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Congenital Heart Disease

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Title: Congenital Heart Disease


1
Congenital Heart Disease
  • By Jonathan Phillips, D.O.
  • Internal Medicine Lecture Series

2
Introduction
  • Atrial septal defects (ASDs) are the most
    common congenital lesion in adults after bicuspid
    aortic valves.
  • Although ASDs are often asymptomatic until
    adulthood, potential complications of an
    undetected lesion include irreversible pulmonary
    hypertension, right ventricular failure, atrial
    arrhythmias, paradoxical embolization and
    cerebral abscess.

3
Defect Identification
  • In most patients, echocardiography provides the
    desired information related to the presence of an
    ASD, the size of the defect, and associated
    abnormalities or complications.

4
Echocardiography
  • Echocardiography is the test of choice for the
    diagnosis of ASD. Transthoracic echocardiography
    is usually definitive in ostium secundum defects,
    while transesophageal echocardiography may aid in
    the sizing of defects, the diagnosis of sinus
    venosus defects, and the assessment of associated
    congenital anomalies or other abnormalities such
    as mitral valve prolapse.

5
TEE
  • Transesophageal echocardiography (TEE) is
    superior to TTE in its ability to image the
    interatrial septum and is often used when
    definitive results are not seen with TTE and in
    patients with chest wall deformities and lung
    disease in whom transthoracic echocardiographic
    windows may be poor.

6
M-mode
  • M-mode The M-mode echocardiogram usually shows
    right ventricular enlargement in moderate and
    large ostium secundum ASDs, and paradoxical
    motion of the interventricular septum

7
TEE with contrast
8
Cardiac catheterization
  • Determination of the presence of an ASD by
    catheterization involves sampling of the oxygen
    content in the inferior vena cava, superior vena
    cava, right atrium, right ventricle, and
    pulmonary artery a "step-up" in oxygen
    saturation is indicative of a shunt.

9
ASD
  • Initial symptoms associated with an ASD may be
    mild and ignored by the patient.
  • Atrial arrhythmias, exercise intolerance,
    fatigue, dyspnea, and overt heart failure are
    common manifestations of symptomatic ASDs.

10
ASD
  • Cardiac catheterization, because it is invasive,
    is rarely indicated for diagnostic purposes in
    patients with an ASD.

11
Clinical Manifestations
  • It is estimated that most patients with an ASD
    with significant shunt flow (ie, pulmonary to
    systemic flow more than 21) will be symptomatic
    and require surgical correction by the age of 40.

12
Atrial arrhythmias
  • Atrial arrhythmias are a common manifestation of
    an ASD.
  • Patients with atrial fibrillation are at risk for
    embolic events, particularly if not appropriately
    anticoagulated

13
Stroke due to paradoxical embolization
  • Patients with ASD with a right-to-left shunt are
    at risk for stroke due to paradoxical
    embolization (stroke, transient ischemic attack,
    or peripheral emboli). Right-to-left shunting
    occurs in some patients at rest and in others
    during transient increases in right-sided
    pressure (eg, with a Valsalva maneuver or
    coughing).

14
ASD
  • In addition, right-to-left shunting can be
    persistent in the presence of pulmonary
    hypertension
  • However, some patients do not become symptomatic
    until 60 years of age or older.

15
Cyanosis
  • Cyanosis in patients with ASD is usually
    associated with Eisenmenger syndrome in which
    there is shunting of unoxygenated blood from the
    right to the left atrium.
  • In addition, transient reversal of the atrial
    pressure gradient and transient cyanosis can be
    induced by some respiratory maneuvers, such as
    forceful crying, Valsalva, and cough.

16
Physical Findings
  • The classic physical findings of an ASD are
    related to the degree and duration of the defect.
    The findings involve precordial palpation, heart
    sounds, and heart murmurs, and include the
    abnormalities associated with Eisenmenger
    syndrome.

17
Physical findings
  • An enlarged and hyperdynamic right ventricle can
    produce a right ventricular heave that is most
    pronounced along the left sternal border and in
    the subxiphoid area. It can also cause chest wall
    deformity with asymmetry and a left precordial
    bulge.

