Age: 57 years
Gender: Female
Occupation: High school teacher
Working diagnosis: Muscular ventricular septal defect
HISTORY
The patient was evaluated for a heart murmur during pregnancy 20 years prior to presentation when she was 34 years old and diagnosed with a muscular VSD. She did well until 2 years prior to presentation (then 52 years old) when she started complaining of dyspnea on exertion. She occasionally complained of chest discomfort, palpitations, and dizziness that resolved spontaneously. These symptoms grew more noticeable over the ensuing years.
Past medical history was significant for a moderate degree of scoliosis.
Comments: One wonders why the patient has developed dyspnea at this stage. It may be that there was a component of restrictive lung disease from her scoliosis, though this would be unlikely to progress over time in the way her symptoms have. More likely, there was a change in the shunt through the VSD, secondary to aging and to a stiffer LV. This would enhance volume loading of the left heart chambers and compromise further systemic cardiac output (through a systemic “still” phenomenon), both leading to exertional dyspnea.
CURRENT SYMPTOMS
She complained of dyspnea on exertion. The patient found herself out of breath after climbing two flights of stairs. She reported neither orthopnea nor paroxysmal nocturnal dyspnea. There was no history of cough, cyanosis, or syncope. No history of smoking or alcohol consumption.
NYHA class: II
Comments: Although the patient was asymptomatic for many years, she now complains of limiting dyspnea. There are many potential causes of dyspnea in a 57-year-old, one of which is VSD. As she aged, changes in LV and RV compliance, namely increasing left ventricular end-diastolic pressures, are likely to have resulted in an increased left-to-right shunt through the defect. This in turn may have contributed to her limited exercise tolerance.
PHYSICAL EXAMINATION
BP 124/79 mm Hg, HR 72 bpm, oxygen saturation 97% on room air
Height 170 cm, weight 56.7 kg, BSA 1.64 m 2
Surgical scars: None
Neck veins: The jugular venous pressure was not elevated (0 mm above the sternal angle), and the waveform was normal.
Lungs/chest: Clear
Heart: There was a mild RV heave. First and second heart sounds were normal. There was a grade 3/6 harsh pansystolic murmur heard all across the precordium; no diastolic or ejection systolic murmurs were heard.
Abdomen: There was no hepatomegaly.
Extremities: There was no pedal edema or finger clubbing.
Comments: The harsh holosystolic murmur is consistent with the diagnosis of a restrictive VSD. The absence of a diastolic or ejection systolic murmur suggests that there was neither aortic regurgitation nor any significant pulmonary stenosis, respectively.
ELECTROCARDIOGRAM
FINDINGS
Heart rate: 76 bpm
QRS axis: −22°
QRS duration: 106 msec
Sinus rhythm, first-degree heart block, voltage criteria for LV hypertrophy. The P-wave duration may be increased, in keeping with LA overload associated with LV hypertrophy.
Comments: This ECG supports the notion that the left-to-right shunt has been large enough to cause left heart dilation. The first-degree block is not easily explained by a muscular VSD.
CHEST X-RAY
FINDINGS
Cardiothoracic ratio: Cannot be meaningfully measured
There is severe thoracolumbar scoliosis distorting the chest. There is also minimal increase in interstitial markings in the lower zones with no pleural effusion. Cardiovascular assessment is very difficult in the setting of marked scoliosis. Nevertheless, there seems to be LA enlargement (based on the horizontal appearance of the left main brochus). The pulmonary trunk and aortic arch could be seen. There was no evidence of overt heart failure.
Comments: The thoracolumbar scoliosis calls into question the relative contribution of scoliosis to the patient’s dyspnea. In her case, scoliosis had never limited her in the past, and it would seem unlikely to have progressed to be the sole cause of her limitations now.
The patient’s scoliosis also poses a significant challenge not only for interpreting a chest radiograph, but also for maneuvering catheters and profiling the defects in the catheterization laboratory.
FINDINGS
There was a suggestion of LA enlargement.
Comments: Scoliosis makes interpretation difficult, but the presence of LA enlargement is an important finding, as it suggests a more hemodynamically significant left-to-right shunt at the ventricular level.
ECHOCARDIOGRAM
OVERALL FINDINGS
By TEE, the measurements obtained were:
LVEDd (mm): 50.2
LVESd (mm): 33.9
LA (mm): 42
LVPW (mm): 9.4
Shortening fraction: 32.4%
PV (m/sec): 1.5
AV (m/sec): 1.4
VSD (m/sec): 4
Mild LV hypertrophy
Single muscular VSD with its RV opening in the area of the moderator band
FINDINGS
The echocardiogram showed normal LV function with mild LV hypertrophy, a left-to-right shunt at the midseptal level, mild LA dilatation, mild to moderate tricuspid regurgitation, and mild pulmonary hypertension.
The 2D four-chamber view by TEE showed two separate openings into the right ventricular side separated by the moderator band. Color Doppler showed left-to-right shunt through the defect. The Doppler gradient across the ventricular septum was 4 m/sec (suggesting an RV systolic pressure of 124 – 64 = 60 mm Hg).
Comments: Imaging adults with muscular VSDs can be difficult, especially in the presence of significant scoliosis. In this patient, the VSD was well seen in the longitudinal plane.
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