Genetics and CVD Flashcards
What is Down Syndrome?
Trisomy 21.
Linked to 15% of AV septal defects.
What is cystic hygroma?
Associated with CHD.
~15% of foetuses/newborns with CHD have abnormal chromosomes.
What is Turner Syndrome?
45, X.
Causes coarctation of the aorta.
Signs - short stature, puffy hands.
What syndromes with neck webbing are associated with CVD?
Noonan - pulmonary stenosis.
Short stature and characteristic facies.
CFC - Noonan-like, with developmental delay.
Leopard - Noonan-like, with deafness.
Costello - Noonan-like, with cardiomyopathy.
What are the signs of 22q11 deletion syndrome?
Cardiac malformation.
Abnormal facies.
Thymic hypoplasia.
Cleft palate.
Hypoparathyroidism.
What is Williams Syndrome?
Aortic stenosis.
Characteristic facies, cocktail party manner.
Deletion of elastin on chromosome 7.
What are teratogens?
Fetal alcohol syndrome.
Antiepileptic drugs.
Rubella.
Maternal diabetes.
What are genetic cardiac diseases?
CV CT disease - Marfan(-like).
Familial arrhythmias - long QR, Brugada, ARVC.
Familial cardiomyopathy - HCM and DCM.
What is Marfan Syndrome?
A multisystem autosomal dominant disease.
Tall stature, pectus carinatum, arachnodactyly, mild aortic root dilatation.
What are the Ghent 2010 criteria?
Aortic dilatation or dissection.
Ectopia lentis.
Systemic (skin, respiratory, MV prolapse, myopia, dural ectasia).
Unequivocally affected relative.
Fibrillin 1 gene mutation.
7+ = positive.
What are the investigations of MFS?
Examination of clinical features.
ECHO - measure diameter of the Sinus of Valsalva, and relate to age and body SA.
X-ray, MRI (dural ectasia).
Genetic testing - confirm suspicion; predictive findings for family members.
What is the management of MFS?
Annual review.
ECHO, β-blockers, ARBs, prophylactic aortic surgery if Sinus of Valsalva exceeds 5.5cm yearly.
Monitor aortic root frequently in pregnancy if diameter >4cm (high risk of aortic stiffness and rupture).
Surgery (mechanical vs valve sparing; personalised external aortic support).
What are Marfan-like syndromes?
Loeys-Dietz syndrome - arterial dissection, bifid uvula or cleft palate.
Familial thoracic aortic aneurysms.
MASS phenotype - myopia, MV prolapse, mild aortic dilatation.
What is Long QT syndrome?
Romano-Ward Syndrome - the most common form; syncope, ‘seizure’, sudden death.
ECG - prolonged QT interval, repolarisation anomalies (T/U waves).
Paroxysmal polymorphic VT (TdP).
Jervell Lange-Neilsen syndrome - as above, plus congenital sensorineural deafness.
What precipitates Long QT syndrome?
Exercise (swimming) - broad T wave.
Noise/arousal - notched T wave.
Sleep/bradycardia - biphasic T wave.
