Cardiology Practice Questions

Q: A child presents with bluish discoloration of the skin and mucous membranes associated with crying or agitation. What is the most likely diagnosis?

Cyanotic breath-holding spells. ***Cyanotic breath-holding spells*** - **Cyanotic breath-holding spells** are characterized by crying or agitation leading to a brief period of apnea, followed by bluish discoloration of the skin and mucous membranes. This is a common, benign condition in young children. - These spells are often triggered by **frustration or pain** and resolve spontaneously as the child's breathing pattern returns to normal. *Acrocyanosis* - **Acrocyanosis** is a benign, persistent bluish discoloration of the hands and feet, particularly in newborns, due to increased peripheral vascular tone. - It does not typically involve the mucous membranes and is not episodic or triggered by crying/agitation as described. *Congenital heart disease* - While **congenital heart disease** can cause cyanosis, it is usually persistent or exacerbated by exertion, not specifically triggered by crying leading to a spell and subsequent recovery. - Cyanosis due to congenital heart disease often presents with other symptoms like **poor feeding, failure to thrive, or heart murmurs**, not mentioned in this case. *Methemoglobinemia* - **Methemoglobinemia** causes a generalized bluish or grayish discoloration due to impaired oxygen-carrying capacity of hemoglobin, but it is typically persistent and not episodic or related to crying/agitation. - It usually occurs due to exposure to certain **medications or toxins** and can be associated with symptoms like fatigue or dyspnea, not characteristics of this presentation.

Q: A 6-year-old child presents with signs of congestive heart failure. An echocardiogram shows a complete atrioventricular septal defect. Which syndrome is most commonly associated with this congenital heart defect?

Down syndrome. **Down syndrome** - **Complete atrioventricular septal defect (AVSD)**, also known as endocardial cushion defect, is the most common and classic congenital heart defect seen in children with **Down syndrome (Trisomy 21)**. - It accounts for approximately 40-50% of the congenital heart diseases found in individuals with Down syndrome, often leading to early signs of **congestive heart failure**. *Turner syndrome* - **Turner syndrome (45, XO)** is most commonly associated with **coarctation of the aorta** and **bicuspid aortic valve**. - While other heart defects can occur, an atrioventricular septal defect is not the most common or characteristic finding. *Noonan syndrome* - **Noonan syndrome** is frequently associated with **pulmonary stenosis** (especially dysplastic pulmonary valve) and **hypertrophic cardiomyopathy**. - **AVSD** is not a common cardiac anomaly in patients with Noonan syndrome. *DiGeorge syndrome* - **DiGeorge syndrome** (22q11.2 deletion syndrome) is typically linked to defects involving the **conotruncal region** of the heart, such as **truncus arteriosus**, **interrupted aortic arch**, and **tetralogy of Fallot**. - An atrioventricular septal defect is not the primary cardiac anomaly associated with this syndrome.

Q: A newborn presents with cyanosis, tachypnea, and poor feeding within the first week of life. On examination, the infant appears lethargic with weak peripheral pulses and a single loud S2. Echocardiography reveals hypoplastic left heart structures with a small left ventricle, mitral stenosis, and aortic stenosis. What is the most likely diagnosis?

Hypoplastic Left Heart Syndrome. ***Hypoplastic Left Heart Syndrome*** - The combination of **hypoplastic left heart structures**, **small left ventricle**, **mitral stenosis**, **aortic stenosis**, and **cyanosis presenting in the neonatal period** is the hallmark of Hypoplastic Left Heart Syndrome (HLHS). - **Presentation within the first week of life** with cyanosis, poor feeding, and weak pulses occurs as the ductus arteriosus closes, leading to severely reduced systemic perfusion. - **Single loud S2** reflects the single functional semilunar valve (pulmonary valve only). - HLHS is a **ductal-dependent lesion** requiring urgent prostaglandin therapy and surgical intervention (Norwood procedure or heart transplant). *Ebstein's Anomaly* - This anomaly primarily affects the **tricuspid valve**, leading to its displacement into the right ventricle and atrialization of part of the right ventricle. - It does not involve hypoplasia of the left heart structures or stenosis of the mitral and aortic valves, as described in this patient. - Presentation is typically less severe in the neonatal period. *Total Anomalous Pulmonary Venous Return* - This condition involves the **pulmonary veins connecting abnormally** to the systemic venous circulation, rather than directly to the left atrium. - While it causes cyanosis in neonates, it does not involve hypoplastic left heart structures or the specific valvular stenoses mentioned. - Echo would show abnormal pulmonary venous drainage, not left heart hypoplasia. *Tetralogy of Fallot* - Tetralogy of Fallot is characterized by four defects: **ventricular septal defect**, **pulmonary stenosis**, **overriding aorta**, and **right ventricular hypertrophy**. - While it causes **cyanosis**, presentation is typically more gradual (weeks to months) and not as critical in the first week of life. - It does not present with hypoplastic left heart structures, mitral stenosis, or aortic stenosis.

