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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 Sherlo
ck Holmes, in The Regitate Puzzle
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Fact Ca 5.5, Mg 5.2
Hypocalemia, Cyanotic congenital heart disease
could this be DiGeoges 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. Sh
erlock Holmes in A Study in Scarlet
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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?
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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
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History 2). Presents with 2 weeks of LE
edema, but no PND or orthopnea R heart
failure gtgt 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
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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 Ebsteins anomaly (with ASD)
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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.
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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 gtgt
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!
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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 Ebsteins anomaly, or S2 (widely
split and fixed in ASD) ? thrill (VSD), RV
heave (pulmonary htn) ? change with
respiration (TR)
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Laboratory Data
1). HGB 15.3/HCT 47 should be much higher
in patient with severe, chronic hypoxemia and
Eisenmengers 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
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Laboratory Data
5). TSH normal makes hypothyroidism
unlikely, though could have central
abnormality whats 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
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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
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Normal Heart
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Atrial Septal Defect (Secundum)
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Ventricular Septal Defect (Membranous)
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Ebsteins Anomaly
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Patent Ductus Arteriosus
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Aortic pulmonary Window
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Eisenmengers Syndrome
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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 Eisenmengers confirms right atrial and
biventricular enlargement ? low density
enhancement -- ? tumor, ? incidental finding, ?
thrombus
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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, aorto- pulmonary
window). If wall motion abnormalities are
segmental, could reflect coronary emboli with
subsequent MI.
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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
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• 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

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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)

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Transposition great arteries
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Patent ductus arteriosus
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Aortic pulmonary Window
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Eisenmengers Syndrome