Congenital heart disease

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Chiefs Rounds with Rido Cha, MD Director
of Cardiac CT/MR
Utkal Patel, MD 2/22/10
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Overview

• US 1,000,000 adults with congenital heart dz
• 20,000 more patients reach adolescents yearly
• Poor transition of care from pediatric age group
  to adults
• Poor knowledge about congenital heart disease
  amongst internists

All figures from ACCSAP V unless otherwise noted
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Daniels, CJ. Congenital Heart Disease. ACCSAP V
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Adult congenital Heart Disease

• Simple

• Complex

• Native
• - ASD
• - VSD
• - PDA
• - Isolated congenital aortic/mitral
  valve dz
• - mild pulm stenosis
• Repaired
• - repaired ASD/VSD
• - Previously ligated or occluded PDA

• Cyanotic Heart Diseases
• Eisenmengers syndrome
• Single ventricle and fontan

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Case 1

• A 42-year-old woman is evaluated for recent-onset
  exertional dyspnea and occasional palpitations.
  She has been told for many years that she has a
  heart murmur.
• On examination
• - heart rhythm regular with frequent
  extrasystoles
• - blood pressure is 126/78 mm Hg in both
  upper extremities.
• - JVP is elevated with both an a wave and a v
  wave.
• - The apical impulse is unremarkable.
• -There is a parasternal impulse.
• - A grade 2/6 midsystolic murmur is noted at
  the second left intercostal space and a grade 2/6
  holosystolic murmur is noted at the apex and left
  sternal border. There is fixed splitting of the
  S2.

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• What is the most likely cause of the patients
  symptons?
• Secundum ASD
• Primum ASD
• Patent Foramen ovale
• Sinus venosus ASD

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• What is the most likely cause of the patients
  symptons?
• Secundum ASD
• Primum ASD
• Patent Foramen ovale
• Sinus venosus ASD

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Atrial SeptalDefect

• 1/1500 births
• Secundum ASD is most common Adult congenital
  heart disease

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ASD- Anatomy/Prevalence

• Secundum 75
• Primum 15
• Sinus Venosus 10
• Cor Sinus (rare)

Braunwaulds Heart Disease, 6th ed
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ASD - Clinical

• Majority repaired in childhood, but may present
  in adolescence/adulthood
• Asymptomatic
• murmur
• Abnormal EKG Secondum RAD, Primum LAD
• Symptomatic
• dyspnea/CHF
• CVA/emboli
• Atrial Fibrillation

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Auscultation in ASD
Increased flow across the pulmonary valve
produces a systolic ejection murmur and fixed
splitting of the second heart sound. Fixed
splitting of S2 may in part be due to delayed
right bundle conduction. Increased flow across
the TV produces a diastolic rumble at the mid to
lower right sternal border.

• Older pt loses pulm ejection murmur as shunt
  becomes bidirectional
• signs of pulm HTN/ CHF may predominate

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ASD Therapy

• Percutaneous Closure
• only for secundum (contra in others)
• adequate superior/inferior rim around ASD
• no R-L shunting
• Surgical Closure
• Good prognosis
• closure age lt 25, PA pressure lt40
• If gt25 or PAgt40, decreased survival due to CHF,
  stroke, and afib

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• MOST COMMON CONGENITAL HEART DISEASE

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Ventricular Septal Defect
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Natural history and Clinical features

• Depends on size of defect
• Small (restrictive defect)
• -75 close spontaneously
• - hyperdynamic precordium, holosystolic murmur
• - rarely causes any symptoms
• Moderate-large defect (unrestricted)
• Rarely closes by itself
• Present with heart failure and failur to thrive
  in first 6 weeks
• Irreversible pulmonary vascular changes 6-12
  months

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Management

• Indications for surgery
• - Uncontrolled heart failure within first 6
  months
• QpQs gt21 without elevated PVR
• Subpulmonic and membranous defects, regardless of
  size, with aortic regurgitation (to prevent
  permanent damage to aortic valve)
• Contraindications
• PA pressuregt Systemic pressures
• Intracardiac closure
• Transcatheter closure