18
Heart sounds
  • The characteristic finding in ASDs with large
    left-to-right shunts and normal pulmonary artery
    pressure is wide, fixed splitting of the second
    sound (S2), in contrast to the normal variation
    in splitting during the respiratory cycle. The
    second sound should be evaluated when the patient
    is sitting or standing because splitting may be
    relatively wide but not fixed in the supine
    position.

19
Pulmonary hypertension
  • Right-to-left shunting due to pulmonary
    hypertension in the occasional patient with ASD
    may be associated with the following auscultatory
    findings
  • A right ventricular fourth heart sound
  • A midsystolic ejection click
  • A midsystolic pulmonic murmur that is softer and
    shorter because the ejected stroke volume is less
  • and atrial enlargement

20
Pulmonary HTN with ASD
  • No tricuspid flow murmur
  • Increased intensity of the pulmonic component of
    S2, but no fixed splitting
  • A pulmonic insufficiency murmur, if present, is
    high-pitched
  • A holosystolic murmur of tricuspid insufficiency
    may result from right ventricular and atrial
    enlargement

21
Electrocardiogram
  • The electrocardiogram (ECG) may be normal with an
    uncomplicated ASD and small shunt. Most affected
    individuals have normal sinus rhythm, but atrial
    arrhythmias often occur beyond the third decade
    (especially atrial fibrillation but also atrial
    flutter and supraventricular tachycardia).

22
EKG and ASD
  • P waves are typically normal with secundum ASDs.
    In comparison, sinus venosus ASDs are often
    associated with a leftward frontal plane P-wave
    axis
  • First degree AV block can occur in any type of
    ASD, but is classically present in ostium primum
    defects in association with complete right bundle
    branch block and left anterior fascicular block.

23
EKG and ASD
  • The frontal plane QRS axis often ranges from 95º
    to 135º (right axis deviation) with a clockwise
    loop.
  • The QRS complex is often slightly prolonged and
    has a characteristic rSr' or rsR' pattern

24
EKG and ASD
  • A notch on the R wave in the inferior leads (a
    pattern called "crochetage") has also been
    suggested as a sensitive and specific
    electrocardiographic sign of ASD

25
Chest X-ray
  • The chest radiograph reflects the dilatation of
    the right atrium, ventricle, and pulmonary
    arteries. Left atrial enlargement may be seen if
    there is associated mitral regurgitation. Shunt
    vascularity is characterized by enlarged main
    pulmonary arteries and pulmonary vessels, without
    redistribution of flow to the apical vessels

26
Indications for Defect Closure
  • There are two main indications for closure of an
    ASD the development of symptoms, and a high rate
    of shunt flow.
  • Symptoms Exercise intolerance, fatigue,
    dyspnea, overt heart failure, and paradoxical
    embolization are manifestations of symptomatic
    ASDs that warrant defect closure.

27
Surgical Closure
  • Technique The traditional surgical approach
    for ASD repair has been a median sternotomy,
    although a right anterolateral submammary
    subpectoral approach to produce a cosmetic
    incision has been preferred in females. However,
    there has been increased use of minimally
    invasive surgery, which has become an alternative
    to open repair or percutaneous closure in
    selected patients.

28
Postoperative management
  • There are a number of postoperative
    considerations in patients who have undergone ASD
    repair.
  • Beta blockers, if not contraindicated, should be
    given to reduce the risk of postoperative AF.

29
Management
  • Anticoagulation is often recommended for several
    months after surgery in adults undergoing ASD
    closure because of concern about postoperative
    AF.

30
Participation in Sports
  • An ASD can have a varying degree of impact on the
    right heart and on cardiac performance during
    athletic activity. As delineated by the 2005 36th
    Bethesda Conference on Eligibility
    Recommendations for Competitive Athletes with
    Cardiovascular Abnormalities, the recommendations
    for athletics in patients with an untreated ASD
    vary with the severity of the defect.

31
Sports and ASD
  • Athletes with small defects, normal right heart
    volume, and no pulmonary hypertension can
    participate in all sports.
  • Athletes with a large ASD and normal pulmonary
    artery pressure can participate in all
    competitive sports.

32
Sports and ASD
  • Athletes with an ASD and mild pulmonary
    hypertension can participate in low-intensity
    competitive sports
  • Athletes with an ASD of moderate-to-large size
    should have the defect closed surgically or by a
    percutaneous catheter.

