Download Congenital Heart Disease

Congenital Heart Disease
J.B. Handler, M.D.
Physician Assistant Program
University of New England
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Abbreviations
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ASD- atrial septal defect
VSD- ventricular septal defect
PDA- patent ductus arteriosus
PS- pulmonic stenosis
HF- heart failure; aka CHFcongestive heart failure
SAP- systolic arterial pressure
RV- right ventricle
LV- left ventricle
PA- pulmonary artery
PAH- pulmonary arterial
hypertension
LVSP- left ventricular systolic
pressure
PFO- patent foramen ovale
LAE- left atrial enlargement
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PVOD- pulmonary vascular
obstructive/occlusive disease
PuVR- pulmonary vascular
resistance
SVR- systemic vascular resistance
(same as TPR, PVR)
CO- cardiac output
PAPVC- partial anomolous
pulmonary venous connection
Sx- symptoms
Qp/Qs- pulmonary blood
flow/systemic blood flow
LLSB- lower left sternal border
RVSP- right ventricular systolic
pressure
PFO- patent foramen ovale
MCA- middle cerebral artery
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Incidence and Etiology
8 per thousand births- one third with critical
disease.
 Majority (>80% survive to adulthood)
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Incidence -Specific Defects
VSD - 28%
 Pulmonic Stenosis - 9.5%
 Tetralogy of Fallot- 8-10% (complex ConHD)
 PDA - 8.7%
 ASD - 6.7%
 Coarctation of the Aorta - 4.4%
 Aortic Stenosis - 4.4%
 Congenital Coronary Anomalies - 1.2%
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Complications-CHD
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HF (aka CHF): May be early in life depending on the
defect and it’s severity. HF as adult with milder forms of
congenital heart disease if not corrected.
Cyanosis: Common with defects that result in RL
shunting of blood. Also occurs in presence of severe
hypoxemia from other causes (e.g severe HF).
– Clubbing of fingers occurs when cyanosis is long standing.
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Hypoxemia from HF responds to O2; hypoxemia from
RL shunting does not.
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Clubbing of Fingers
Images.google.com
Complications of CHD
Polycythemia: Hct >60 common with RL
shunting and associated chronic hypoxemia.
 Paradoxical Emboli: Venous thrombus ends up in
systemic circulation. See below.
 Stroke:
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– Polycythemia from R-L shunting can lead to direct
intracranial thrombosis.
– Paradoxical embolus as noted.
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Retardation of growth
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Additional Complications-CHD
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Pulmonary Arterial Hypertension (PAH)-Direct
transmission of SAP to RV or PA via a large
communication (e.g. VSD, PDA).
Pulmonary Vascular Obstructive Disease
(PVOD)-Destruction of pulmonary vascular
(arteriolar) bed in presence of continuous
pressure overload (much less common with
volume overload alone); results in marked
increase in PuVR and further elevation of PAP.
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Ventricular Septal Defect
An opening in that part of the ventricular septum
that separates the two ventricles.
 80% involve the thin membranous septum.
 20% involve the muscular septum.
 Isolated vs complex lesions
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– Assoc. conditions: Coarct. of the Aorta, ASD, PDA,
sub-aortic stenosis
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VSD
Images.google.com
Abnormal Physiology (VSD)
Small “restrictive” VSD: large resistance
to flow through small hole; normal RVP
and PAP; small L to R shunt; well
tolerated.
 Mod/large VSD’s allow varying
transmission of LVP into the RVPA.
PAH common and PVOD develops over
time. Large defects result in LV dilation
and failure.
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Clinical Manifestations (VSD)
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History: Varies depending on size of defect.
– Small VSD- no symptoms; murmur appears within
36 hrs of birth; intensity may change with age.
– Larger defects- HF early in life; surgical repair
indicated.
Small defect- Possible systolic thrill at LLSB; nl
S2; harsh holosystolic murmur along LSB.
 Large defect: signs and symptoms of heart failure.
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Investigative Findings (VSD)
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CxR: variable findings reflect severity of
shunting. When severe, cardiomegaly, enlarged
PA, HF.
ECG: variable findings depending on severity and
duration.
Echo-Doppler - diagnostic; identifies the size and
location of the defect and presence of shunting;
RV and PA pressures can be estimated .
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Natural History (VSD)
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Majority of VSDs are small; 24% close
spontaneously by 18 mos, 50% by 4 yrs, more by
10 yrs. Larger defects may become smaller but do
not close.
HF occurs in 80% of infants with large VSD. Risk
of PVOD is high in moderate to large defects.
