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02. Cardiovascular System > Congenital Heart Disease and Genetic Heart Disease > Flashcards

Congenital Heart Disease and Genetic Heart Disease Flashcards

1
Q

<p>What are the causes of congenital heart disease?</p>

A

<p>Chromosomal (trisomies / monosomies)</p>

<p>Microdeletions (22q11 deletion, Williams)</p>

<p>Single gene (Noonan/CFC, Marfan)</p>

<p>CNV or SNV (Copy number variation / Single nucleotide variation)</p>

<p>Teratogens</p>

<p>Other</p>

<p>Multifactorial</p>

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2
Q

<p>What does CNV stand for?</p>

A

<p>Copy number variation(CNVs)</p>

<p>Sections of the genome are repeated and the number of repeats in the genome varies between individuals in the human population.</p>

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3
Q

<p>What does SNV stand for?</p>

A

<p>Single nucleotide variation</p>

<p>A variation in a single nucleotide without any limitations of frequency</p>

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4
Q

<p>What are the congenital heart defects associated with Downsyndrome? (trisomy 21)</p>

A

<p>Atrioventricular septal defects</p>

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5
Q

<p>What is the main risk factor attached to bearing a child with down syndrome?</p>

A

<p>Maternal age</p>

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6
Q

<p>What is used to determine the presence of down syndrome?</p>

A

<p>Nuchal scan -detect cardiovascular abnormalities</p>

<p>Increased nuchal translucency associated with pathology</p>

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7
Q

<p>What is the percentage of fetuses/newborns with CHD have abnormalities with chromosomes?</p>

A

<p>19% of fetuses</p>

<p>13% of newborns</p>

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8
Q

<p>What heart defects is Turner syndrome associated with? (45,X)</p>

<p></p>

A

<p>Coarctication of the aorta</p>

<p>(Short stature, puffy hands, gonadal dysgenesis)</p>

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9
Q

<p>What causes neck webbing?</p>

A

<p>Excess nuchal folds</p>

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10
Q

<p>What syndromes are associated with neck webbing?</p>

A

<p>Turner syndrome</p>

<p>Noonan syndrome</p>

<p>CFC syndrome</p>

<p>Leopard syndrome</p>

<p>Costello syndrome</p>

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11
Q

<p>What is the effect of noonan syndrome on circulation?</p>

A

<p>Pulmonary valvular stenosis (50–60%)</p>

<p>Septal defects:atrial(10–25%) orventricular(5–20%)</p>

<p>Hypertrophic cardiomyopathy(12–35%)</p>

<p></p>

<p>Also causes (short stature, neck webbing, cryptorchidism (he absence of one or both testes from the scrotum), characteristic face)</p>

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12
Q

<p>What gene is responsible for noonan syndrome?</p>

A

<p>PTPN11 mutation</p>

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13
Q

<p>What are the noonan like syndromes?</p>

A

<p>lCardio-Facio-Cutaneous (CFC)</p>

<p>lLeopard syndrome</p>

<p>lCostello syndrome</p>

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14
Q

<p>What pathway are Leopard, Noonan, CFC and Costello syndrome all associated with?</p>

A

<p>Associated with mutations in the MAPK pathway(Mitogen activated Protein Kinase)</p>