33
Bicuspid Aortic Valve
  • The most common anomaly, more common in men.
  • Can progress to aortic insufficiency or stenosis.
  • Seen with early systolic click and associated
    with an outflow murmur.
  • Diagnosis with echo, these patients are at
    increased risk of endocarditis.
  • These patients are increased risk of aortic
    dissection and coarctation of the aorta.

34
Bicuspid Aortic valve
  • Screening by echo
  • Simultaneous palpations of the brachial and
    femoral pulses may reveal a pulse delay.

35
Acyanotic adult with VSD
  • The shunt is usually small
  • Larger defects present at childhood with CHF or
    pulmonary hypertension
  • The most common location is the perimembranous
    region near the tricuspid valve
  • A loud holosystolic murmur is typically
    associated with a small defect and normal
    pulmonary vascular resistance.
  • Closure of VSD is with systemic to pulmonary
    shunt 1.7 1.0 or left ventricular overload

36
Acyanotic adult with VSD
  • Physical exam-displaced apical impulse, mitral
    diastolic rumble, S3.
  • Echo-evidence of LVH
  • LVH-suggests pulmonary hypertension or pulmonary
    valve stenosis.

37
Eisenmenger syndrome
  • The development of Eisenmenger physiology is
    accompanied by signs of right ventricular failure
    (including elevated jugular venous pressure,
    hepatic congestion, and pedal edema), cyanosis,
    and clubbing, in addition to the auscultatory
    features of pulmonary hypertension described
    above.

38
Patient Foramen Ovale
  • In 20 of people this interatrial communication
    persists
  • Can lead to interatrial aneursym
  • Associated risk with CVA due to paradoxical
    embolization
  • Treatment with symptoms is device closure

39
Tetralogy of Fallot
  • The most form of cyanotic heart disease
  • Most adults have had repair
  • Pulmonary valve insufficiency leading to right
    dilation is common.
  • Pulmonary valve replacement is indicated when the
    QRS is greater than 180ms.

40
Transposition of the great arteries
  • Atrial switch procedure
  • Right ventricle continues to support the systemic
    circulation and is subject to failure.
  • Sick sinus syndrome and atrial arrythmias will
    need pacemaker, radiofrequency ablation or
    antiarrhythemic drugs.

41
Competency Exam
42
Question 1
  • The most common cyanotic congential heart disease
    is
  • 1. Transposition of great arteries
  • 2. Tetralogy of Fallot
  • 3. Eisenmengers syndrome
  • 4. VSD

43
Question 1
  • The most common cyanotic congential heart
    disease?
  • 1. Transposition of great arteries
  • 2. Tetralogy of Fallot
  • 3. Eisenmengers syndrome
  • 4. VSD

44
Question 2
  • The most common cause of acyanotic congential
    heart disease is
  • ASD
  • VSD
  • Bicuspid aortic valve
  • Foramen ovale

45
Question 2
  • The most common cause of acyanotic congential
    heart disease is
  • ASD
  • VSD
  • Bicuspid aortic valve
  • Foramen ovale

46
Question 3
  • Indication for closure of atrial septal defects
    is
  • Systemic to pulmonary shunt ratio greater than
    1.7 to 1.
  • Right ventricular volume overload
  • Pulmonary pressure greater than 70mm
  • All the above

47
Question 3
  • Indication for closure of atrial septal defects
    is
  • Systemic to pulmonary shunt ratio greater than
    1.7 to 1.
  • Right ventricular volume overload
  • Pulmonary pressure greater than 70mm
  • All the above

48
End of Lecture
  • Thank you for your attendance.
  • This lecture will be made available at the
    Internal Medicine Residency website
  • http//IM.Official.ws

49
Congenital Heart Disease in the Adult
  • Acyanotic
  • 1. Atrial Septal Defect
  • Patent Foramen Ovale
  • Bicuspid aortic valve
  • Ventricular septal defect
  • Valvular pulmonary stenosis
  • Coarctation of the aorta

50
Cyanotic Patient
  • 1. Eisenmengers syndrome
  • 2. Tetralogy of Fallot
  • 3. Transposition of the great arteries
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