Cases in Congenital Heart Disease: 29 year old female with systolic murmur
Deepak Vivekananthan, MD

History:

A 29 year old female with history of a heart murmur since childhood presents to adult congenital heart disease clinic for recommendations regarding the safety of pregnancy.  The patient’s history is notable for neonatal cyanosis that improved with age.  The patient has otherwise been in excellent health. She remains active.  She denies chest pain, shortness of breath, paroxysmal nocturnal dyspnea, or syncope.  The patient does complain of occasional, fleeting palpitations.  Of note, the patient’s mother had taken lithium for bipolar disorder for a brief time during her pregnancy. 

Physical Examination:

• BP 128/72 P 72 (regular) 
• O2 sat 98% RA
• No jugular venous distention
• Clear lungs
• Loud, split S1; fixed wide splitting of S2
• II/VI systolic murmur heard best at the lower left sternal border
• No cyanosis, clubbing, or edema

EKG:

12 Lead EKG (see Figure 1) demonstrates normal sinus rhythm, 1 ^st degree AV block, right bundle branch block and right axis deviation.

Questions:

1. Based on the history, physical exam , and echo findings what is the most likely diagnosis?

• Tetralogy of Fallot
• Ebstein’s anomaly with secundum ASD
• Truncus Arteriosus
• Transposition of the Great Vessels

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2. The patient wishes to become pregnant.  What do you recommend?

• Pregnancy is absolutely contraindicated in patients with Ebstein’s anomaly.
• Percutaneous ASD closure should be performed prior to pregnancy
• Complete surgical repair should be performed prior to pregnancy.

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Answers:

1. Based on the history, physical exam , and echo findings what is the most likely diagnosis?

• Tetralogy of Fallot
• Ebstein’s anomaly with secundum ASD
• Truncus Arteriosus
• Transposition of the Great Vessels

Discussion:

The echocardiogram demonstrates the classic findings of Ebstein’s anomaly including apical displacement of the tricuspid valve into the right ventricle.  This results in a small right ventricle with an “atrialized” portion of the right ventricle. The echocardiogram also demonstrates a large “sail-like” anterior leaflet.   This leaflet abnormality leads to a varying degree of tricuspid regurgitation.  Of note, approximately 50% of patients with Ebstein’s anomaly have a patent foramen ovale or secundum atrial septal defect (ASD).  The findings of a fixed, widely split S2 on physical exam, right axis deviation with right bundle branch block support the presence of  a secundum ASD in this patient.  In fact, the surface echo images demonstrate a secundum ASD with left to right flow by color doppler.  Finally, maternal lithium exposure during pregnancy has been associated with Ebstein’s anomaly in the offspring.

The patient’s complaints of palpitations may suggest the presence of an accessory pathway such as found in the Wolff-Parkinson-White (WPW) syndrome. In fact, approximately 25% of patients with Ebstein’s anomaly have an accessory pathway.  If WPW is present, the accessory pathway is from a right sided pathway producing a left bundle-type electrocardiographic pattern (not present in this patient). 

The management of patients with Ebstein’s anomaly depends on the severity of clinical symptoms.  Some patients may be completely asymptomatic throughout their life.  Other patients may present with an insidious onset of dyspnea and fatigue.  The presence of an ASD or PFO can lead to paradoxical embolism as an initial presenting manifestation in adulthood.   Surgical repair should be considered when there is functional limitation, cyanosis associated with a PFO or ASD, and progressive cardiomegaly or tricuspid regurgitation.       

2. The patient wishes to become pregnant.  What do you recommend?

• Pregnancy is absolutely contraindicated in patients with Ebstein’s anomaly.
• Percutaneous ASD closure should be performed prior to pregnancy
• Complete surgical repair should be performed prior to pregnancy.

Discussion:

It is important to understand that Ebstein’s anomaly is not an absolute contraindication to pregnancy.  The patient does have a secundum ASD and this potentially could lead to problems in pregnancy such as significant right to left shunting leading to hypoxia and an increased risk of paradoxical embolism.  Therefore, percutaneous closure of the ASD is a reasonable treatment approach in this patient prior to pregnancy.  Attempts at conception should be made approximately six months after ASD closure in order to insure adequate endothelialization of the device.   Close prenatal care is mandatory in order to minimize the risks to the mother and fetus. 

1. Connolly, HM, Warnes CA. Ebstein’s anomaly: Outcome of pregnancy. JACC 1994; 23:1194.
2. Marelli, AJ and Moodie, DS. Adult Congenital Heart Disease. In: Topol, EJ, ed. Textbook of Cardiovascular Medicine. 2 ^nd ed. Philadelphia: Lippincott Williams and Wilkins, 2002: 718-719
3. Perloff, JK.  Pregnancy in women with congenital heart disease: Specific lesions. Up To Date Website, 2002 (Accessed November 22, 2002 at http://www.uptodate.com)
4. Perloff, JK. Pregnancy in women with congenital heart disease: General principles. Up To Date W ebsite, 2002 (Accessed November 22, 2002 at http://www.uptodate.com)