ABGC Cardiovascular Genetics (2013 and 2011-2012 Tutorial)

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This term is used to describe an
excessively rapid heartbeat.

• Long QT syndrome
• Sinus rhythm
• Bradycardia
• Tachycardia
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Terms in this set (50)
Which of the following disorders
is characterized by the muscle
that makes up the left ventricle
stretching and becoming thinner,
eventually spreading to the right
ventricle and atria?

• Arrhythmogenic Right Ventricular Dysplasia
• Restrictive cardiomyopathy
• Hypertrophic cardiomyopathy
• Dilated cardiomyopathy
Which of the following is generally not true about sudden cardiac arrest? • Death occurs within 1 hour of the onset of cardiac symptoms • More than 80% of individuals who have sudden cardiac arrest survive • Symptoms include chest pain, palpitations, dizziness, lightheadedness, and/or syncope. • 25-50% of affected individuals have no prior heart medical historyBWhat percentage of individuals who have sudden cardiac death have a heart that is apparently structurally normal? • Less than 1% • 5% • 25% • Greater than 30%BMutations in which gene make up the majority of pulmonary arterial hypertension (PAH)? • ENG • ACVRL1 • BMPR2 • MYBPC3CWhich of the following does NOT increased the risk of sudden cardiac arrest/death? • Coronary artery disease • Hypertrophic cardiomyopathy • Long QT syndrome • All of the above are associated with an increased risk of sudden cardiac arrest/deathDWhich of the following is FALSE about coronary artery disease? • Most often the result of a single gene mutation • Most often multifactorial • Risk factors include sedentary lifestyle, smoking, obesity, and high-fat diet • Genetic testing is generally not part of routine care at this timeAMutations in the LDL receptor gene are associated with which of the following? • Familial hypertension • Familial hypercholesterolemia • Familial orthostaic hypotension • Hereditary hemorrhagic telangiectasiaBWhich of the following is TRUE about genetic testing for familial hypercholesterolemia (FH)? • There is no genetic testing clinically available because FH is a multifactorial disease. • The benefit of genetic testing for HF is that screening can begin early for elevated cholesterol levels and risk factors can be modified before onset of disease • Genetic testing for FH has no clinical utility • FH is an autosomal recessive disorderBWhich of the following is TRUE with regard to presymptomatic testing for cardiovascular disease? • A positive test does not guarantee that disease will become symptomatic. • A positive test seriously jeopardizes the individual's ability to obtain health insurance coverage. • The term "presymptomatic testing" typically applies to multifactorial disorders. • The term "presymptomatic testing" applies when an individual is showing signs or symptoms of the disorder.AWhich term most closely considers the chance that the genetic test will reveal variants of unknown significance, false positive, or false-negative results? • Stigmatization • Analytical validity • Clinical validity • Clinical utilityCWhich of the following can cause hypertrophic cardiomyopathy? • Aging • Hypertension • Single gene mutations • All of the aboveDDilated cardiomyopathy is most often displays a(n) _______________ inheritance pattern. • Autosomal recessive • Autosomal dominant • X-linked • MitochondrialBWhich of the following is FALSE with regard to familial hypercholesterolemia? • Homozygotes have earlier age of onset and more severe disease • Characterized by significant elevations in total serum cholesterol and LDL cholesterol early in life • Increases the risk of coronary artery disease and myocardial infarction • Associated with no characteristic physical featuresDWhat is the approximate penetrance of pulmonary arterial hypertension with a BMPR2 mutation? • Less than 10% • 20% • 50% • Greater than 90%BWhich is FALSE regarding dilated cardiomyopathy (DCM)? • May be caused by mutations associated with sarcomeric proteins or proteins associated with the contractile apparatus. • Mutations in TTN are the most common known genetic cause of DCM. • May be associated with conduction system disease. • Mutations in fewer than 10 genes have been found to be associated with DCM.DWhich is FALSE with regard to hypertrophic cardiomyopathy? • May present with shortness of breath (particularly with exertion), chest pain, palpitations, and syncope • May be asymptomatic • Occurs exclusively in adults • Can lead to sudden cardiac deathCMutations in GLA result in ________________________. • Fabry disease, which can present with HCM • Noonan syndrome, which can present with HCM • Danon disease, which can present with HCM • Wolff-Parkinson-White (WPW) syndrome, which can present with HCMAGenerally what phenotype is most likely if an individual has more than one mutation that is associated with hypertrophic cardiomyopathy? • Embryonic lethal • Severe dysmorphic features • Earlier age of onset of hypertrophic cardiomyopathy • No difference from hypertrophic cardiomyopathy with one mutationCMutations in the DMD gene may result in ____________________. • A predominant cardiac phenotype (dilated cardiomyopathy) • A predominant skeletal muscle phenotype (Duchenne or Becker muscular dystrophy) • A predominant conduction system disorder (polymorphic arrhythmias) • Both A and BDThe myocardium is the muscle of the heart, which starts off as a spongy layer that compresses between weeks 5 and 8 of embryonic development. If this layer does not compact as tightly as it should, the result is _______________. • Restrictive cardiomyopathy • Obstructive cardiomyopathy • Hypertrophic cardiomyopathy • Non-compaction cardiomyopathyDWhich can be used to diagnose hypertrophic cardiomyopathy? • Echocardiogram, electrocardiogram, physical exam and history • Heart tissue sample • Genetic testing • All of the aboveDThe inheritance pattern most often observed in noncompaction cardiomyopathy is ___________________. • Autosomal recessive • Autosomal dominant • X-linked • MitochondrialB"Torsades de pointes" is a characteristic EKG abnormality observed in ______________. • Brugada syndrome • Long QT syndrome • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)BUsing the Schwartz criteria, a diagnosis of Long QT syndrome can be made based on ___________________. • Family history and genetic testing • Heart biopsy • EKG findings, clinical history, and family history • Cardiac MRI, exercise stress test, and clinical historyCMutations in ________________ each make up about 40% of HCM. • TNNT2 and TNNI3 • MYH7 and MYBPC3 • MYL2 and MYL3 • ACTC1 and ACTN2BWhich is true with regard to Short QT syndrome? • Clinical presentation is indistinguishable from Long QT syndrome • Variable penetrance • Autosomal dominant • All of the aboveDSudden unexpected nocturnal death syndrome (SUNDS) and _____________ are considered to be the same disorder. • Brugada syndrome • Long QT syndrome • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)AWhich of the following is generally NOT helpful in making a diagnosis of Brugada syndrome? • EKG • Myocardial biopsy • Review of family history • Review of clinical historyBMutations in which gene make up 15-30% of Brugada syndrome (the greatest proportion of Brugada syndrome compared to any other known gene)? • SCN5A • CACNA1C • SCN1B • KCNE3APulmonary arterial hypertension is characterized by: • Narrowing of the pulmonary trunk (main pulmonary artery) • Widespread obstruction and obliteration of the smallest pulmonary arteries • Obstruction of the pulmonary veins • Decreased resistance to blood flow through the lungsBWhich is NOT a characteristic trigger of arrhythmia in the most common types of Long QT syndrome? • Fever • Exercise • Emotion • Rest/sleepAThe most common symptom of pulmonary arterial hypertension (PAH) is __________________. • Syncope • Dyspnea • Reynaud's phenomenon • FatigueBWhich of the following is FALSE with regard to Jervell and Lange- Nielsen syndrome? • Inheritance pattern is autosomal recessive • Characterized by LQTS and sensorineural deafness • Characterized by LQTS and blindness • Caused by mutations in KLQT1 (KCNQ1) and KCNE1CPulmonary arterial hypertension can occur along with __________________, particularly with mutations in ACVRL1. • Fabry disease • Timothy syndrome • Romano-Ward syndrome • Hereditary hemorrhagic telangiectasiaDWhich cardiomyopathy is characterized by progressive fibrofatty replacement of the myocardium, predisposing to ventricular tachycardia and sudden death? • Hypertrophic cardiomyopathy • Dilated cardiomyopathy • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)CWhich of the following may be used in a clinical diagnosis of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)? • Tissue biopsy • Arrhythmias • Family history • All of the aboveDWhich disorder is characterized by cardiac electrical instability (QRS complexes with frequent and rapid changes in morphology) triggered by acute activation of the adrenergic nervous system? • Hypertrophic cardiomyopathy • Dilated cardiomyopathy • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)DApproximately what percentage of individuals with hypertrophic cardiomyopathy have more than one mutation? • 0% • 5% • 10% • 20%BWhich of the following is TRUE about familial TTR amyloidosis? • Caused by mutations in the BMPR2 gene. • The V122I mutations is common in the African-American population. • Inheritance pattern is autosomal recessive. • De novo mutations occur in less than 1% of cases.BWhich of the following should be included in a family history when evaluating for cardiovascular disease? • History of accidental death, including circumstances • History of fainting, including circumstances • History of seizures, including information about response to medication • All of the aboveDWhich of the following is TRUE about psychosocial issues in cardiovascular genetics? • There are no psychosocial issues in cardiovascular genetics because the conditions can be managed with medication and/or implantable cardioverter defibrillators. • The psychosocial issues in cardiovascular genetics are very unique to these diseases and have no overlap with other universal counseling issues. • Psychosocial issues in cardiovascular genetics may include issues surrounding uncertainty, changes in perception of health, and guilt or blame.C