Cardiology Practice Questions

Q: What is the most common atrial septal defect in Down syndrome?

Ostium primum. ***Ostium primum*** - **Ostium primum atrial septal defects** are the most common type of atrial septal defect seen in individuals with **Down syndrome** (Trisomy 21). - This defect is typically associated with **atrioventricular septal defects (AVSDs)**, also known as **endocardial cushion defects**, which are highly prevalent in Down syndrome. *Ostium secondum* - **Ostium secundum ASDs** are the most common type of **isolated** atrial septal defect in the general population, not specifically in Down syndrome. - While they can occur in Down syndrome, they are less characteristic than ostium primum defects which constitute part of the AVSD spectrum. *Absent atrial septum* - An **absent atrial septum**, or **common atrium**, is a very rare and severe cardiac anomaly. - It is not considered the most common type of atrial septal defect in Down syndrome, although individuals with Down syndrome can have complex congenital heart defects. *Sinus venosum* - **Sinus venosum ASDs** are less common and are typically located near the superior or inferior vena cava. - They are often associated with **anomalous pulmonary venous return** but are not the predominant type of ASD in Down syndrome.

Q: Which of the following is the most common congenital cardiac malformation?

Ventricular septal defect (VSD). ***Ventricular septal defect (VSD)*** - VSDs are the **most common congenital heart defect**, accounting for approximately 25-30% of all congenital cardiac malformations. - They involve a **hole in the septum** separating the left and right ventricles, leading to a left-to-right shunt. *Persistent truncus arteriosus (PTA)* - PTA is a rare congenital heart defect where a **single arterial trunk** arises from the heart, supplying both systemic and pulmonary circulation. - Its incidence is much **lower than VSD**, representing less than 1% of congenital heart defects. *Common ventricle (CV)* - A common ventricle, also known as **single ventricle**, is a complex and rare congenital defect where only one functional ventricle is present. - It is a **severe malformation** and much less common than VSD. *Atrial septal defect (ASD)* - ASDs are congenital heart defects involving a **hole in the wall between the atria** of the heart. - While relatively common, ASDs are **less frequent than VSDs**, accounting for about 5-10% of congenital heart defects.

Q: Most common type of VSD in Tetralogy of Fallot is

Perimembranous type. ***Perimembranous type*** - The **perimembranous ventricular septal defect (VSD)** is the most common type encountered in Tetralogy of Fallot. - This defect is located adjacent to the **membranous septum**, often extending into the inlet, outlet, or muscular septum [1]. *Muscular type* - **Muscular VSDs** are located within the muscular portion of the ventricular septum [1]. - While present in some cases of Tetralogy of Fallot, they are significantly less common than perimembranous defects. *Inlet type* - **Inlet VSDs** are located posterior to the septal leaflet of the tricuspid valve, within the inlet septum [1]. - Although possible, they are not the most frequent type of VSD observed in Tetralogy of Fallot. *Outlet type* - **Outlet VSDs** are found beneath the semilunar valves, in the conal or outlet septum [1]. - While relevant to the outflow obstruction in Tetralogy of Fallot, the **perimembranous defect** is the predominant VSD morphology.

Q: Most common cardiac manifestation of Holt-Oram syndrome is?

ASD. ***ASD*** - **Atrial septal defect (ASD)** is the most frequently observed cardiac anomaly in patients with **Holt-Oram syndrome**. - This syndrome is characterized by upper limb abnormalities (especially radial ray defects) and congenital heart disease, with ASD or VSD being the most common defects, but **ASD is more prevalent overall**. *VSD* - **Ventricular septal defect (VSD)** is another common cardiac manifestation in Holt-Oram syndrome, but it occurs less frequently than ASD [1]. - While both are septal defects, **ASD is quantitatively more common** in this specific syndrome [1]. *tachycardia* - **Tachycardia**, or a fast heart rate, is a symptom or sign and not a structural cardiac manifestation itself. - While patients with **congenital heart defects** may experience arrhythmias, tachycardia is not the primary cardiac abnormality defining Holt-Oram syndrome. *PDA* - **Patent ductus arteriosus (PDA)** is a known congenital heart defect but is **not one of the most common** cardiac manifestations associated with Holt-Oram syndrome. - The characteristic defects in Holt-Oram syndrome primarily involve the **atrial and ventricular septa** [1].

Q: Most common cardiac anomaly in Turner's syndrome?

