Question:hard
What could be the cause of tall QRS complexes with coarse facial features and hepatosplenomegaly?
What could be the cause of tall QRS complexes with coarse facial features and hepatosplenomegaly?
Show Hint
Coarse facies, hepatosplenomegaly, and tall QRS in an infant point to a lysosomal glycogen storage disorder of the heart (Pompe's disease).
Updated On: Jul 8, 2026
- Glycogen Storage Disease Type II
- Marfan's Syndrome
- Romano-Ward Syndrome
- Pompe's Disease
Show Solution
The Correct Option is D
Solution and Explanation
Step 1: Work backward from the ECG finding.
Tall QRS voltage in an infant usually means the heart muscle mass is abnormally increased. One cause is infiltration of the heart muscle cells with a stored substance, which thickens the walls and boosts the electrical voltage recorded on ECG.
Step 2: Add the other two clues.
Coarse facial features and hepatosplenomegaly are the hallmark of a storage disease where an enzyme defect lets a substance, here glycogen, collect inside lysosomes of many organs, not just the heart.
Step 3: Name the enzyme defect.
The missing enzyme is acid alpha-glucosidase. Without it, lysosomes in cardiac muscle, skeletal muscle, and liver fill up with glycogen that cannot be broken down. This disease carries two names in textbooks, Pompe's disease and Glycogen Storage Disease Type II, referring to the exact same enzyme defect.
Step 4: Check the distractors.
Marfan syndrome affects connective tissue and gives tall stature and aortic problems, not organomegaly or tall QRS. Romano-Ward syndrome lengthens the QT interval and predisposes to torsades; it does not cause tall QRS or organ enlargement.
Step 5: Conclude.
The features described match $Pompe's\ disease$, the infantile form of glycogen storage disease type II.
\[ \boxed{\text{Pompe's Disease}} \]
Tall QRS voltage in an infant usually means the heart muscle mass is abnormally increased. One cause is infiltration of the heart muscle cells with a stored substance, which thickens the walls and boosts the electrical voltage recorded on ECG.
Step 2: Add the other two clues.
Coarse facial features and hepatosplenomegaly are the hallmark of a storage disease where an enzyme defect lets a substance, here glycogen, collect inside lysosomes of many organs, not just the heart.
Step 3: Name the enzyme defect.
The missing enzyme is acid alpha-glucosidase. Without it, lysosomes in cardiac muscle, skeletal muscle, and liver fill up with glycogen that cannot be broken down. This disease carries two names in textbooks, Pompe's disease and Glycogen Storage Disease Type II, referring to the exact same enzyme defect.
Step 4: Check the distractors.
Marfan syndrome affects connective tissue and gives tall stature and aortic problems, not organomegaly or tall QRS. Romano-Ward syndrome lengthens the QT interval and predisposes to torsades; it does not cause tall QRS or organ enlargement.
Step 5: Conclude.
The features described match $Pompe's\ disease$, the infantile form of glycogen storage disease type II.
\[ \boxed{\text{Pompe's Disease}} \]
Was this answer helpful?
2
