Cardiology Practice Questions

Q: A chest X-ray of a 6-year-old child with recurrent episodes of cyanosis is given below. What is the most probable diagnosis?

Tetralogy of Fallot. ***Tetralogy of Fallot*** - This condition is classically associated with the **'boot-shaped heart'** (coeur en sabot) on chest X-ray, caused by right ventricular hypertrophy and a small main pulmonary artery segment. - It is the most common **cyanotic congenital heart disease** presenting in childhood, characterized by the tetrad of **ventricular septal defect**, **pulmonary stenosis**, **overriding aorta**, and **right ventricular hypertrophy**. *Transposition of the great arteries* - Classically presents with an **'egg on a side'** appearance on chest X-ray due to the narrow mediastinum and abnormal positioning of the great vessels. - Typically presents with severe cyanosis in the **neonatal period** rather than recurrent episodes in a 6-year-old, unless surgical intervention has occurred. *Tricuspid atresia* - Chest X-ray typically shows a **decreased pulmonary vascular markings** and a **left axis deviation** on ECG, distinct from the radiographic features of TOF. - Characterized by the complete absence of the tricuspid valve, leading to a hypoplastic right ventricle and reliance on an **atrial septal defect** for survival. *Total anomalous pulmonary venous connection* - Often presents with the classic **'snowman'** or **'figure-of-eight'** sign on chest X-ray due to the supracardiac type of anomalous drainage. - Typically presents with **pulmonary venous congestion** and cardiomegaly, unlike the decreased pulmonary flow usually seen in Tetralogy of Fallot.

Q: What is the characteristic murmur of a ventricular septal defect detected incidentally in a child?

Pansystolic murmur. ***Pansystolic murmur*** - A **ventricular septal defect (VSD)** is classically associated with a harsh, loud **pansystolic (holosystolic) murmur** heard best at the left lower sternal border. - This sound is generated by the left-to-right shunting of blood across the **interventricular septum** throughout the entirety of ventricular systole. *Ejection systolic murmur* - Typically heard in conditions like **aortic stenosis** or **pulmonary stenosis**, where blood is forced through a narrowed valve during systolic ejection. - Unlike the VSD murmur, this usually exhibits a crescendo-decrescendo pattern and peaks mid-systole. *Late systolic murmur* - This finding is most characteristic of **mitral valve prolapse**, often preceded by a **mitral click**. - It does not fit the hemodynamic flow dynamics of a small-to-moderate sized VSD, which allows flow throughout the entire phase of ventricular contraction. *Mid diastolic murmur* - Often associated with conditions causing significant **mitral stenosis** or high-flow states across the mitral valve (like large ASDs). - This murmur represents flow across the atrioventricular valves during filling, not the systolic shunt across the ventricular septum.

Q: A child is evaluated for cardiomegaly and features of heart failure. Laboratory investigations show maltase deficiency. What is the most likely diagnosis?

Pompe disease. ***Pompe disease*** - Also known as **Glycogen Storage Disease Type II**, this condition is caused by a deficiency of the lysosomal enzyme **acid alpha-glucosidase (acid maltase)**, which leads to glycogen accumulation in tissues. - It is classically characterized by severe **cardiomegaly** and **hypertrophic cardiomyopathy** in infancy, often leading to early heart failure, alongside **hypotonia** and macroglossia. *McArdle disease* - This is **Glycogen Storage Disease Type V**, caused by a deficiency of **muscle phosphorylase**, which typically presents in adolescence or adulthood. - Patients characteristically suffer from **exercise intolerance**, **muscle cramps**, and **myoglobinuria** rather than cardiac involvement. *Von Gierke disease* - This is **Glycogen Storage Disease Type I**, resulting from a deficiency of **glucose-6-phosphatase**. - Clinical features are dominated by **severe fasting hypoglycemia**, **hepatomegaly**, and **lactic acidosis**, not primary cardiomyopathy. *Cori disease* - This is **Glycogen Storage Disease Type III**, caused by a deficiency of the **debranching enzyme**. - It presents primarily with **hepatomegaly**, growth retardation, and variable **myopathy**, but it generally lacks the severe hypertrophic cardiomyopathy seen in Pompe disease.