Q: In a child with suspected rheumatic fever, which finding is considered a major criterion according to the modified Jones criteria?

Erythema marginatum. ***Erythema marginatum*** - **Erythema marginatum** is a characteristic migratory rash that is one of the five major criteria in the modified Jones criteria for diagnosing **acute rheumatic fever (ARF)**. - Its presence, particularly with other minor criteria or evidence of a preceding **Group A Streptococcus (GAS)** infection, significantly increases the likelihood of ARF. *Arthralgia* - **Arthralgia**, or joint pain, is a **minor criterion** in the modified Jones criteria, not a major one. - While common in ARF, it lacks the specificity and diagnostic weight of arthritis (a major criterion) or other major manifestations. *Increased ESR* - An **increased erythrocyte sedimentation rate (ESR)** is a **minor criterion** indicating systemic inflammation, which is common in ARF but not specific to it. - It reflects a general inflammatory response rather than a particular manifestation of the disease. *Fever* - **Fever** is a **minor criterion** in the modified Jones criteria, reflecting the acute inflammatory nature of rheumatic fever. - It is a non-specific symptom that can be present in numerous infectious and inflammatory conditions.

Q: A 3-year-old child presents with frequent upper respiratory infections, and a continuous murmur is noted on examination. What is the most probable diagnosis?

Patent ductus arteriosus. ***Patent ductus arteriosus*** - A **continuous murmur** is the classic auscultatory finding for a PDA, often described as a "machinery-like" murmur. - Frequent **upper respiratory infections** can be a symptom of increased pulmonary blood flow due to a PDA, leading to recurrent infections and lung congestion. *Atrial septal defect* - An ASD typically presents with a **systolic ejection murmur** over the pulmonic area, due to increased flow across the pulmonic valve, not a continuous murmur. - While it can lead to recurrent respiratory infections due to pulmonary overcirculation, the characteristic murmur is different. *Ventricular septal defect* - A VSD primarily causes a **holosystolic murmur** best heard at the lower left sternal border. - It does not produce a continuous murmur, though large VSDs can also lead to increased pulmonary blood flow and frequent infections. *Pulmonary stenosis* - Pulmonary stenosis results in a **systolic ejection murmur** best heard at the upper left sternal border, often with a thrill. - It is a right-sided obstructive lesion and does not typically present with frequent upper respiratory infections as a primary symptom.

Q: A newborn exhibits cyanosis, tachypnea, and a single second heart sound with no murmur. Which condition is most consistent with this presentation?

Transposition of the great arteries. ***Transposition of the great arteries*** - This condition presents with **severe cyanosis from birth** because the aorta arises from the right ventricle and the pulmonary artery from the left ventricle, creating parallel circulations. - The **single, loud S2** occurs because the aorta is anterior and the aortic valve closure is prominent. - In **simple TGA with intact ventricular septum**, there is often **no murmur** as there is no significant obstruction or shunt aside from necessary mixing through the foramen ovale or ductus arteriosus. - This is a **cyanotic emergency** requiring urgent intervention (prostaglandin E1 to maintain ductal patency). *Tetralogy of Fallot* - While TOF does cause **cyanosis** and can have a **single S2** (due to diminished pulmonary component from severe pulmonic stenosis), it characteristically presents with a **harsh systolic ejection murmur** from right ventricular outflow tract obstruction. - The **absence of a murmur** makes TOF unlikely, as the stenotic pulmonary valve typically produces an audible murmur. *Total anomalous pulmonary venous return* - TAPVR causes **cyanosis** due to obligatory right-to-left shunting at the atrial level. - However, it typically presents with **murmurs** from increased flow across the tricuspid and/or pulmonary valves, and often has signs of **pulmonary congestion** or venous obstruction. - The cardiac examination usually reveals more findings than just a single S2. *Atrial septal defect* - ASD is an **acyanotic lesion** causing left-to-right shunting, so severe cyanosis in a newborn would not be expected. - The characteristic finding is a **fixed, widely split S2** (not single S2) due to delayed pulmonary valve closure. - A **soft systolic murmur** at the upper left sternal border from increased pulmonary flow is typical.