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Case 3

• A 27-year-old man is evaluated for leg pain. The
  patient is moderately obese (BMI 33) and had
  been sedentary until recently when he joined a
  health club however, after only a few minutes on
  treadmill, he develops progressive pain in his
  both legs that resolves after a few minutes with
  rest.
• PMH hypertension and a murmur
• Medications lisinopril, hydrochlorothiazide, and
  atenolol.
• On examination - mild scoliosis.
• - blood pressure is 152/95 mm Hg
  bilaterally.
• - Carotid arteries are brisk, and the
  lungs are clear.
• - Cardiac examination 3/6 mid-peaking
  systolic murmur and 2/6 decrescendo diastolic
  murmur best heard at the left upper sternal
  border.
• - Abdominal auscultation reveals a
  continuous transmitted harsh murmur.
• - There is no tenderness, mass, or
  organomegaly.
• - Femoral pulses are diminished, and no
  pulses are palpated in the feet.

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• What is the most likely diagnosis?
• A Marfan syndrome
• B Aortic coarctation
• C Aortic regurgitation and abdominal aortic
  aneurysm
• D Takayasu's arteritis

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• What is the most likely diagnosis?
• A Marfan syndrome
• B Aortic coarctation
• C Aortic regurgitation and abdominal aortic
  aneurysm
• D Takayasu's arteritis

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Coarction of Aorta
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Natural history

• Poor prognosis if unrepaired
• - Aortic aneurysm/rupture
• - CHF
• - Premature CAD

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Coarctation of Aorta Clinical

• Most repaired, but adult presentation may be
• HTN
• murmur (continuous or systolic murmur heard in
  back or SEM/ejection click of bicuspid AV)
• weak/delayed LE pulses
• Rib notching on CXR pathognomonic

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Rib notching
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Coarctation Repair

• Surgical correction
• 1) Patch aortoplasty with removal of segment
• and end to end anastomosis or
• subclavian flap repair
• 2) bypass tube grafting around segment

Edmunds Cardiac Surgery in the Adult, Ch 47
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Coarcation Treatment

• Despite surgery, patients still have significant
  morbidity/mortality with average age 38
• Up to 70 of repaired patients still go on to
  develop HTN, pathology not well understood
• Recurrence in 8-54 of repairs, can undergo
  repeat surgery or balloon angioplasty
• Aortic Aneurysm/ruputure may occur despite
  successful repair and correction of HTN (freq
  around anastomosis site on patch repair 30 in
  one study)

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Coarctation Followup

• Every 1-2 years
• Document arm/leg BP
• Screen/treat CAD risk factors
• HTN rest, provoked by exercise or seen on
  ambulatory monitoring
• ECHO/doppler to eval recurrent
• MRI for aneurysm

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Case 4

• A 45-year-old man is evaluated for atrial
  fibrillation.
• PMH Tetralogy of Fallot, which was repaired when
  he was 3 years old. He has had no other surgery
  and has not had regular cardiovascular follow-up
  since that time.
• Physical examination BP128/68 mm Hg , HR 78
  beats per minute in atrial fibrillation.
• - Displaced apical impulse and a
  prominent parasternal impulse.
• - S1 and single S2 are noted.
• - Holosystolic and a diastolic
  murmur are noted at the lower left sternal border
  (fourth intercostal space), both of which
  increase with inspiration.
• CXR right-sided cardiac chamber enlargement and
  dilatation of the pulmonary arteries
• EKG Atrial fibrillation with right bundle branch
  block and a heart rate of 76/min.

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• What is the most likely cause for this patient's
  physical findings and symptoms?
• A Aortic valve regurgitation
• B Pulmonary valve regurgitation
• C Severe pulmonary hypertension
• D Recurrent ventricular septal defect

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Tetralogy of Fallot (TOF)

• Named by Etienne-Louis Arthur Fallot in 1888
• Approximately 10 of all complex CHD
• Single developmental error of the terminal
  portion of the spiral truncoconal septum
• Four distinct components subpulmonic stenosis,
  VSD, overriding aorta, and RV hypertrophy
• Often accompanied by other anomalies

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Natural History

• Depends on severity of RVOT obstruction
• Cyanosis and exertional dyspnea
• Tet spell profound cyanotic episode secondary
  to augmented right-to-left shunt
• Poor outcome without Sx

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Surgical Repair

• Typically preformed between 4-6 months of age
• Surgical risk lt 5
• Survival rates 85 at 30 years

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Adult Presentation

• Repaired
• RVOT obstruction
• Pulmonary or tricuspid regurgitation
• LV/RV dysfunction
• Atrial/ventricular arrhythmias
• Unrepaired
• Significant morbidity
• Consider later repair