Q: A neonate presents with differential cyanosis, characterized by pink upper extremities and cyanosed lower extremities. Which of the following congenital heart diseases is most likely responsible for this clinical presentation?

Large patent ductus arteriosus (PDA). ***Large patent ductus arteriosus (PDA)*** - Differential cyanosis occurs when **deoxygenated blood** from the pulmonary artery is shunted right-to-left through a large **patent ductus arteriosus** into the descending aorta, affecting distal perfusion while leaving the pre-ductal (upper extremity) circulation supplied by the oxygenated blood from the ascending aorta. - This is typically associated with **pulmonary hypertension** or other conditions causing **reversed (right-to-left) shunt** across the ductus, leading to cyanosis strictly in the lower body. *Atrioventricular septal defect* - This condition results in central mixing of blood, typically leading to generalized (not differential) cyanosis and **congestive heart failure** symptoms. - It is classically associated with **Down syndrome** and involves defects in the atrial and ventricular septa. *Severe mitral stenosis* - Pulmonary venous hypertension and congestion are the primary findings, which lead to **pulmonary edema** and respiratory distress rather than differential cyanosis. - Cyanosis in left-sided obstructive lesions is usually late-stage or secondary to severe **pulmonary hypertension** affecting both upper and lower body circulation globally. *Peripheral vascular disease* - This condition is extremely rare in neonates and typically suggests anatomical obstructions like **coarctation of the aorta** or thromboembolic events rather than congenital cardiac defects. - Clinical presentation involving **pulm pulses** or blood pressure discrepancies in coarctation is distinct from the cyanotic manifestation of a shunted PDA.

Q: Which of the following is NOT a chest X-ray feature suggestive of Ventricular Septal Defect (VSD) in a child?

Large aortic knob. **Explanation:** Ventricular Septal Defect (VSD) is a left-to-right shunt characterized by increased pulmonary blood flow and volume overload of the left heart chambers. **1. Why "Large aortic knob" is the correct answer:** In VSD, blood shunts from the left ventricle directly into the right ventricle and then into the pulmonary circulation. Because the shunt occurs **distal** to the aorta, the aorta does not carry the excess volume. In fact, in large shunts, the systemic output may decrease, leading to a **small or inconspicuous aortic knob**. A large aortic knob is typically seen in Patent Ductus Arteriosus (PDA), where the aorta must carry the extra volume before it shunts into the pulmonary artery. **2. Analysis of incorrect options:** * **Increased splaying of the carina:** Large VSDs lead to left atrial enlargement (due to increased venous return from the lungs). An enlarged left atrium pushes the left main bronchus upward, widening the subcarinal angle. * **Cardiomegaly:** This occurs due to volume overload and subsequent hypertrophy/dilation of the left atrium and left ventricle (and eventually the right ventricle if pulmonary hypertension develops). * **Pulmonary plethora:** Increased pulmonary blood flow (left-to-right shunt) manifests on X-ray as prominent vascular markings extending to the outer third of the lung fields. **Clinical Pearls for NEET-PG:** * **VSD** is the most common congenital heart disease. * **Shunt Rule:** VSD and PDA cause **Left** atrial/ventricular enlargement; ASD causes **Right** atrial/ventricular enlargement. * **Small Aorta:** Common in VSD and ASD. * **Large Aorta:** Characteristic of PDA and Tetralogy of Fallot (compensatory). * **Eisenmenger Syndrome:** Look for "pruning" of peripheral vessels (central pulmonary artery dilation with peripheral tapering).

Q: What is the risk of congenital heart disease in a first-degree relative?