Coarctation of aorta. ***Coarctation of aorta*** - **Coarctation of the aorta** is considered the **most common clinically significant cardiac anomaly** in Turner syndrome, occurring in **10-15%** of patients - It involves narrowing of the aorta, typically **near the ductus arteriosus** (juxtaductal), leading to upper extremity hypertension and left ventricular hypertrophy - From a **clinical and examination perspective**, coarctation is emphasized as the classic cardiac association with Turner syndrome due to its diagnostic and therapeutic importance - Often found in conjunction with bicuspid aortic valve *Bicuspid aortic valve* - **Bicuspid aortic valve (BAV)** is actually the **most prevalent** cardiac abnormality in Turner syndrome, affecting **30-50%** of individuals - However, it is often **asymptomatic in childhood** and may only manifest with complications (stenosis, regurgitation, endocarditis) later in life - In **examination contexts**, coarctation is typically considered the primary answer due to its greater clinical significance and need for early intervention - BAV is frequently an incidental finding on echocardiography *Ventricular septal defect* - **Ventricular septal defects (VSDs)** are **not characteristic** of Turner syndrome - VSDs are more commonly associated with **Down syndrome** and other chromosomal abnormalities - They involve a hole between the ventricles causing a left-to-right shunt *Atrial septal defect* - **Atrial septal defects (ASDs)**, particularly **partial anomalous pulmonary venous return (PAPVR)**, can occur in Turner syndrome but are less common than coarctation - Standard secundum ASDs are not a primary association with Turner syndrome

Q: A newborn presents with central cyanosis and decreased oxygen saturation. What is the most likely category of diagnosis?

Congenital cyanotic heart defect. **Congenital cyanotic heart defect** - **Central cyanosis** and **decreased oxygen saturation** in a newborn are hallmark signs of **cyanotic congenital heart defects**, which involve right-to-left shunting of deoxygenated blood or inadequate pulmonary blood flow. - These defects lead to arterial hypoxemia, which manifests as a bluish discoloration of the skin and mucous membranes. *Acyanotic congenital heart defect* - **Acyanotic heart defects** typically involve left-to-right shunting (e.g., VSD, ASD) or obstructions (e.g., coarctation), which usually do not cause **central cyanosis** in the newborn period. - While some acyanotic defects can lead to cyanosis later in life due to pulmonary hypertension reversing the shunt (Eisenmenger syndrome), initial presentation in a newborn is not typically cyanotic. *Acquired heart disease* - **Acquired heart disease** in a newborn is rare and usually refers to conditions like myocarditis or endocarditis, which are typically infectious or inflammatory in origin, not congenital structural abnormalities. - While it can manifest with heart failure symptoms, **central cyanosis** in a newborn is far more indicative of a congenital structural anomaly affecting oxygenation. *Transposition of the Great Arteries (TGA)* - **Transposition of the Great Arteries (TGA)** is a specific type of **cyanotic congenital heart defect** where the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. - While TGA is a highly likely diagnosis given the symptoms, the question asks for the most likely *category* of diagnosis, which is the broader "congenital cyanotic heart defect" group that includes TGA.

Q: The MANDATORY diagnostic criterion for Kawasaki disease is which of the following?

Fever. **Fever** - **Fever** lasting at least five days is an **absolute prerequisite** for diagnosing Kawasaki disease. - Without this prolonged fever, other symptoms, even if present, are not sufficient for a diagnosis of Kawasaki disease. *Cervical lymphadenopathy* - While **cervical lymphadenopathy** is one of the classic diagnostic criteria for Kawasaki disease, it is not mandatory. - It is present in a significant number of cases but can be absent, especially in infants. *Bilateral conjunctivitis* - **Bilateral conjunctivitis** is a common diagnostic criterion but is not always present in every patient. - It is typically non-exudative and painless. *Polymorphous rash* - A **polymorphous rash** is a characteristic feature of Kawasaki disease but is not mandatory for diagnosis, as it can be transient or mild. - The rash can take various forms, including maculopapular, scarlatiniform, or erythema multiforme-like.

Q: A 3-year-old boy is brought by his mother because he has had a high fever for the past week. Physical examination reveals bilateral injected conjunctivae, palmar erythema, oral mucositis, cervical lymphadenopathy, and solar erythema. What is the most likely diagnosis?

Kawasaki disease. ***Kawasaki disease*** - The constellation of **prolonged fever**, **bilateral conjunctival injection**, **oral mucositis** (strawberry tongue, cracked lips), **palmar erythema**, **cervical lymphadenopathy**, and a polymorphous rash (including solar erythema) are classic diagnostic criteria for **Kawasaki disease**. - This condition is an acute **vasculitis** of childhood that can lead to serious complications like **coronary artery aneurysms** if untreated. *Erysipelas* - This is a **superficial cellulitis** characterized by a well-demarcated, raised, red, and warm rash, typically on the face or lower extremities. - It does not present with bilateral conjunctival injection, oral mucositis, or systemic features seen in the patient, beyond fever. *Scarlet fever* - Caused by **Streptococcus pyogenes**, it presents with a characteristic **sandpaper-like rash**, **strawberry tongue**, and **pharyngitis**. - While it can cause fever and a strawberry tongue, it typically does not cause conjunctivitis, striking palmar erythema, or diffuse lymphadenopathy in the pattern observed. *Meningococcemia* - This is a severe systemic infection caused by **Neisseria meningitidis**, often presenting with features of **sepsis** and a **petechial or purpuric rash**. - While it causes high fever and can be rapidly progressive, it lacks the specific mucocutaneous findings like conjunctivitis, oral mucositis, and acral erythema that are characteristic of Kawasaki disease.