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Case 5

• A 35-year old woman with unrepaired Ebstein's
  anomaly is evaluated in the emergency department
  for recurrent tachycardia episodes. Several
  episodes occur while she is being evaluated. She
  notes that she feels somewhat lightheaded.
• The patient's blood pressure is 110/60 mm Hg. She
  is acyanotic and afebrile. Cardiac examination
  demonstrates a brief systolic murmur along the
  lower left sternal border, which increases with
  inspiration. The jugular venous pressure is
  elevated.
• The electrocardiogram shows a short PR interval,
  an abnormal initial portion of the QRS complex,
  and right bundle branch block. The tachycardia is
  wide-complex and regular at a rate of 190/min.
• What is the most appropriate acute treatment of
  choice?
• A Adenosine
• B Procainamide
• C Digoxin
• D Direct-current
  cardioversion

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Case 5

• A 35-year old woman with unrepaired Ebstein's
  anomaly is evaluated in the emergency department
  for recurrent tachycardia episodes. Several
  episodes occur while she is being evaluated. She
  notes that she feels somewhat lightheaded.
• The patient's blood pressure is 110/60 mm Hg. She
  is acyanotic and afebrile. Cardiac examination
  demonstrates a brief systolic murmur along the
  lower left sternal border, which increases with
  inspiration. The jugular venous pressure is
  elevated.
• The electrocardiogram shows a short PR interval,
  an abnormal initial portion of the QRS complex,
  and right bundle branch block. The tachycardia is
  wide-complex and regular at a rate of 190/min.
• What is the most appropriate acute treatment of
  choice?
• A Adenosine
• B Procainamide
• C Digoxin
• D Direct-current
  cardioversion

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Ebsteins Anomaly

• Atrialization of RV, sail-like TV, TR
• 50 ASD/PFO
• 50 ECG evidence of WPW
• Age at presentation varies from
  childhood?adulthood and depends on factors such
  as severity of TR, Pulm Vascular resistance in
  newborn, and associated abnormalities such as ASD

www.ucch.org
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Massive cardiomegaly, mainly due to RAE
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Ebsteins Clinical Presentation

• Pediatric
• murmur
• Adult (unrepaired with ASD)
• atrial arrhythmias
• murmur
• cyanosis
• R?L shunt NOT due to PulmHTN but TR jet directed
  across ASD
• exercise intolerance
• Surgery in pts with significant TR/sxs

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Case 6

• A 46-year-old woman with a history of complex
  congenital heart disease and recent cyanosis is
  evaluated for fatigue and dyspnea on exertion.
  The patient has had previous palliative surgical
  intervention but remains cyanotic. She has been
  managed conservatively for many years, with
  recent regular phlebotomies.
• Physical examination demonstrates central
  cyanosis and digital clubbing. The apical impulse
  is laterally displaced. There is a parasternal
  impulse and brief systolic and diastolic murmurs
  are noted at the left sternal border. The lungs
  are clear.
• Laboratory testing demonstrates a hemoglobin of
  17.5 g/dL (175 g/L) and a hematocrit of 60. The
  platelet count is 150,000/µL (150 109/L) and
  the leukocyte count is normal. A blood smear
  shows a hypochromic, microcytic anemia. The
  electrocardiogram demonstrates right ventricular
  hypertrophy with strain, unchanged from the last
  evaluation. The chest radiograph demonstrates
  cardiomegaly primarily affecting the right side
  of the heart and reduced pulmonary vascularity.
• What is the most appropriate management of this
  patient at this point?
• A.
  Phlebotomy
• 
  B.Short-course iron therapy
• C.
  Institution of vasodilator therapy
• D.Heart
  transplant evaluation

