Cardiology Practice Questions

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).

Question 1

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 2

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 3

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 4

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 5

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%

Cardiology — MCQs

Cardiology — MCQs

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