2% to 6%. **Explanation:** The incidence of Congenital Heart Disease (CHD) in the general population is approximately **0.8% to 1%** (often cited as 8 per 1,000 live births). However, the risk increases significantly when a first-degree relative (parent or sibling) is affected. **1. Why Option B is Correct:** The inheritance of most CHDs is **multifactorial**, involving a combination of multiple genetic loci and environmental triggers. For most isolated cardiac defects, the recurrence risk for a first-degree relative is typically cited between **2% to 6%**. This represents a 3-to-5-fold increase over the baseline population risk. If two first-degree relatives are affected, the risk climbs further to approximately 10-15%. **2. Analysis of Incorrect Options:** * **Option A (0.5% to 0.6%):** This is lower than the baseline incidence in the general population (0.8-1%) and therefore incorrect. * **Option C (5% to 6%):** While 6% is the upper limit of the range, 5-6% as a standalone range is too narrow and overestimates the risk for many common lesions like VSD or PDA. * **Option D (20% to 25%):** This range is characteristic of **Autosomal Recessive** inheritance patterns. While some specific syndromes (e.g., Ellis-van Creveld) follow this, it does not apply to general CHD risk. **High-Yield Clinical Pearls for NEET-PG:** * **Left-sided obstructive lesions** (e.g., Bicuspid Aortic Valve, Hypoplastic Left Heart Syndrome) have the highest recurrence risk, sometimes reaching 10-15%. * If the **mother** has CHD, the risk to the offspring is generally higher (approx. 10-12%) compared to if the father is affected (approx. 2-3%). * **Most common CHD overall:** Ventricular Septal Defect (VSD). * **Most common CHD in Down Syndrome:** Atrioventricular Septal Defect (AVSD/Endocardial Cushion Defect).

Q: Where is the innocent murmur best heard in children?

Left lower mid-sternal border. **Explanation:** The most common innocent murmur in children is the **Still’s Murmur**. It is a vibratory, musical, low-frequency systolic ejection murmur. It is characteristically heard best at the **left lower mid-sternal border (LLSB)** or the area between the LLSB and the apex. The sound is believed to originate from periodic vibrations of the chordae tendineae or the pulmonary valve leaflets during ventricular ejection. **Analysis of Options:** * **Left lower mid-sternal border (Correct):** This is the classic location for Still’s murmur, the most frequent innocent murmur in the pediatric population (typically ages 2–6 years). * **Pulmonic area (Incorrect):** While the *Innocent Pulmonary Ejection Murmur* is heard here, it is less common than Still’s murmur. Pathological murmurs like ASD or Pulmonary Stenosis are also localized here. * **Aortic area (Incorrect):** This area is typically associated with pathology such as Aortic Stenosis or Bicuspid Aortic Valve. * **Apex (Incorrect):** Murmurs at the apex in children often suggest Mitral Regurgitation (pathological). **Clinical Pearls for NEET-PG:** 1. **Features of Innocent Murmurs (The 7 S’s):** Sensitive (changes with position), Short (duration), Single (no clicks), Small (localized), Soft (low intensity), Sweet (musical), and Systolic. 2. **Positional Variation:** Still’s murmur is loudest in the **supine position** and decreases or disappears when the child sits or stands. 3. **Venous Hum:** Another common innocent murmur heard in the supraclavicular space; it is continuous and disappears when the child lies flat or when the jugular vein is compressed.

Q: Which of the following is a manifestation of 22q11 deletion syndrome?