Risk of endocarditis if defect remains open
(regardless of size). But…. endocarditis
prophylaxis with antibiotics no longer indicated;
risk of antibiotics outweighs benefits.
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Management (VSD)
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Medical: with small VSD need regular follow up;
periodic echo-doppler study will confirm closure.
Moderate and large VSD: treat HF as in adults;
surgical repair once HF improved.
– Timing of surgery dependent on severity of shunt, LV
function and PAP; closure in early childhood years
when PAP remains elevated.
– With most VSD’s primary closure or a patch can be
placed surgically with <1% mortality; normal life
expectancy if done early in life, before developing
PVOD. Catheter based techniques for closure are
evolvingpromising.
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VSD: Long Term Complications
If PAH continues over time  progressive,
irreversible PVOD develops and surgery carries
high mortality, with little if any benefit.
 In presence of significant PVOD: PuVR and PAP
rise dramatically. This can lead to shunt
reversalR to L shunting hypoxemia and Rt
sided heart failure (Eisenmenger’s
physiology/complex).
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Case 1
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A 31 y/o professional football player returns from Hawaii
(long plane flight) following the Pro Bowl (2004). On
returning home he has sudden onset of numbness and
weakness in his left arm (LA) and leg (LL) along with a
small visual field defect.
PE: Healthy man, anxious. Neuro: sensation and
strength in LA>LL; reflexes on left side. Legs: bruising
of rt calf and thigh.
MRI: rt hemispheric stroke (MCA territory)
Venous ultrasound: Inconclusive; ? thrombus in RLE
What is going on here?
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Atrial Septal Defect
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A through and through communication between the atria
at the septal level.
Pathology: Large enough defect to allow free
communication between the atria.
Most common form (previously undetected) of CHD in
adults; female to male ratio is 2:1.
Atrial septum formed by fusion* of 2 overlapping planes
of tissue during fetal development. Most ASD’s occur in
mid septum due to lack of tissue for overlap.
*Lack of fusion occurs in up to 25% of adults leaving a “patent foramen ovale”
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a potential space/opening between the two atria.
Patent Foramen Ovale
ASD
Images.google.com
Anatomic Types of ASD
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Ostium secundum -defect in mid septum at the
fossa ovalis (80%) from incomplete development.
– Associated partial anomalous pulmonary venous
connection is not uncommon; MVP present in some.
Ostium primum- defect in lower atrial septum;
usually associated with additional defects.
 Sinus venosus defect (6%) - defect high in the
atrial septum.
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Conditions Common to all ASDs
RA, RV and PA enlarge - volume overload
 Pulmonary HTN usually occurs late (3rd or 4th
decade) if lesion goes undetected up to that time
in life; result of chronic volume overload x years.
 PVOD uncommon
 Why left to right shunting?
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Abnormal Physiology (ASD)
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L to R shunting at atrial level due to:
Rt atrium more distensible than left
RV more compliant than LV
PuVR <SVR
Hemodynamic burden: RV volume overload and
increased pulmonary blood flow; well tolerated for
many years.
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Clinical Presentation (ASD)
Majority of children are asymptomatic
 Symptoms when present include fatigue, dyspnea,
decreased stamina and usually begin in early 20’s.
 Most adults become increasingly symptomatic by
3rd or 4th decade: fatigue, dyspnea and atrial
arrhythmia’s (Afib).
 “Paradoxical emboli” can result in stroke: Tedi
Bruschi, NE Patriots. Venous embolusRA
through PFO* LALVRt carotidMCA.
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*Patent foramen ovale: incomplete fusion of atrial septum (tiny defect)24allows
clot to pass from RA to LA
Physical Exam (ASD)
Hyperdynamic RV (lift): RV volume increase
leads to contraction via Starling mechanism.
 S1 accentuated at LLSB
 S2 widely split through inspiration/expiration: RV
ejection is delayed from volume overload.
 Grade II-III midsystolic creshendodecreshendo mumur, at upper LSB reflects
increased blood flow across pulmonic valve.
Present during childhood.
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Investigative Findings
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ECG: rsR’ pattern in Rt precordial leads with
mildly widened QRS (incomplete RBBB);
arrhythmias common in adults-Afib, Aflutter.
Echo-Doppler: RV volume overload; enlarged
RV, RA; 2D echo and doppler identify the defect
and semi quantitate the shunt.
Cardiac cath: Measurement of RV/PA pressures;
quantification of shunting; identification of
anomalous pulmonary veins if present. Closure of
ASD often performed percutaneously using
catheters/devices.
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Natural History and Prognosis
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Defect often missed in childhoodlisten for
murmurs.
