Genetic Conditions Flashcards
Marfan’s Syndrome: Define
Disorder of Connective Tissue Decreased extracellular microfibril formation Poor elastic fibres Autosomal Dominant Mutated Fibrillin 1 gene
Marfan’s Syndrome: Characteristics:
Loose flexible joints Lens dislocation (superiorly and medially) Abnormally long limbs - Tall Abnormally long fingers & toes Aortic Dissection/Dilation Heart Defects - Mitral Valve Prolapse
Marfan's Syndrome: Investigations: M C - Criteria - Score
MRI
CXR - Apical Blebs
GHENT 2010 Criteria:
CVS, Eyes, Family History, Fibrillin 1 mt
Systemic Score (2+):
Scholiosis/Kyphosis, Pectus Deformity, Thumb-wrist, foot-ankle, reduced elbow extension, myopia, mitral valve prolapse, pneumothorax, face, striae, protrusia
Marfan’s Syndrome Syndrome: Treatment
MDT Angiotensin Receptor Blocker (ARBS) (Sartan's) Beta Blockers (Lol's) Prophylactic Aortic Surgery Physiotherapy
Wolff-Parkinson White Syndrome: Define
Congenital accessory conducting pathway between atria & ventricles -> atrioventricular re-entry tachycardia (AVRT)
Accessory pathway does not slow conduction - AF rapidly degenerates to Ventricular Fibrillation.
Wolff-Parkinson White Syndrome: Associations
Hypertrophic Obstructive Cardiomyopathy Mitral Valve Prolapse Ebstein's anomaly Thyrotoxicosis Ostium Secundum Atrial Septal Defect
Wolff-Parkinson White Syndrome: Type & ECG Reading
Type A:
Type B:
Type A: left sided pathway - dominant R wave in V1
Type B: right sided pathway - NO dominant R wave in V1
Wolff-Parkinson White Syndrome: Investigations:
ECG:
Dominant R wave (left sided pathway)
short PR interval
wide QRS - slurred upstroke delta wave
left axis deviation - right sided pathway
right axis deviation - left sided pathway
Wolff-Parkinson White Syndrome: Management:
Anti-arrhythmic Drugs: Sotalol Amiodarone Flecanide Procedures: Radiofrequency ablation of accessory pathway*
Postural Hypotension: Define
Fall in systolic BP > 20 mmHg on standing
Postural Hypotension: Causes:
Hyovolaemia Autonomic dysfunction - diabetes, parkinsons Drugs/Drink Causes: Diuretics Antihyperensives L-Dopa Phenothiazines Antidepesents Sedatives Alcohol
Teratogens:
Fetal Alcohol Syndrome
Antiepilectic Drugs
Rubella
Maternal Diabetes Melitus
22q11 Deletion Syndromes
1.
2.
DiGeorge Syndrome
Shprintzen Syndrome
22q11 Deletion Syndrome CATCH22PR
Cardiac malformation Abnormal facies Thymic hypoplasia Cleft palete 22q11 mutation Pyschological impairment Renal impairment
22q11 Deletion Syndrome - DiGeorge Syndrome
Sporadic
Hypoparathyroidism
Outflow Tract cardiac malformation
Thymic Hypoplasia
22q11 Deletion Syndrome - Sphrintzen Syndrome
Cleft Palete - Palatal Insufficiency
Outflow Tract cardiac malformation
Characteristic Face
Autosomal Dominant
Noonan’s Syndrome: AD
Characteristics:
Autosomal Dominant *Bleeding problems* *Pulmonary Stenosis* Cryptorchidism Characteristic face PTPN11 mutation Short Stature Neck Webbing Other similar conditions: *Cardio-Facio-Cutaneous* Leopard Syndrome Costello Syndrome
William Syndrome
Characteristic
*Aortic Stenosis* - supravalvular Deletion of Elastin on Chr 7 Deletion of Contiguous Genes 5th Finfer Clinodactyly LIM Kinase Characteristic Face Broad Face Short nose Full Cheeks Appearance - Elf-like Hypercalcemia
Down Syndrome: Characteristics: Trisomy 21
Learning Disability & Physical Features
Atrioventricular Septeal Defects (shunt - myxoma)
Duodenal Atresia (congential absence/closure of the lumen of duodenum)
Cystic Hygroma (armpits & neck) lyphatic lesion.
Turners Syndrome Definition
Chromosomal Developmental in Females *AORTIC COCARCTATION* Short Stature (seen at 5yrs) Ovarian Hypofunction (Gonadal Dysgenesis) Puffy hands
Turner’s Syndrome
Aortic Coarctation
William Syndrome
Aortic Stenosis
Deletion of Elastin on Chr 7
Noonan’s Syndrome
Bleeding problems
Pulmonary Stenosis
22q11 Deletion: DiGeorge Syndrome & Sphrintzen Syndrome
Outflow Tract cardiac malformation
Down Syndrome
Atrioventricular Septeal Defects (shunt - myxoma)*
Duodenal Atresia (congential absence/closure of the lumen of duodenum)