Conotruncal abnormalities. **Explanation:** **22q11.2 Deletion Syndrome** (which encompasses DiGeorge Syndrome and Velocardiofacial Syndrome) results from a microdeletion leading to the defective development of the **3rd and 4th pharyngeal pouches**. 1. **Why Option B is Correct:** **Conotruncal cardiac abnormalities** are a hallmark of this syndrome, occurring in approximately 75% of patients. These include **Tetralogy of Fallot (most common)**, Interrupted Aortic Arch (Type B), Truncus Arteriosus, and Ventricular Septal Defects. These defects arise due to the failure of neural crest cell migration into the developing outflow tract. 2. **Why the Other Options are Incorrect:** * **A. Hypercalcemia:** Patients actually present with **Hypocalcemia**. This is due to parathyroid hypoplasia (derived from the 3rd/4th pouches), leading to low PTH levels and subsequent tetany or seizures, especially in the neonatal period. * **C. Thymic hyperplasia:** The syndrome is characterized by **Thymic hypoplasia or aplasia**, leading to T-cell deficiency and increased susceptibility to viral and fungal infections. * **D. Dysmorphogenesis of 1st/2nd pouches:** The defect specifically involves the **3rd and 4th pharyngeal pouches**. The 1st and 2nd pouches contribute to the middle ear, tonsils, and tongue, which are not the primary sites of pathology in 22q11 deletion. **High-Yield Clinical Pearls for NEET-PG:** * **CATCH-22 Mnemonic:** **C**ardiac defects, **A**bnormal facies (low-set ears, cleft palate), **T**hymic hypoplasia, **C**left palate, **H**ypocalcemia, **22**q11 deletion. * **Diagnosis:** Gold standard is **FISH** (Fluorescence In Situ Hybridization) or chromosomal microarray. * **Chest X-ray:** Look for the **absence of a thymic shadow** in a neonate.

Q: Which of the following is FALSE about Transposition of the Great Arteries (TGA)?

Aortic Stenosis (AS). **Explanation:** Transposition of the Great Arteries (TGA) is a cyanotic congenital heart disease where the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle, creating two parallel, independent circulations. **Why Aortic Stenosis (AS) is the correct answer (FALSE statement):** Aortic Stenosis is not a characteristic feature or a common association of TGA. In TGA, the primary hemodynamic issue is the transposition itself. While **Pulmonary Stenosis (PS)** is a frequent association (occurring in about 25% of cases and often protecting the lungs from over-circulation), Aortic Stenosis is not part of the typical clinical spectrum of TGA. **Analysis of Incorrect Options:** * **A. Cyanosis at birth:** This is the hallmark of TGA. It is the most common cause of "cyanosis at birth" or within the first 24 hours of life. Since the circulations are parallel, oxygenated blood does not reach the systemic circulation unless there is a shunt. * **B. Congestive Heart Failure (CHF):** CHF is common in TGA, especially when a large VSD is present. The high-pressure right ventricle must pump against systemic resistance, and increased pulmonary blood flow leads to volume overload. * **C. Ventricular Septal Defect (VSD):** Approximately 30-40% of TGA cases are associated with a VSD. A VSD actually improves mixing between the two circuits, often delaying the severity of initial cyanosis but increasing the risk of early CHF. **High-Yield Clinical Pearls for NEET-PG:** * **X-ray Finding:** "Egg-on-a-string" appearance (due to a narrow mediastinum and globular heart). * **Management:** Immediate administration of **PGE1** to keep the Ductus Arteriosus open; **Rashkind’s Procedure** (Balloon Atrial Septostomy) for emergency mixing. * **Definitive Surgery:** **Jatene Procedure** (Arterial Switch Operation), ideally performed within the first 2 weeks of life.

Q: What is the most common congenital cardiac abnormality associated with maternal rubella infection during pregnancy?

