Block 3 Genetics Of Cardiomyopathies- Sands
Taken from Dr sands lecture- read closely as some questions appear VERY similar
Questions and Answers
- 1.
A 25 year old male comes to your office complaining of shortness of breath, chest pain, palpitations, lightheadedness with occasional fainting spells. You suspect congestive heart failure, but upon taking a family history the patient reveals that an uncle and cousin just “dropped dead” while playing football and basketball, respectively. You decide that an echocardiogram should be done immediately. The echocardiogram reveals a thickened ventricular septal wall of 3.2 cm. What gene is most likely mutated and causing this person’s symptoms?
- A.
α-Myosin heavy chain
- B.
Cardiac troponin
- C.
Titin
- D.
Cardiac troponin T
- E.
Ventricular essential myosin light chain
Correct Answer
D. Cardiac troponin TExplanation
The correct answer is Cardiac troponin T. In this case, the patient's symptoms of shortness of breath, chest pain, palpitations, lightheadedness, and fainting spells, along with a thickened ventricular septal wall, are indicative of hypertrophic cardiomyopathy (HCM). HCM is often caused by mutations in genes encoding sarcomeric proteins, such as cardiac troponin T. Mutations in this gene can lead to abnormal contraction of the heart muscle, resulting in the symptoms described by the patient.Rate this question:
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- 2.
Which of the following glycogen storage diseases is due to the lack of 1,4-glucosidase?
- A.
Danon Disease
- B.
Fabry Disease
- C.
Pompe Disease
- D.
PRKAG2 lysosome storage disease
- E.
Von Gierke’s disease
Correct Answer
C. Pompe DiseaseExplanation
Pompe Disease is the correct answer because it is a glycogen storage disease caused by the deficiency of the enzyme 1,4-glucosidase, also known as acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down glycogen into glucose in the lysosomes of cells. In Pompe Disease, the lack of this enzyme leads to the accumulation of glycogen in various tissues, particularly in muscles, causing muscle weakness and other symptoms.Rate this question:
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- 3.
A 26 year old male comes to your office complaining of shortness of breath, chest pain, palpitations, lightheadedness with occasional fainting spells. You suspect congestive heart failure, but upon taking a family history the patient reveals that an uncle and cousin just “dropped dead” while playing soccer and basketball, respectively. You decide that an echocardiogram should be done immediately. The echocardiogram reveals a thickened ventricular septal wall of 3.2 cm. What gene is most likely mutated and causing this person’s symptoms?
- A.
α-Myosin heavy chain
- B.
Titin
- C.
Cardiac binding protein C. CMyBP-C
- D.
Cardiac troponin I
- E.
Ventricular essential myosin light chain
Correct Answer
C. Cardiac binding protein C. CMyBP-CExplanation
The correct answer is Cardiac binding protein C (CMyBP-C). This is because a thickened ventricular septal wall is a characteristic finding in hypertrophic cardiomyopathy (HCM), which is commonly caused by mutations in the gene encoding cardiac binding protein C. HCM is an inherited condition that can cause symptoms such as shortness of breath, chest pain, palpitations, and fainting spells. Therefore, the patient's family history of sudden cardiac death during physical activity and the echocardiogram findings point towards HCM caused by a mutation in the CMyBP-C gene.Rate this question:
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- 4.
Which of the following glycogen storage diseases is due to a (LAMP2) deficiency?
- A.
Danon Disease
- B.
Fabry Disease
- C.
Pompe Disease
- D.
PRKAG2 lysosome storage disease
- E.
Von Gierke’s disease
Correct Answer
A. Danon DiseaseExplanation
Danon disease is a glycogen storage disease that is caused by a deficiency of the LAMP2 protein. LAMP2 is involved in the breakdown and removal of cellular waste products, including glycogen. Without sufficient LAMP2, glycogen accumulates within cells, leading to the symptoms associated with Danon disease.Rate this question:
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- 5.
A young athlete suddenly faints while playing football. The football’s medical team cannot revive him. He is pronounced dead and an autopsy is performed. The coroner’s report indicates that the boy had an enlarged right ventricle and much of his heart muscle was replaced with fibrofatty tissue. This information is sufficient for you to make a diagnosis of the cause of death. What do you put as the cause of death on his death certificate?
- A.
HCM
- B.
DCM
- C.
Fabry’s Disease
- D.
RCM
- E.
ARVC
Correct Answer
E. ARVCExplanation
The correct answer is ARVC. ARVC stands for Arrhythmogenic Right Ventricular Cardiomyopathy, which is a genetic heart condition that affects the muscle tissue in the right ventricle of the heart. The autopsy findings of an enlarged right ventricle and fibrofatty tissue replacement in the heart muscle are consistent with ARVC. This condition can lead to abnormal heart rhythms and sudden cardiac arrest, which could explain the athlete's sudden fainting and death while playing football.Rate this question:
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- 6.
Your patient has requested that his heart be check by an EKG (ECG). After careful analysis of the recordings of his heart function, you note that the QT segment is longer than it should be. What kind of genetic mutation is the most likely to have caused his heart problem?
- A.
A mutation that increases the repolarization time
- B.
A mutation that decreases the repolarization time
- C.
A mutation in one of his sodium channels.
- D.
A mutation in one of his calcium channels
- E.
A mutation in one of the cytoskeleton proteins that is associated with ion channels
Correct Answer
A. A mutation that increases the repolarization timeExplanation
A mutation that increases the repolarization time is the most likely to have caused his heart problem because the QT segment represents the time it takes for the ventricles to repolarize. If the repolarization time is longer than it should be, it can lead to a prolonged QT interval, which is associated with an increased risk of arrhythmias and sudden cardiac death.Rate this question:
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- 7.