Q: A 3-year-old girl presents with a high fever, rash, conjunctival injection, and strawberry tongue. Laboratory results reveal elevated inflammatory markers. What is the most likely diagnosis?

Kawasaki disease. ***Kawasaki disease*** - This constellation of symptoms, including **high fever**, **rash**, **conjunctival injection**, **strawberry tongue**, and **elevated inflammatory markers** in a young child, is classic for **Kawasaki disease**. - **Kawasaki disease** is a **vasculitis** that can lead to **coronary artery aneurysms** if untreated. *Scarlet fever* - While it can present with fever, rash, and **strawberry tongue**, **scarlet fever** is caused by **Streptococcus pyogenes** and typically presents with a **sore throat** and **sandpaper-like rash**, which are not mentioned here. - Conjunctival injection is not a typical feature of scarlet fever. *Measles* - **Measles** typically presents with a prodrome of **cough**, **coryza**, and **conjunctivitis** (the 3 Cs), followed by a **maculopapular rash** that spreads from the head downwards. **Koplik spots** are also characteristic. - **Strawberry tongue** is not a feature of measles. *Rubella* - **Rubella** (German measles) causes a milder illness with fever and a distinctive **macular rash** that begins on the face and spreads rapidly, often associated with **postauricular** and **occipital lymphadenopathy**. - **Conjunctival injection** and **strawberry tongue** are not characteristic findings in rubella.

Q: A 2-month-old baby presents with central cyanosis and congestive heart failure. A chest X-ray reveals cardiomegaly with an 'egg on a string' appearance. What is the most likely diagnosis?

Transposition of Great Arteries. ***Transposition of Great Arteries*** - The combination of **central cyanosis**, **congestive heart failure** in an infant, and a chest X-ray showing **cardiomegaly** with an **'egg on a string' appearance** is highly characteristic of Transposition of Great Arteries (TGA). - The **'egg on a string' appearance** specifically refers to the narrow superior mediastinum (narrow vascular pedicle due to the anteroposterior relationship of the great arteries) and an enlarged, ovoid cardiac silhouette, resembling an egg on a string. - This finding is most evident after 1-2 weeks of age when the thymus involutes. *Tetralogy of Fallot* - While it causes **cyanosis**, it typically presents with a **boot-shaped heart** on chest X-ray due to **right ventricular hypertrophy** and an upturned apex. - Patients typically experience spontaneous episodes of **cyanotic spells** ("tet spells") and often have a prominent systolic murmur due to pulmonary stenosis. - The heart size is usually normal or only mildly enlarged initially. *Ventricular Septal Defect* - This is an **acyanotic heart defect** (unless Eisenmenger syndrome develops later) and would not explain the prominent central cyanosis at 2 months of age. - A large VSD can cause congestive heart failure and cardiomegaly with increased pulmonary vascular markings, but the chest X-ray would not show the classic **'egg on a string' silhouette**. *Total Anomalous Pulmonary Venous Connection* - This condition presents with **cyanosis** and can lead to congestive heart failure, but the classic chest X-ray finding is a **'snowman' or 'figure-of-8' sign** (in supracardiac TAPVC) due to the dilated superior vena cava and left brachiocephalic vein, not an 'egg on a string'. - This appearance typically develops after several weeks to months.

Q: A 5-year-old child presents with fever, fatigue, and left ventricular dysfunction. An endomyocardial biopsy shows extensive lymphocytic infiltration. What is the most likely diagnosis?

Lymphocytic myocarditis. ***Lymphocytic myocarditis*** - The combination of **fever**, **fatigue**, **left ventricular dysfunction**, and **extensive lymphocytic infiltration** on endomyocardial biopsy is highly characteristic of lymphocytic myocarditis. - This condition is often **viral in origin** and can lead to dilated cardiomyopathy and heart failure in children. *Acute rheumatic fever* - While it can cause **carditis**, its characteristic lesion on biopsy is the **Aschoff body**, not extensive lymphocytic infiltration. - Diagnosis typically involves meeting **Jones criteria**, including evidence of recent streptococcal infection. *Chagas disease* - Caused by **Trypanosoma cruzi**, it presents with distinctive parasitic inclusions along with inflammation on biopsy, predominantly in endemic regions. - It usually has a **prolonged chronic phase** with cardiomyopathy, which is less common in this acute presentation in a young child. *Pyogenic myocarditis* - Characterized by **neutrophilic predominance** and potentially abscess formation in the myocardium due to bacterial infection. - The biopsy demonstrating **lymphocytic infiltration** explicitly rules out a pyogenic cause.