Patent ductus arteriosus. **Explanation:** Congenital Rubella Syndrome (CRS) occurs due to transplacental transmission of the rubella virus, primarily during the first trimester. The virus causes vasculitis and inhibits cell division, leading to structural malformations. **Why Patent Ductus Arteriosus (PDA) is correct:** PDA is the most characteristic and common cardiac lesion in CRS. The rubella virus interferes with the normal musculature development of the ductus arteriosus and inhibits the postnatal constriction process, preventing its physiological closure. While **Peripheral Pulmonary Artery Stenosis (PPS)** is also highly specific to rubella, PDA remains the most frequently cited "most common" abnormality in standard pediatric textbooks (like Nelson) and medical examinations. **Analysis of Incorrect Options:** * **A. Atrial septal defect (ASD):** While ASD can occur in various syndromes (like Holt-Oram), it is not the primary association for rubella. * **C. Ventricular septal defect (VSD):** VSD is the most common congenital heart disease overall in the general population, but it is not specifically linked to maternal rubella. * **D. Coarctation of the aorta:** This is most classically associated with **Turner Syndrome**, not viral infections. **NEET-PG High-Yield Pearls:** * **Gregg’s Triad of CRS:** 1. Cataracts (Salt and pepper retinopathy), 2. Sensorineural deafness (most common overall finding), 3. Cardiac defects (PDA/PPS). * **"Blueberry Muffin" Rash:** Extramedullary hematopoiesis seen in neonates with CRS. * **Timing:** The risk of fetal damage is highest (up to 85%) if the mother is infected within the first 11 weeks of gestation. * **Diagnosis:** Confirmed by Rubella-specific IgM antibodies in the newborn.

Question 1

A chest X-ray of a 6-year-old child with recurrent episodes of cyanosis is given below. What is the most probable diagnosis?

Accepted Answer

Tetralogy of Fallot

Answer

Transposition of the great arteries

Answer

Tricuspid atresia

Answer

Total anomalous pulmonary venous connection

Question 2

What is the characteristic murmur of a ventricular septal defect detected incidentally in a child?

Accepted Answer

Pansystolic murmur

Answer

Ejection systolic murmur

Answer

Late systolic murmur

Answer

Mid diastolic murmur

Question 3

A child is evaluated for cardiomegaly and features of heart failure. Laboratory investigations show maltase deficiency. What is the most likely diagnosis?

Accepted Answer

Pompe disease

Answer

McArdle disease

Answer

Von Gierke disease

Answer

Cori disease

Question 4

A neonate presents with differential cyanosis, characterized by pink upper extremities and
cyanosed lower extremities. Which of the following congenital heart diseases is most likely
responsible for this clinical presentation?

Accepted Answer

Large patent ductus arteriosus (PDA)

Answer

Atrioventricular septal defect

Answer

Severe mitral stenosis

Answer

Peripheral vascular disease

Question 5

Which of the following is NOT a chest X-ray feature suggestive of Ventricular Septal Defect (VSD) in a child?

Accepted Answer

Large aortic knob

Answer

Increased splaying of the carina

Answer

Cardiomegaly

Answer

Pulmonary plethora

Question 6

What is the risk of congenital heart disease in a first-degree relative?

Accepted Answer

2% to 6%

Answer

0.5% to 0.6%

Answer

5% to 6%

Answer

20% to 25%

Question 7

Where is the innocent murmur best heard in children?

Accepted Answer

Left lower mid-sternal border

Answer

Pulmonic area

Answer

Aortic area

Answer

Apex

Question 8

Which of the following is a manifestation of 22q11 deletion syndrome?

Accepted Answer

Conotruncal abnormalities

Answer

Hypercalcemia

Answer

Thymic hyperplasia

Answer

Dysmorphogenesis of the 1st and 2nd pharyngeal pouches

Question 9

Which of the following is FALSE about Transposition of the Great Arteries (TGA)?

Accepted Answer

Aortic Stenosis (AS)

Answer

Cyanosis at birth

Answer

Congestive Heart Failure (CHF)

Answer

Ventricular Septal Defect (VSD)

Question 10

What is the most common congenital cardiac abnormality associated with maternal rubella infection during pregnancy?

Accepted Answer

Patent ductus arteriosus

Answer

Atrial septal defect

Answer

Ventricular septal defect

Answer

Coarctation of the aorta

Cardiology — MCQs

Cardiology — MCQs

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