A systolic ejection murmur is the usual reason
for further evaluation (echocardiogram or consult).
Sx often begin in late teens and 20’s if large ASD
PA pressures start to rise in early 20’s
Incidence of Atrial Fibrillation and Flutter
increases each decade.
Heart failure (Rt sided) and premature death occur
in adults without surgery.
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Management (ASD)
Once Sx present (includes paradoxical emboli) 
surgical/catheter closure.
 If no Sx surgical/catheter closure recommended
if *Qp:Qs is > 1.5:1, or if PAH present.
 Transcatheter closure devices (double umbrella)
applicable to patients with smaller defect.
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*Qp:Qs- pulmonary to systemic blood flow
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Surgical Management (ASD)
Direct suture closure or pericardial patch.
 If present, partial anomalous pulmonary veins are
re-routed to the left atrium.
 Surgical risk is very low (<1% mortality). Closure
is highly recommended in pre-school or preadolescent years.
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Pulmonic Stenosis
Pathology: “Dome shaped” stenosis of the
PV most common form. RV develops
concentric hypertrophy and reflects degree
of obstruction at the valvular level.
 Can be associated with other congenital
defects such as VSD (see Tetralogy of
Fallot, below).
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Pulmonic Stenosis
Images.google.com
Abnormal Physiology (PS)
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PV area must be reduced by 60% or more to be
hemodynamically significant.
– Peak systolic gradient > 40mmHg - moderate PS
– Peak systolic gradient > 75mmHg -severe PS
Major hemodynamic burden is Rt ventricular
pressure overload. Expected ECG finding?
 RV failure occurs with severe obstruction,
resulting in decreased CO and related Sx and
signs.
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Clinical Manifestations (PS)
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Occurs 10% all congenital lesions; most infants
and children asymptomatic unless obstruction is
severe- DOE, fatigue.
Physical exam:
– Systolic thrill-suprasternal notch; prominent RV
impulse upper LSB.
– Early systolic click upper LSB.
– Murmur is loud (Gr 3-4), harsh, crescendodecrescendo at upper LSB radiating towards
clavical and louder with inspiration. Duration of
murmur correlates with severity of obstruction.
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Investigative Findings (PS)
CxR-usually normal
 ECG- Mild - normal; severe- RVH
 Echo/Doppler - Identifies obstruction;
estimates severity of PS.
 Cath- usually not needed to make diagnosis but
performed for treatment purposes:
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– Baloon valvuloplasty opens stenotic valve.
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Natural History/Prognosis
Mild to moderate stenosis - well tolerated;
frequent follow up and echo/doppler necessary as
progressive PS may develop over time.
 Severe stenosis - poor prognosis without
intervention; RV failure develops with premature
death in adults.
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Management of PS
Infants with severe PS - valvuloplasty.
 In children and adults timing of valvuloplasty
dependent on gradient:
No intervention for gradient < 25mm.
Valvuloplasty always indicated for gradient
>75mm.
 Ballon valvuloplasty has replaced surgery as a
first approach.
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PS: Balloon Valvuloplasty
Patent Ductus Arteriosus
Images.google.com
Patent Ductus Arteriosus (PDA)
Persistent patency of the vessel that normally
connects the pulmonary arterial system and the
aorta in the fetus.
 PDA normally closes within 2-3 days after birth.
It runs from the origin of the LPA to the lower
aortic arch just beyond the left subclavian artery.
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– Ductus often remains open in pre-term deliveries.
– Important to differentiate from post-term PDA
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Abnormal Physiology (PDA)
Small ductus- high resistance to flow; well
tolerated; small left to right shunt.
 Moderate ductus- elevated PAP, significant
shunting.
 Large ductus- Ao and PA in free
communication; equal pressures with
marked left to right shunting, pulmonary
congestion, LV dysfunction and failure,
and development of PVOD.
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Clinical Manifestations (PDA)
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History- maternal exposure to rubella; premature
deliveries.
Symptoms –variable; with large shunt, HF develops in
first weeks of life.
PE - Systolic thrill over PA in suprasternal notch and
LSB; apical and RV impulse increased.
Murmur is a continuous (through systole and diastole)
“machinery murmur” Gr IV or louder at LSB (3rd and
4th ICS) and below clavicle-peaks near S2.
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Additional Findings
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Dependent on size of ductus/degree of shunting:
– CxR- increased LA, LV, pulmonary vascularity (shunt
vascularity).
– ECG: LAE/LAA* and LVH.
– Echo-doppler - LAE, LVE and LVH; shunt may be
visualized by 2D echo/doppler.
