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