Report: Adult Congenital Disease
(The Case of the Hidden Chamber)
Michael H. Goldman, M.D.
Kardia-Journal of the Virginia Heart Center
with hypertrophic cardiomyopathy represent a diverse
group. Many patients may be diagnosed easily and have a
benign course; others may present particular diagnostic and
therapeutic challenges. The following case is a rare
variant of apical hypertrophic disease that amply demonstrates
40-year-old Filipino woman presented with a three-year history
of intermittent substernal chest discomfort associated with
dyspnea, marked light-headedness and diaphoresis.
Symptomatic episodes lasted five to 15 minutes, varied in
intensity and occurred at rest as well as with exertion.
The patient had been seen in the emergency room three years
prior to subsequent evaluation. At that time, no
specific abnormalities were appreciated.
patient was a petite woman, weighing 104 pounds, with a
moderate pectus deformity. her blood pressure was 180/60
mm Hg. her pulse was regular at 54 beats per
minute. The cardiac examination revealed a
prominent S4 at the apex, as well as a II/VI systolic ejection
murmur at the left sternal border and apex, radiating to the
axilla. The murmur decreased markedly with Valsalva's
maneuver. Jugulovenous pulsations were normal. The
extremities did not reveal any cyanosis, clubbing or edema.
data included a total cholesterol of 223 (LDL 163, HDL
46). Her chest X-ray demonstrated cardiomegaly (CT
ration 60 percent) as well as a pectus deformity.
prior electrocardiograms were available for review. The
1986 electrocardiogram demonstrated voltage for LVH and normal
R wave progression with upright T waves throughout the
tracing. The 1990 electrocardiogram revealed the
development of a mild intraventricular conduction defect and
new precordial T wave inversion. The 1993
electrocardiogram showed a persistent intraventricular
conduction defect and Q waves in V1 and V2, as well as deep T
inversions in the inferolateral leads.
electrocardiographic study taken at rest revealed extensive
apical akinesia as well as apical hypertrophy. The base
of the heart was not hypertrophic. There was no evidence
of abnormal systolic motion of the mitral leaflet. The
overall left ventricular ejection fraction was 40 percent.
an exercise stress test, the patient exercised without
complaint for nine minutes and achieved a heart rate of 127
beats per minute. She was limited by leg fatigue but did
not complain of any chest discomfort. her blood pressure
response was blunted with an increase in blood pressure from
108/60 to 114/68 mm Hg. There was pseudonormalization of
the T inversions during exercise. The EKG returned to
baseline at six minutes. Rare premature ventricular
contractions were present.
a right and left heart catheterization was performed.
The initial right heart pressures included a pulmonary
capillary wedge pressure of 12 mm Hg, increasing to 20 mm Hg
post angiography (V wave equaled 25 mm Hg). The PA
pressure was 35/15 mm Hg; the RV pressure was 45/10 mm Hg; the
left ventricular end diastolic pressure was 28 mm hg.
was no sign of obstruction at the valvular or subvalvular
level in the left ventricular outflow tract. Coronary
cineangiography documented a conspicuous lack of motion of the
left anterior descending, consistent with apical akinesia.
The circumflex system was normal.
1. Right anterior oblique coronary angiogram
demonstrates large right coronary artery with
prominent septal branches to the hypertrophic
2A. Spade-like chamber with apical hypertrophy
2B. Apical obliteration during systole.
2C. Repeat ventriculogram reveals a discrete
apical chamber (x)
2D. Persistent contrast within the apical chamber
several minutes after injection, consistent with
right coronary artery was extremely large and gave rise to
prominent septal branches.