– Cardiac MRI and CT also useful in identifying PDA
*LAA- left atrial abnormality
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Natural History/Management
Complications include endocarditis, HF, PAH,
PVOD, and sudden death.
 Ultimate goal - closure of the ductus.
In premature infants treatment with
Indomethacin is 1st line therapyconstriction of
ductus.
 Surgical or catheter closure are safe and effective
when ductus remains open.
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Coarctation of the Aorta
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8-9 % of all infants presenting with CHD.
Discreet narrowing of the distal segment of the
aortic arch, just distal to the origin of the
subclavian artery.
Coarctation causes obstruction to outflow to the
lower half of the body. Principle cardiovascular
abnormalities:
– LVH due to pressure overload
– Arterial hypertension
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Coarctation of the Aorta
Allreferhealth.com
Images.google.com
Abnormal Physiology (Coarct)
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Systolic and diastolic pressures above the
coarctation are elevated; below reduced.
– A secondary form of HTN
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Prominent collateral circulation to the lower body
develops via the internal mammary and subcostal
arteries (rib notching on CxR).
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Clinical Manifestations
50% present as infants with HF.
Concomitant VSD often present.
 In older children Sx include fatigue,
dyspnea and claudication in legs while
running.
 Hypertension in childhood is a red flag for
secondary hypertension.
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– Consider also: Renal artery stenosis
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Clinical Manifestations
PE: In older children and adults- differential
blood pressure between arms and legs; a
measured difference > 10mmHg systolic is
diagnostic.
 Majority of patients will develop marked
HTN to upper part of body -high renin HTN
due to decreased perfusion of kidneys.
 Upper body well developed; legs very thin.
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Additional Findings
CxR: LV prominent; HF-infants; notching of
inferior margins of ribs in adolesence.
 ECG: LVH.
 Echo-doppler: Suprasternal imaging may show
the coarct; LVH, LV dysfunction.
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– Cardiac MRI and CT also useful for coarctation
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Cardiac cath: Pressure differential across the
coarct with angiographic visualization and any
associated lesions defined.
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Natural Hx and Progression
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50% of infants will present with HF and respond
well to medical treatment.
Hypertension develops with age and often
persists if surgical correction is performed after
age 6. Significant coarcts, if uncorrected, result in
premature death, often by age 50.
Surgery: Direct resection/repair if possible;
adequate collaterals crucial for safe repair- if
absent, lower body paralysis can occur due to
interrupted blood flow to spinal cord during
surgery. Stenting via catheters is being
investigated/used as an option.
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Tetralogy of Fallot
8-10% of all congenital defects- complex lesion
 Biventricular origin of the Aorta
 Large VSD
 Obstruction to pulmonary blood flow
 RVH
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Tetralogy of Fallot
Movie: “Something
The Lord Made” details
the first heart surgery done
in the US for TOF.
Images.google.com
Sudden Cardiac Death in the Young
Overall incidence low: 600 cases/yr.
 Structural cardiac abnormalities in 90%.
 40% occur in children with surgically treated
CHD.
 Majority of SD in the young presents as the 1st
manifestation of cardiac disease in otherwise
healthy appearing individuals.
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Etiologies - SCD in the Young
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Myocarditis (unrecognized)
Hypertrophic Cardiomyopathy
Congenital Coronary Anomalies
Coronary Artery Disease (CAD)
Conduction system abnormalities- Brugada
syndrome, others.
Mitral Valve Prolapse- very rare
Aortic dissection or rupture: often associated with
connective tissue abnormalities (Marfan’s
syndrome), “Marfanoid” body habitus.
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SCD in Competitive Athletes
Extremely rare; 25/yr. in USA
 Hypertrophic Cardiomyopathy most common
cause in athletes <35 yrs.
 Congenital coronary anomalies
 Aortic rupture associated with Marfan’s and
other connective tissue diseases.
 CHD present in < 10%
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Screening and Prevention
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Because myocarditis is often silent, and associated
with common viruses, strenuous physical exertion
and athletic competition should be avoided in
individuals with symptomatic viral symptoms or
who are febrile.
Detailed histories must be obtained during sports
physicals- family history of sudden death; history
of chest pain, dizzyness, syncope or dyspnea;
presence of any cardiac risk factors.
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A thorough exam should include observation for
connective tissue abnormalities, body habitus,
pectus deformity, etc.
Cardiac exam should include thorough
evaluation of murmurs including provocative
maneuvers.
ECG’s and Echocardiography/Doppler should
be obtained when structural cardiac pathology
is suspected. Could make a difference between
life and death.
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