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“It is of the highest importance in the art of
detection to be able to recognize out of a
number of facts, which are incidental and
which vital. Otherwise your energy and
attention must be dissipated instead
of being concentrated“
Sherlock Holmes, in
The Regitate Puzzle
Fact: Ca++ 5.5, Mg++ 5.2
Hypocalemia, Cyanotic congenital heart disease –
could this be DiGeoge’s Syndrome??
(truncus with parathyroid
Hypoplasia)
“When a fact appears to be opposed
to a long train of deductions,
it invariably proves to be capable
of bearing some other
interpretation.”
Sherlock Holmes in
A Study in Scarlet
Summary: A middle aged, African-American woman presented
with profound hypoxemia, cor pulmonale (pulmonary
hypertension and right ventricular failure) and severe left
ventricular dysfunction, with laboratory evidence of
myocardial injury and coagulopathy.
She died suddenly with a cardiopulmonary arrest.
So, what are the key features of her
presentation, what do we know, and
what would we like to know?
The presence of severe hypoxemia that does not
correct with the administration of 100% oxygen
is diagnostic of right-to-left shunting,
either across the heart or the lungs.
History:
1). No past medical history – presenting in 5th decade;
* argues against cyanotic congenital heart disease
(Tetralogy of Fallot, Transposition of the Great Vessels)
* could use a few more details regarding childhood
activity level and the pace of her functional decline
History:
2). Presents with 2 weeks of LE edema, but no PND or
orthopnea;
* R heart failure >> L heart failure
* did this really only develop over 2 weeks? (doubtful)
* what happened 2 weeks ago to push her over the edge?
3). Pagophagia (the specific eating of ice);
* strongly suggestive of iron deficiency
* can also be cultural, particularly in AA
4). Ingestion of both Vitamin E and cod liver oil;
* raise the possibility of Vitamin E intoxication
* might at least be complicating the apparent hepatic
dysfunction
History:
5). Surgery at age 30;
* any details from that admission (ECG, HGB, etc.)?
6). No mention is made of children or pregnancies;
* often poorly tolerated by patients with Congenital HD
7). History of “heart murmur” and possible rheumatic fever;
* was murmur louder in the past than presently?
(common in initial L-R shunting with progressive PH)
* some murmurs are very distinctive and usually
precipitate a work-up: harsh murmur of a restrictive
VSD with thrill; continuous or “machinery” murmur
of a PDA; ASDs are less specific and may be harder
to hear, as would be a non-restrictive VSD, or
Ebstein’s anomaly (with ASD)
History:
7). History of “heart murmur” and possible rheumatic fever;
* “rheumatic fever raises possibility of mitral stenosis,
though such severe pulmonary hypertension with
R-L shunting would be very unusual in rheumatic MS,
unless there were other concomitant cardiac defects.
8). History of hair loss, constipation and fatigue;
* suggestive of hypothyroidism
* also consistent with iron deficiency.
Physical Exam:
1). Vital signs: pulse 106, mild tachypnea (SpO2 77%);
* tachycardia makes hypothyroidism unlikely;
* absence of respiratory distress despite marked
desaturation emphasizes chronicity of condition
2). Jugular venous distention, peripheral edema, clear lungs;
* right heart failure >> left heart failure
3). Clubbing and cyanosis;
* reflects chronic, severe hypoxemia, BUT;
* what about central cyanosis - ? blue lips;
* are upper (right and left) extremities similarly
clubbed and cyanotic compared to LE?
* these may give clues as to the site of the shunt!
Physical Exam:
4). Cardiac exam: only soft systolic ejection murmru;
* non-restrictive VSD may be quiet
* murmurs may become quiet as R-L shunt predominates;
* no mention is made of S1 (split and loud in Ebstein’s
anomaly, or S2 (widely split and fixed in ASD)
* ? thrill (VSD), RV heave (pulmonary htn)
* ? change with respiration (TR)
Laboratory Data:
1). HGB 15.3/HCT 47;
* should be much higher in patient with severe, chronic
hypoxemia and Eisenmenger’s syndrome;
* may reflect the underlying iron deficiency?
* has she undergone phlebotomy?
* MCV is high, but could reflect mixed deficiency
* What is the serum iron, and ferritin?