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Case 6

• A 46-year-old woman with a history of complex
  congenital heart disease and recent cyanosis is
  evaluated for fatigue and dyspnea on exertion.
  The patient has had previous palliative surgical
  intervention but remains cyanotic. She has been
  managed conservatively for many years, with
  recent regular phlebotomies.
• Physical examination demonstrates central
  cyanosis and digital clubbing. The apical impulse
  is laterally displaced. There is a parasternal
  impulse and brief systolic and diastolic murmurs
  are noted at the left sternal border. The lungs
  are clear.
• Laboratory testing demonstrates a hemoglobin of
  17.5 g/dL (175 g/L) and a hematocrit of 60. The
  platelet count is 150,000/µL (150 109/L) and
  the leukocyte count is normal. A blood smear
  shows a hypochromic, microcytic anemia. The
  electrocardiogram demonstrates right ventricular
  hypertrophy with strain, unchanged from the last
  evaluation. The chest radiograph demonstrates
  cardiomegaly primarily affecting the right side
  of the heart and reduced pulmonary vascularity.
• What is the most appropriate management of this
  patient at this point?
• A.
  Phlebotomy
• 
  B.Short-course iron therapy
• C.
  Institution of vasodilator therapy
• D.Heart
  transplant evaluation

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Eisenmengers Syndrome

• Final common pathway for all significant L?R
  shunting in which unrestricted pulmonary blood
  flow leads to pulmonary vaso-occlusive disease
  (PVOD) R?L shunting/cyanosis devleops
• Generally need QpQs gt21

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Eisenmenger Complications

• Coagulopathy/platelet consumption
• Brain abcesses
• Cerebral microemboli
• Airway hemorrhage
• especially moving from lower?higher altitudes
  (air travel, mountains)

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Eisenmenger Management

• Sxs polycythemia ? phlebotomy
• Careful if microcytosis, strongest predictor of
  cerebrovascular events
• RULE OUT CORRECTABLE DISEASE
• Once diagnosis established, avoid aggressive
  testing as many patients die during
  cardiovascular procedures
• Diuretics prn, oxygen
• Definitive Heart Lung transplant
• Prostacyclin therapy may delay, expensive

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Case 7

• A 21-year-old, recently married woman is seen for
  evaluation prior to starting a family. She is
  from a rural community, where she has not seen a
  physician nor received regular health care. She
  has a sedentary lifestyle but has no specific
  cardiac complaints.
• On physical examination, she is thin and has
  marked clubbing and cyanosis of her fingers. Her
  blood pressure is 100/60 mm Hg. Her lungs are
  clear to auscultation. Only a soft systolic
  murmur is heard on cardiac auscultation, but the
  S2 is single and loud, and there is a right
  ventricular heave. Laboratory data are remarkable
  for a hematocrit of 63. Echocardiography shows a
  large ventricular septal defect and no pulmonic
  stenosis.
• Which is the most appropriate course of action at
  this point?
• A Strongly
  discourage pregnancy
• B Recommend
  ventricular septal defect closure
• C Repeat
  echocardiography every 3 months once she is
  pregnant
• D Begin
  afterload reduction therapy
• E Perform an
  exercise test

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Case 7

• A 21-year-old, recently married woman is seen for
  evaluation prior to starting a family. She is
  from a rural community, where she has not seen a
  physician nor received regular health care. She
  has a sedentary lifestyle but has no specific
  cardiac complaints.
• On physical examination, she is thin and has
  marked clubbing and cyanosis of her fingers. Her
  blood pressure is 100/60 mm Hg. Her lungs are
  clear to auscultation. Only a soft systolic
  murmur is heard on cardiac auscultation, but the
  S2 is single and loud, and there is a right
  ventricular heave. Laboratory data are remarkable
  for a hematocrit of 63. Echocardiography shows a
  large ventricular septal defect and no pulmonic
  stenosis.
• Which is the most appropriate course of action at
  this point?
• A Strongly
  discourage pregnancy
• B Recommend
  ventricular septal defect closure
• C Repeat
  echocardiography every 3 months once she is
  pregnant
• D Begin
  afterload reduction therapy
• E Perform an
  exercise test

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Pregnancy and Congenital heart disease
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Pregnancy

• Shunts
• generally handled pretty well unless Pulm
  vascular obstructive dz use same standards to
  decide if closure warranted as in non-preg
• L sided obstructive lesions
• AS, MS, Coarctation carry significant risk
• AS can tolerate peak gradlt50
• Coarc repaired needs MRI to eval anastomosis
  sites before pregnant, if aneurysm need repair
  before pregnant
• Physiology more impt than type of lesion
• balloon valvuloplasty if necessary (best to
  dx/fix before pregnancy)

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• In women with Eisenmenger physiology due to an
  uncorrected ventricular septal defect or
  endocardial cushion defect, pregnancy should be
  avoided because of the excessive maternal
  mortality risk