Q: Which congenital heart defect is characteristically associated with differential cyanosis?

Total Anomalous Pulmonary Venous Connection (TAPVC). Detailed understanding of congenital heart defects is essential for clinical diagnosis. ***Total Anomalous Pulmonary Venous Connection (TAPVC)*** - TAPVC can occasionally present with **differential cyanosis**, especially when there is **obstruction** to the pulmonary venous return and associated systemic-to-pulmonary shunts or right-to-left shunting at the atrial level. - While less common than in patent ductus arteriosus, severe forms of TAPVC with **pulmonary hypertension** and reversed shunting can lead to disparities in oxygen saturation between upper and lower extremities. *Ebstein anomaly (EA)* - While Ebstein anomaly can cause **cyanosis** due to a **right-to-left shunt** at the atrial level through a patent foramen ovale or ASD, it typically results in **generalized cyanosis**, not differential cyanosis. - The malformation of the **tricuspid valve** leads to atrialization of the right ventricle, causing severe right heart failure and elevated right atrial pressures, but usually uniform desaturation. *Tetralogy of Fallot (TOF)* - TOF is a common cyanotic heart defect characterized by **pulmonary stenosis**, VSD, overriding aorta, and right ventricular hypertrophy, leading to **generalized cyanosis** [1]. - Cyanosis in TOF is due to the **right-to-left shunt** across the VSD, allowing deoxygenated blood to enter the systemic circulation uniformly [1]. *Ventricular Septal Defect (VSD)* - An uncomplicated VSD typically causes a **left-to-right shunt**, leading to **acyanotic congenital heart disease**. - In cases of severe **pulmonary hypertension** (Eisenmenger syndrome), the shunt can reverse to right-to-left, causing generalized cyanosis, rather than differential cyanosis.

Question 1

What is the most common atrial septal defect in Down syndrome?

Accepted Answer

Ostium primum

Answer

Ostium secondum

Answer

Absent atrial septum

Answer

Sinus venosum

Question 2

Which of the following is the most common congenital cardiac malformation?

Accepted Answer

Ventricular septal defect (VSD)

Answer

Persistent truncus arteriosus (PTA)

Answer

Common ventricle (CV)

Answer

Atrial septal defect (ASD)

Question 3

Most common type of VSD in Tetralogy of Fallot is

Accepted Answer

Perimembranous type

Answer

Muscular type

Answer

Inlet type

Answer

Outlet type

Question 4

Most common cardiac manifestation of Holt-Oram syndrome is?

Accepted Answer

ASD

Answer

VSD

Answer

tachycardia

Answer

PDA

Question 5

Most common cardiac anomaly in Turner's syndrome?

Accepted Answer

Coarctation of aorta

Answer

Ventricular septal defect

Answer

Atrial septal defect

Answer

Bicuspid aortic valve

Question 6

A newborn presents with central cyanosis and decreased oxygen saturation. What is the most likely category of diagnosis?

Accepted Answer

Congenital cyanotic heart defect

Answer

Acyanotic congenital heart defect

Answer

Acquired heart disease

Answer

Transposition of the Great Arteries (TGA)

Question 7

The MANDATORY diagnostic criterion for Kawasaki disease is which of the following?

Accepted Answer

Fever

Answer

Cervical lymphadenopathy

Answer

Bilateral conjunctivitis

Answer

Polymorphous rash

Question 8

Which of the following is a characteristic feature of Barth syndrome?

Accepted Answer

Dilated cardiomyopathy + skeletal myopathy + congenital neutropenia

Answer

Cardiac tamponade + skeletal myopathy + neutropenia

Answer

Restrictive cardiomyopathy + skeletal myopathy + neutropenia

Answer

Restrictive cardiomyopathy + skeletal myopathy + lymphopenia

Question 9

A 3-year-old boy is brought by his mother because he has had a high fever for the past week. Physical examination reveals bilateral injected conjunctivae, palmar erythema, oral mucositis, cervical lymphadenopathy, and solar erythema. What is the most likely diagnosis?

Accepted Answer

Kawasaki disease

Answer

Erysipelas

Answer

Scarlet fever

Answer

Meningococcemia

Question 10

Which congenital heart defect is characteristically associated with differential cyanosis?

Accepted Answer

Total Anomalous Pulmonary Venous Connection (TAPVC)

Answer

Ebstein anomaly (EA)

Answer

Tetralogy of Fallot (TOF)

Answer

Ventricular Septal Defect (VSD)

Cardiology — MCQs

Cardiology — MCQs

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