2). Mild elevation of LFTs, INR, slightly decreased Alb;
* probably reflects hepatic congestion and cor pulmonale
3). Very high D Dimer;
* ? presence of thrombophlebitis (DVT);
* also elevated in any systemic illness with incr. fibrin
* raises possibility of embolic events (heart, CNS)
4). Mild renal insufficiency;
* probably due to impaired renal perfusion;
Laboratory Data:
5). TSH normal;
* makes hypothyroidism unlikely, though could
have central abnormality – what’s the freeT4?;
6). Marked elevation of BNP;
* consistent with biventricular failure
7). Elevated troponin (34);
* suggests the presence of myocardial injury
* can be elevated in pulmonary embolus, though
not usually this high (and excluded by CT angio);
* not much data on chronic right heart failure
* doubt acute plaque rupture and typical CAD,
but could reflect embolus down a coronary artery
Laboratory Data:
8). Blood Gasses: 35/21/7.43 on 4l, 42/24/7.42 on 100%;
* profound hypoxemia
* modest respiratory alkalosis
* essentially normal pH – reflects effective renal
compensation, or superimposed metabolic acidosis
Laboratory Data:
8). Blood Gasses: 35/21/7.43 on 4l, 42/24/7.42 on 100%;
* profound hypoxemia
* modest respiratory alkalosis
* essentially normal pH – reflects effective renal
compensation, or superimposed metabolic acidosis
So what can cause hypoxemia of this magnitude:
Alveolar hypoxia – altitude, intrinsic pulmonary disease,
pulmonary edema with alveolar flooding
V/Q mismatch (physiological dead space) – pulmonary
hypertension, pulmonary embolus
** Right to left Shunt – intrapulmonary (pulmonary a-v
malformation), or intracardiac
Normal Heart
Atrial Septal
Defect
(Secundum)
Ventricular Septal
Defect
(Membranous)
Ebstein’s
Anomaly
Patent Ductus
Arteriosus
Aortic pulmonary Window
Eisenmenger’s
Syndrome
Other Data:
1). ECG sinus tach, RBBB, ? right axis;
* axis provides evidence for site of lesion, particularly
if ASD: right axis – secundum; left axis – primum
junctional or low atrial rhythm – sinus venousus
* make sure not hidden atrial flutter
* negative p waves in Ebstein’s, also accessory pathways
* ? ST segments with elevated troponin
2). Chest X-ray – cardiomegaly, no pulmonary edema;
* right or left ventricular/atrial enlargement?;
3). CT angiogram – pruning, no pulmonary embolus;
* pruning of pulmonary vessels typical with Eisenmenger’s;
* confirms right atrial and biventricular enlargement
* ? “low density enhancement” -- ? tumor, ? incidental
finding, ? thrombus
Other Data:
4). Echocardiogram – should be definitive test;
a). It shows:
* severe RA and RV enlargement
* severe pulmonary hypertension
These are consistent with chronic left to right shunting with
the development of Eisenmenger’s syndrome – would be
expected regardless of the site of the shunt.
* severe left ventricular hypokinesis
This would be unexpected for a shunt at the atrial level, and
argues for a shunt that also overloads the LV (VSD, PDA, aortopulmonary window). If wall motion abnormalities are segmental,
could reflect coronary emboli with subsequent MI.
Other Data:
4). Echocardiogram – should be definitive test;
a). It doesn’t show (or doesn’t say…):
* clear evidence of ASD, VSD, or Ebstein’s Anomaly
* any evidence of rheumatic mitral valve disease
* left atrial enlargement, cor-triatriatum
It might be possible to miss some lesions on a TTE, particularly
at the atrial level (especially sinus venosus defects). However
a large VSD, or Ebstein’s should be manifest, as would RHD.
If not missed, it suggests that the lesion is outside of the
heart itself, such as PDA, or aortopulmonary window.
A TEE may be more sensitive…
Other Data:
5). Cardiac Catheterization – pulmonary htn (70/40),
elevated PCW pressure (43 mmHg), low cardiac output;
* PCW seems very high, particularly with PAD only
40 mmHG. This makes transpulmonary gradient
normal? Is this measurement correct?
* was LVEDP measured as well as PCW at cath?
* what about step-up in oxygen saturation?
* was a Qp/Qs calculated?
* magnitude of both L-R and R-L shunting
should have been measured during cath
* was a coronary angiogram done to look for emboli?
* was a pulmonary angiogram or aortogram performed?
Hospital Course:
Sudden death due to cardiopulmonary arrest with PEA
* unfortunately, very common with paradoxical emboli in
in patients with Eisenmenger’s syndrome – could be
innocent air emboli from a peripheral IV, or more dramatic
thromboembolic event from a DVT.
** NEED TO USE AIR FILTERS ON ALL IV LINES AND
USE EXTRAORDINARY CARE TO PREVENT PARADOXICAL
EMBOLI DURING IV FLUSHES OR INFUSIONS.
Other considerations:
* infiltrative diseases affecting right and left
ventricles (sarcoid, hemochromatosis)
* cardiac tumors, including unusual lymphomas
* inflammatory diseases (such as lupus) causing pulmonary
hypertension, myocarditis, and pericardial effusion
But I couldn’t figure out how to get severe hypoxemia and
right to left shunting out of these disorders. So….
“It is a capital mistake to theorize before
one has data. Insensibly one begins to
twist facts to suit theories, instead of
theories to suit facts. “
Sherlock Holmes, in A Scandal
In Bohemia
“There is nothing more stimulating
than a case where everything
goes against you.”
The Hound of the Baskervilles
CYANOTIC HEART DISEASES:
Increased pulmonary circulations:
•Complete transposition of the great arteries
•Double outlet right ventricle
•Taussig-Bing syndrome
•Pulmonary arteriovenous fistula
•Total anomalous venous return
•Truncous arteriosus (type I, II and III)
•Hypoplastic left ventricular syndrome:
Aortic atresia
Hypoplastic aortic artery
Mitral valve atresia
CYANOTIC HEART DISEASES:
Normal pulmonary circulation or diminished
pulmonary circulation:
•Tetralogy of Fallot
•Tricuspid atresia
•Hypoplastic right ventricle
•Ebstein anomaly
•Pulmonic stenosis or atresia with ASD
•Single ventricle with pulmonic stenosis
•Eisenmenger syndrome
•Truncous arteriosus (type IV)
Transposition great arteries
Patent ductus arteriosus
Aortic pulmonary Window
Eisenmenger’s Syndrome