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15
Q

<p>What does CATCH 22 refer to?</p>

A

<p>Cardiac malformation</p>

<p>Abnormal facies</p>

<p>Thymic hypoplasia</p>

<p>Cleft palate</p>

<p>Hyperthyroidism</p>

<p>22q11 deletion</p>

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16
Q

<p>What is the most common microdeletion syndrome?</p>

A

<p>22q11 deletion syndrome</p>

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17
Q

<p>What conditions does 22q11 deletion syndrome encompass?</p>

A

<p>DiGeorge and velocardiofacial syndrome (Shprintzen)</p>

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18
Q

<p>What are the sings/symptoms associated with DiGeorge syndrome?</p>

A

<p>Thymic hypoplasia</p>

<p>Hypoparathyroidism</p>

<p>Outflow tract cardiac malformation</p>

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19
Q

<p>What are the signs/symptoms associated with Velocardiofacial syndrome?</p>

A

<p>lCleft palate/palatal insufficiency</p>

<p>lOutflow tract cardiac malformation</p>

<p>lCharacteristic face</p>

<p>lAutosomal dominant</p>

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20
Q

<p>What percentage of 22q11 deletion syndrome is familial?</p>

A

<p>about 25%</p>

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21
Q

<p>What are LRC's and how do they predispose 22q11 to deletion and translocation?</p>

A

<p>LCR's are highly homologoussequence elements within theeukaryotic genome.</p>

<p>Misalignment of LCRs duringnon-allelic homologous recombination(NAHR) is an important mechanism underlying thechromosomal microdeletion disorders.</p>

<p></p>

<p>(Non-allelic homologous recombination(NAHR) is a form ofhomologous recombinationthat occurs between two lengths of DNA that have high sequence similarity, but are notalleles. It usually occurs between sequences of DNA that have been previously duplicated through evolution, and therefore have low copy repeats)</p>

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22
Q

<p>What are the heart problems associated with Williams syndrome?</p>

A

<p>Aortic stenosis (supraclavicular)</p>

<p>Hypercalcaemia</p>

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23
Q

<p>What causes Williams syndrome?</p>

A

<p>Deletion of elastin on chromosome 7</p>

<p>Deletion of contiguous genes (deletion or duplication that removes severalgeneslying in close proximity to one another on the chromosome)</p>

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24
Q

<p>List some teratogens</p>

A

<p>Alcohol</p>

<p>Antiepileptic drugs</p>

<p>Rubella (congenital rubella syndrome - causes heart defects among many other things)</p>

<p>Maternal Diabetes Mellitus</p>

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25
Q

<p>Who is the biggest factor on whether or not you will get a congenital heart disease?</p>

A

<p>Mother - if mother is affected the risk is much higher than sibling or father</p>

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26
Q

<p>What is VSD associated with?</p>

A

<p>Folate deficiency</p>

27
Q

<p>What are the specific types of genetic cardiac disease?</p>

A

<p>Cardiovascular connective tissue disease</p>

<p>Familial Arrhythmias</p>

<p>Familial Cardiomyopathy</p>

28
Q

<p>What are the typical features of Marfan's syndrome?</p>

A

<p>Tall stature</p>

<p>Pectus carinatum</p>

<p>Arachnodactyly (long fingers)</p>

<p>Lens subluxation</p>

<p>Aortic dilation/dissection</p>

<p>A high, arched palate and crowded teeth.</p>

<p>Heart murmurs.</p>

<p>Extreme nearsightedness.</p>

<p>An abnormally curved spine.</p>

<p>Flat feet.</p>

29
Q

<p>What is the inheritance pattern associated with Marfan syndrome?</p>

A

<p>Autosomal dominant</p>

30
Q

<p>What gene is responsible for Marfan syndrome?</p>

A

<p><strong>Fibrillin 1 gene</strong></p>

<p>Chromosome 15q21</p>

<p>TGFbR 2 (and TGFbR 1)</p>

<p>chromosome 3p22 (9q33)</p>

31
Q

<p>What is the clinical diagnosis of marfan syndrome?</p>

A

<p>Ghent criteria - 2 system findings must be positive</p>

32
Q

<p>What are the skeletal features of marfans syndrome?</p>

A

<p>Arm span exceeds height</p>

<p>Scoliosis/kyphosis</p>

<p>Pectus deformity</p>

<p>Thumb and wrist</p>

<p>Foot/ankle</p>

<p>Reduced elbow extension</p>

33
Q

<p>Most features are assessed clinically: When should additional tests be done?</p>