Q: A 9-year-old child presents with shortness of breath, fatigue, and a blowing systolic murmur best heard at the right upper sternal border. What is the most likely diagnosis?

Aortic stenosis. ***Aortic stenosis*** - A **blowing systolic murmur** heard best at the **right upper sternal border** is characteristic of aortic stenosis, often radiating to the neck. - In a child, symptoms like **shortness of breath** and **fatigue** suggest significant outflow obstruction, which can occur with congenital aortic valve abnormalities. *Mitral valve prolapse* - This typically presents with a **mid-systolic click** followed by a **late systolic murmur**, best heard at the apex. - While it can cause fatigue, a **blowing systolic murmur** at the right upper sternal border is not typical. *Tricuspid regurgitation* - Presents with a **holosystolic murmur** best heard at the **left lower sternal border**, which intensifies with inspiration (Carvallo's sign). - Symptoms like fatigue and shortness of breath are usually associated with right-sided heart failure. *Pulmonary stenosis* - Characterized by a **systolic ejection murmur** heard best at the **left upper sternal border**, often with a thrill and a prominent ejection click. - The murmur's location and radiation pattern differ from the right upper sternal border presentation of aortic stenosis.

Question 1

A child presents with bluish discoloration of the skin and mucous membranes associated with crying or agitation. What is the most likely diagnosis?

Accepted Answer

Cyanotic breath-holding spells

Answer

Acrocyanosis

Answer

Congenital heart disease

Answer

Methemoglobinemia

Question 2

A 6-year-old child presents with signs of congestive heart failure. An echocardiogram shows a complete atrioventricular septal defect. Which syndrome is most commonly associated with this congenital heart defect?

Accepted Answer

Down syndrome

Answer

Turner syndrome

Answer

Noonan syndrome

Answer

DiGeorge syndrome

Question 3

A newborn presents with cyanosis, tachypnea, and poor feeding within the first week of life. On examination, the infant appears lethargic with weak peripheral pulses and a single loud S2. Echocardiography reveals hypoplastic left heart structures with a small left ventricle, mitral stenosis, and aortic stenosis. What is the most likely diagnosis?

Accepted Answer

Hypoplastic Left Heart Syndrome

Answer

Total Anomalous Pulmonary Venous Return

Answer

Ebstein's Anomaly

Answer

Tetralogy of Fallot

Question 4

In a child with suspected rheumatic fever, which finding is considered a major criterion according to the modified Jones criteria?

Accepted Answer

Erythema marginatum

Answer

Arthralgia

Answer

Increased ESR

Answer

Fever

Question 5

A 3-year-old child presents with frequent upper respiratory infections, and a continuous murmur is noted on examination. What is the most probable diagnosis?

Accepted Answer

Patent ductus arteriosus

Answer

Atrial septal defect

Answer

Ventricular septal defect

Answer

Pulmonary stenosis

Question 6

A newborn exhibits cyanosis, tachypnea, and a single second heart sound with no murmur. Which condition is most consistent with this presentation?

Accepted Answer

Transposition of the great arteries

Answer

Total anomalous pulmonary venous return

Answer

Atrial septal defect

Answer

Tetralogy of Fallot

Question 7

A 3-year-old girl presents with a high fever, rash, conjunctival injection, and strawberry tongue. Laboratory results reveal elevated inflammatory markers. What is the most likely diagnosis?

Accepted Answer

Kawasaki disease

Answer

Scarlet fever

Answer

Measles

Answer

Rubella

Question 8

A 2-month-old baby presents with central cyanosis and congestive heart failure. A chest X-ray reveals cardiomegaly with an 'egg on a string' appearance. What is the most likely diagnosis?

Accepted Answer

Transposition of Great Arteries

Answer

Tetralogy of Fallot

Answer

Ventricular Septal Defect

Answer

Total Anomalous Pulmonary Venous Connection

Question 9

A 5-year-old child presents with fever, fatigue, and left ventricular dysfunction. An endomyocardial biopsy shows extensive lymphocytic infiltration. What is the most likely diagnosis?

Accepted Answer

Lymphocytic myocarditis

Answer

Acute rheumatic fever

Answer

Chagas disease

Answer

Pyogenic myocarditis

Question 10

A 9-year-old child presents with shortness of breath, fatigue, and a blowing systolic murmur best heard at the right upper sternal border. What is the most likely diagnosis?

Accepted Answer

Aortic stenosis

Answer

Mitral valve prolapse

Answer

Tricuspid regurgitation

Answer

Pulmonary stenosis

Cardiology — MCQs

Cardiology — MCQs

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