Diverse Flashcards
Causes of congenital heart disease
Chromosomal (trisomies/monomies)
Microdeletions
Single gene mutations
Teratogens (e.g. rubella, alcohol)
Chromosomal syndromes associated with congenital heart disease
Down syndrome (trisomy 21)
- translocation
- atrio-ventricular septal defects
Turner syndrome (45, X) -coarctation of aorta
Microdeletion syndromes associated with congenital heart disease
22q11 deletion syndrome
-outflow tract cardiac malformation
Williams syndrome
-supravalvular aortic coarctation
Single gene mutation syndromes associated with congenital heart disease
Noonan syndrome
-pulmonary stenosis
Marfan syndrome
-aortic dilatation/dissection
Long QT syndrome
An inherited mutation affecting myocyte repolarisation
= increased risk of arrhythmias which can result in sudden cardiac death
*Important to genetically test family members who can then be treated
Multifactorial inheritance
Many factors (environmental and genetic) are involved in causing a birth defect.
Types of genetic cardiac disease
Cardiovascular Connective Tissue Disease
e.g. Marfan syndrome
Familial Arrhythmias (↑ risk sudden cardiac death) e.g. Long QT, Brugada
Familial Cardiomyopathies
e.g. Hypertrophic cardiomyopathy, Dilated cardiomyopathy
Relevance of a genetic diagnosis
More accurate prognosis
Lifestyle changes (e.g. sports)
More appropriate treatment
Management of a family with a genetic diagnosis
Cascade screening
= systematic family tracing to identify people at risk of a genetic condition
Management of Marfan syndrome
Beta blockers + ARBs (slow rate of dilatation)
Aortic root surgery
DVT symptoms
(unilateral) limb swelling
Persistent discomfort
Calf tenderness
DVT signs
Pitting oedema
Prominent collateral veins
Warmth
Redness (erythema)
DVT investigations
Pre-test probability score (Wells score)
D-dimer blood test (A breakdown product of cross-linked fibrin)
Compression ultrasound: If a thrombus is present, the vein is not compressible with the ultrasound probe
DVT management
AIM: To prevent clot extension, embolization and recurrence
ANTICOAGULATION:
Heparin
Warfarin
Direct oral anticoagulants (DOACs)
PREVENTION IN HOSPITAL:
Early mobilisation
Mechanical and pharmacological thrombophrophylaxis
Pulmonary thromboembolism symptoms
common and massive
Pleuritic chest pain
Dyspnoea
Haemoptysis
MASSIVE PE:
Syncope
*May cause sudden death
Pulmonary thromboembolism signs
common and massive
Tachycardia Pleural rub (usually due to pulmonary infarction)
MASSIVE PE:
Central cyanosis
Hypotension
Raised JVP
Pulmonary thromboembolism investigations
Pre-test probability (Wells/ Geneva score)
V/Q scan: Low perfusion in PE
CT pulmonary angiogram: Shows occlusion of pulmonary artery
D-dimer: High
ECG: Tachycardia
Blood Gases: ↓PCO2 + Hypoxia
Pulmonary thromboembolism management
common and massive
COMMON = ANTICOAGULATION ONLY:
Heparin
Warfarin
Direct oral anticoagulants
RESERVED FOR MASSIVE PE:
Thrombolysis
Pulmonary embolectomy
Dilated cardiomyopathy pathophysiology
Muscle weakness = ↓ Ejection fraction, Ventricles dilate to maintain SV.
Atria dilate due to back-up of blood
↓Outflow of blood
Restrictive cardiomyopathy pathophysiology
Reduced compliance of ventricle wall due to fibrosis or infiltration
Impairs diastolicmfilling.
↓Outflow of blood