Which of the following glycogen storage diseases is due to a galactosidase A (GLA) deficiency?
- A.
Danon Disease
- B.
Fabry Disease
- C.
Pompe Disease
- D.
PRKAG2 lysosome storage disease
- E.
Von Gierke’s disease
Correct Answer
B. Fabry DiseaseExplanation
Fabry Disease is a glycogen storage disease that is caused by a deficiency of the enzyme galactosidase A (GLA). This enzyme is responsible for breaking down a type of fat called globotriaosylceramide (Gb3) in the body. Without enough GLA, Gb3 accumulates in various tissues and organs, leading to a wide range of symptoms including pain, skin rashes, kidney problems, and cardiovascular complications. Therefore, Fabry Disease is the correct answer to the question.Rate this question:
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- 8.
Which of the channelopathies is most frequently caused by mutations in the ryanodine receptor channel?
- A.
Long QT Syndrome
- B.
Short QT Syndrome
- C.
Brugada Syndrome
- D.
Cardiac conduction disease
- E.
Catecholaminergic polymorphic ventricular tachycardia
Correct Answer
E. Catecholaminergic polymorphic ventricular tachycardiaExplanation
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is the channelopathy that is most frequently caused by mutations in the ryanodine receptor channel. CPVT is a genetic disorder that affects the heart's electrical system, leading to abnormal heart rhythms. The ryanodine receptor channel plays a crucial role in regulating calcium release in cardiac muscle cells. Mutations in this channel can disrupt calcium homeostasis, leading to the development of CPVT. This condition is characterized by exercise-induced arrhythmias and can be life-threatening if not properly managed.Rate this question:
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- 9.
Which of the channelopathies is most frequently associated with ST segment elevation in the right precordial leads, and increased risk of sudden cardiac death , and is endemic in Southeast Asia?
- A.
Long QT Syndrome
- B.
Short QT Syndrome
- C.
Brugada Syndrome
- D.
Catecholaminergic polymorphic ventricular tachycardia
Correct Answer
C. Brugada SyndromeExplanation
Brugada Syndrome is most frequently associated with ST segment elevation in the right precordial leads, increased risk of sudden cardiac death, and is endemic in Southeast Asia. This syndrome is characterized by abnormal electrical activity in the heart, specifically in the ventricles. It is caused by mutations in the SCN5A gene, which affects the sodium channels in the heart. These mutations can lead to abnormal heart rhythms and potentially life-threatening arrhythmias. Brugada Syndrome is more commonly found in Southeast Asia, particularly in countries like Japan and the Philippines.Rate this question:
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- 10.
A young athlete suddenly faints while playing soccer. He cannot be revived and is pronounced dead and an autopsy is performed. The coroner’s report indicates that the boy had an enlarged left ventricle with a ventricular wall thickness of 1.2cm. This information is sufficient for you to make a diagnosis of the cause of death. What do you put as the cause of death on his death certificate?
- A.
HCM
- B.
DCM
- C.
Fabry’s Disease
- D.
RCM
- E.
ARVC
Correct Answer
B. DCMExplanation
The cause of death on the young athlete's death certificate would be Dilated Cardiomyopathy (DCM). This is indicated by the coroner's report mentioning an enlarged left ventricle with a ventricular wall thickness of 1.2cm. DCM is a condition where the heart becomes weakened and enlarged, leading to poor pumping of blood. This can result in heart failure and sudden cardiac arrest, which could explain the athlete's sudden fainting and inability to be revived.Rate this question:
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- 11.
Your patient has requested that his heart be check by an EKG (ECG). After careful analysis of the recordings of his heart function, you note that the QT segment is shorter than it should be. What kind of genetic mutation is the most likely to have caused his heart problem?
- A.
A mutation that increases the repolarization time
- B.
A mutation that decreases the repolarization time
- C.
A mutation in one of his sodium channels
- D.
A mutation in one of his calcium channels
- E.
A mutation in one of the cytoskeleton proteins that is associated with ion channels.
Correct Answer
B. A mutation that decreases the repolarization timeExplanation
A mutation that decreases the repolarization time is the most likely to have caused his heart problem. Repolarization is the process of resetting the electrical potential of the heart after each heartbeat. If the repolarization time is shorter than it should be, it means that the heart is not fully resetting before the next heartbeat, which can lead to irregular heart rhythms and other heart problems. Therefore, a mutation that decreases the repolarization time would disrupt the normal electrical activity of the heart and cause the observed QT segment to be shorter.Rate this question:
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- 12.
A 24 year old male comes to your office complaining of shortness of breath, chest pain, palpitations, lightheadedness with occasional fainting spells. You suspect congestive heart failure, but upon taking a family history the patient reveals that an uncle and cousin just “dropped dead” while playing football and basketball, respectively. You decide that an echocardiogram should be done immediately. The echocardiogram reveals a thickened ventricular septal wall of 3.2 cm. What gene is most likely mutated and causing this person’s symptoms?
- A.
B-Myosin heavy chain
- B.
Cardiac troponin
- C.
Titin
- D.
Cardiac troponin I
- E.
Ventricular essential myosin light chain
Correct Answer
A. B-Myosin heavy chainExplanation
The correct answer is B-Myosin heavy chain. In this case, the patient's symptoms, family history, and echocardiogram findings suggest a genetic mutation that is causing the thickening of the ventricular septal wall. Myosin heavy chain is a protein involved in muscle contraction, and mutations in the gene encoding this protein can lead to hypertrophic cardiomyopathy, which is characterized by thickening of the heart muscle. Therefore, it is likely that a mutation in the myosin heavy chain gene is causing this person's symptoms.Rate this question:
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Mar 15, 2023Quiz Edited by
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