1. Left ventriculography revealed a spade-like chamber
at the base of the heart. Figure 2A. The
ventricular cavity was nearly obliterated during
systole. Figure 2B. A multipurpose A2 catheter was
exchanged for the pigtail catheter and advanced well into the
left ventricular apex. Pressure readings were obtained.
catheter was flushed and aspirated through the cardiac cycle
to exclude catheter entrapment. Contrast was injected
selectively into an apical aneurysmal chamber. A
discrete apical aneurysm was connected to the base of the left
ventricle through a mid-ventricular tunnel. Figure 2C. Dye remained in the aneurysmal chamber for several
minutes after the catheter was removed but finally
cleared. Figure 2D. There was moderate mitral
insufficiency. The overall ejection fraction was 75
apex of the ventricle was hypertrophied as judged by the
distance from the outline of the chamber and the position of
the epicardial left anterior descending vessel.
Aortography was normal. The right ventricle was heavily
trabeculated, and there appeared to be encroachment
hypertrophy of the septum.
monitoring revealed two episodes of nonsustained ventricular
tachycardia associated with the patient's symptoms.
electrophysiologic study demonstrated an abnormal sinus node
conduction time and AV nodal reentry tachycardia (cycle length
450 m.sec.) with retrograde conduction via a concealed
accessory pathway in the right posterior septal area.
There was also inducible polymorphic ventricular tachycardia (cylce
lengths 240 and 203) requiring countershock.
the AV nodal re-entry tachycardia and the ventricular
tachycardia were prevented by procainamide. The patient
was started on sotalol 80 mg b.i.d. Re-study revealed no
repetitive ventricular response despite three driving rates
and three extra stimuli from RV apex and RV outflow tract,
even with Isuprel infusion.
patient was lightheaded and fatigued on sotalol 80mg b.i.d.
The dose was reduced to 40 mg b.i.d. with improvement in the
patient's bradycardia and hypotension. The patient has
remained asymptomatic, engaging in normal activities but
avoiding vigorous exertion.
exercise stress testing demonstrated preserved exercise
tolerance. Follow-up Holter monitoring did not reveal
any sustained ventricular ectopy; however, isolated
ventricular ectopic beats were present.
remarkable patient represents a rare variant of apical
hypertrophic cardiomyopathy that is relatively uncommon
outside of Japan. Approximately 100 cases were reported
in the world's literature as of 1990. Criteria include a
spade-like configuration of the left ventricular cavity, giant
negative T waves, absence of an intraventricular pressure
gradient, mild symptoms and, initially, a benign clinical
apical hypertrophy, standard transthoracic echocardiographic
examination may be inadequate. Echocardiographic
examination may miss a discrete apical chamber that may
develop as a result of infarction. Transesophageal
echocardiography is more sensitive technique; however,
it is semi-invasive. Consequently, MRI jas been utilized
to assess these patients.
precise pathophysiology of apical infarction remains
speculative. Ischemia may be caused by small vessel
disease as well as by a supply-demand imbalance associated
reported on 26 patients with apical hypertrophy who were
followed for an average of seven years. One patient with
normal coronary arteries had an apical myocardial infarction
with development of a discrete aneurysm. Interestingly,
the patient's EKG showed loss of giant T wave negativity. This
patient also was the only one to have documented
life-threatening ventricular dysrhythmias.
the largest single series, Nakamura reported 20 patients with
a diastolic paradoxic jet across the obliterated left
ventricular apex, suggesting the presence of a discrete apical
chamber. Echocardiography did not demonstrate an apical
chamber directly in 13 of these 20 patients; however, left
ventriculography revealed a small apical outspouching in all
patients. This systolic bulging of the apex was followed
by early diastolic shrinkage and persistent cavity narrowing
between the two chambers. Mid-ventricular obstruction
varied between long and very localized tunnels, and the apical
chambers were of various sizes.
with apical outpouching, or aneurysmal chambers, should be
differentiated from the "usual" patient with apical
hypertrophic disease, as were those reported by Zoghbi.
In his early report, Zoghbi described patients who were
predominantly male, had a history of hypertension, did not
demonstrate ischemia and had a benign prognosis.
with apical aneurysms and evidence of ischemia have a less
favorable prognosis. Such patients should be scrutinized
carefully to exclude life-threatening dysrhythmias. The
true incidence and clinical outcome of this rare subgroup
remains to be determined.
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