A

<p>Echocardiography mandatory in every case</p>

<p>Undertake MRI and/or pelvic X-ray where diagnosis would change if positive</p>

<p>MRI used to detect dural ectasia(Dural ectasiais widening or ballooning of theduralsac surrounding the spinal cord)</p>

<p>Pelvic X-Ray for protrusio acetabuli</p>

<p></p>

<p></p>

34
Q

<p>What percentage of marfan patients have a detectable fibrillin 1 mutation?</p>

A

<p>70-90% of Marfan patients</p>

35
Q

<p>What is the relationship between fibrillin and TGF beta</p>

A

<p>Incorporation of fibrillin into microfibrils results in proteolytic release of TGF beta</p>

<p>TGFb signalling affects cell proliferation, differentiation and apoptosis</p>

<p>TGFb antibodies, or the TGFb antagonist Losartan rescue the Marfan phenotype in Fibrillin deficient mice.</p>

36
Q

<p>What are the marfan like syndromes?</p>

A

<p>Loeys-Dietz Syndrome</p>

<p>Marfan Syndrome type 2</p>

<p>Familial Thoracic Aortic Aneurysms</p>

<p>MASS phenotype</p>

37
Q

<p>What is the risk assoicated with a aortic root dilitation? (feature of marfans)</p>

A

<p>The primary risk that adilationpresents is that theaorta can stretch the valve, weakening or even tearing the heart.</p>

38
Q

<p>What is the investigation used to monitor marfans syndrome?</p>

A

<p>Echocardiogram</p>

<p>Aortic root is frequently monitored during pregnancy if the diameter exceeds 4 cm.</p>

39
Q

<p>When is there a need for prophylactic aortic surgery?</p>

A

<p>When the sinus of the vasalva exceeds5.5 cm or 5% growth per year (2 mm in adults)</p>

40
Q

<p>What are the drugs given to marfan syndrome people?</p>

A

<p>Beta blockers</p>

<p>Angiotensin II Receptor Blockers</p>

41
Q

<p>What is a common cause of sudden unexpected death?</p>

A

<p>Arrythmia</p>

<p>Channelopathy present - majority of these have a long QT</p>

42
Q

<p>What is responsible for ion channelopathies?</p>

A

<p>Genes</p>

43
Q

<p>When is arrythmia brought on whith the KCNQ1 mutation? And what is the T wave pattern on a 12 lead ECG?</p>

A

<p>Excersize, particularly swimming - normal / broad T-wave pattern</p>

44
Q

<p>When is arrythmia brought on when the KCNH2 mutation is present?</p>

<p>Amd what is the T wave pattern on a 12 lead ECG like?</p>

A

<p>Noise/arousal</p>

<p>e.g telephone ring, alarm clock</p>

<p>ECG is: Notched</p>

45
Q

<p>When is arythmia brought on with the SCN5A mutation? And what is the T wave pattern?</p>

A

<p>Sleep/bradycardia</p>

<p></p>

<p>Biphasic T waves</p>

46
Q

<p>What are the genes KCNQ1, KCNH2 and SCN5A responsible for?</p>

A

<p>Ion channels in the heart, however they are responsible for long QT ionchannelopathies</p>

