ventricular hypertrophy?
What is the adult diagnostic criteria for HCM?
>15mm wall thickness in any one myocardial segment not explained by loading conditions
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
What is the echo definition of LVOTO?
Instant peak Doppler LV outflow tract pressure gradient >30mmhg at rest
What LVOTO gradient is generally considered to be haemodynamically significant?
SAM results in mitral regurgitation or what orientation?
Why is this important?
If regurg jet is oriented centrally or anteriorly, should consider intrinsic mitral valve abnormality
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
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
In the setting of HCM, what features on echo make Danon Pompe disease more likely?
1. Extreme concentric LVG >30mm
2. Global LV hypokinesis
In the setting of HCM, what features on echo makes Noonans Syndrome more likely?
1. RVOT obstruction
2. RV wall thickness
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
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
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
Clinical features that suggest HCM over atheletes heart?
Family history of HCM
Family history of sudden cardiac death <40 years of age
Echo features that suggest HCM over atheletes heart?
Raised diastolic indices
(13-16mm is indeterminate)