47
Q

<p>Why is genotyping useful for Long QT channelopathies?</p>

A

<p>Gene carriers are susceptible to arrythmias</p>

<p>Can indicate prognosis</p>

<p>Helps identify the correct treatment</p>

48
Q

<p>What is possible treatment for long QT?</p>

A

<p>Beta blockers</p>

49
Q

<p>What does QTc stand for?</p>

A

<p>QT interval</p>

50
Q

<p>What is Brugada syndrome?</p>

<p></p>

A

<p>Ion channel disorder</p>

<p>Defective sodium channel</p>

<p>Autosomal dominant</p>

<p>Normally not lethal</p>

<p>Causes ST elevation in most patients</p>

<p>Can cause diziness and fainting</p>

<p>Also associated with SCN5A</p>

51
Q

<p>What is treatement for Brugada syndrome?</p>

A

<p>Defib</p>

52
Q

<p>Give an example of familial cardiomyopathy</p>

A

<p>Hypertrophic cardiomyopathy</p>

53
Q

<p>What is the presence of hypertrophic cardiomyopathy?</p>

A

<p>1/500</p>

54
Q

<p>What is hypertrophic cardiomyopathy?</p>

A

<p>A disease in which the heart muscle (myocardium) becomes abnormally thickHypertrophic cardiomyopathy usually is inherited.</p>

<p>It's caused by a change in some of the genes inheart muscleproteins. HCM also can develop over time because of high blood pressure or aging. Diseases such as diabetes orthyroid diseasecan cause hypertrophic cardiomyopathy</p>

55
Q

<p>What genes are often mutated in hypertrophic cardiomyopathy?</p>

A

<p>Mutation in one of the genes that encode a protein from the sarcomere, Z-disc or intracellular calcium modulators.</p>

56
Q

<p>What is ARVC?</p>

A

<p>ARVCis a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.</p>

<p></p>

<p>The walls of the ventricle become thin and stretched.</p>

<p>Eventually there is weakening of both the left and right ventricle.</p>

<p></p>

<p>ARVC can also causeabnormal heart rhythms, because your heart’s normal electrical impulses are disrupted as they pass through areas of damaged and scarred muscle cells.</p>

57
Q

<p>What are the common findings in an ARVC echocardiogram?</p>

A

<p>Dilated right ventricle</p>

58
Q

<p>What is the ECG findings for ARVC?</p>

A

<p>Effort induced polymorphic tachycardia (LBBB pattern)</p>

<p>T wave inversion V2-3 on resting ECG</p>

59
Q

<p>What inheritance pattern does ARVC follow?</p>

A

<p>Autosomal dominant</p>

60
Q

<p>What is dilated cardiomyopathy?</p>

A

<p>Dilated cardiomyopathy(DCM) is a condition in which the heart's ability to pump blood is decreased because the heart's main pumping chamber, the left ventricle, is enlarged and weakened. In some cases, it prevents the heart from relaxing and filling with blood as it should.</p>

61
Q

<p>What are the relevant genetic tests associated with dilated cardiomyopathy?</p>

A

<p>LMNA, SCN5A, dystrophin and the sarcomere genes</p>

62
Q

<p>What are the common symptoms associated with dilated cardiomyopathy?</p>

A

<p>Palpitations</p>

<p>Light-headedness</p>

<p>Fainting</p>

<p>Breathlessness</p>

<p>Abnormal heart rhythms</p>

<p>Swollen ankles or legs</p>

<p>Swelling in the abdomen</p>

<p>Risk ofsudden deathon exertion</p>

63
Q

<p>What conditions should be excluded when determining the cause of the symptoms?</p>

<p>(Palpitations</p>

<p>Light-headedness</p>

<p>Fainting</p>

<p>Breathlessness</p>

<p>Abnormal heart rhythms</p>

<p>Swollen ankles or legs</p>

<p>Swelling in the abdomen</p>

<p>Risk ofsudden deathon exertion)</p>

A

<p>Ischaemic heart disease (angiography)</p>

<p>Hypertension</p>

<p>Skeletal muscle disease (neurology/genetics evaluation, CPK)</p>

<p>Alcohol abuse (history and biochemical evidence)</p>

<p>Exposure to cardiotoxic drugs (history)</p>

<p>Haemochromatosis (ferritin/genotyping)</p>

64
Q

<p>What is cascade screening?</p>

A

<p>When an abnormal ECG is detected, 3 generation family history is collected, ECG's for first degree relatives, search for mutations in genome of original patient.</p>

<p>(All the way trying to determine potential familial inheritance?)</p>

<p></p>

02. Cardiovascular System (72 decks)

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