Identifying Congenital Heart Disease in theEmergency Department: A Case of Total AnomalousPulmonary Venous ReturnLynn Lawrence, MD,* Kathleen Lillis, MDy*

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doi:10.1016/j.cpem.2

TPediatric Emergency

School of Medicin

Hospital of Buffal

yDepartment of Ped

University of New

Sciences, Women

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Associate Professo

of Medicine and

Hospital of Buffal

(E-Mails: klillis@u

An 8-day old male infant is sent to the emergency department by his pediatrician for weightloss, pallor, and respiratory distress. On arrival, the infant was found to be in shock. Theinfant was resuscitated and an echocardiogram revealed infradiaphragmatic total anom-alous pulmonary venous return. This article will provide an overview of the prevalence,classification, clinical manifestations, diagnostic workup, and management of totalanomalous pulmonary venous return.Clin Ped Emerg Med 6:273-277 ª 2005 Elsevier Inc. All rights reserved.

KEYWORDS Congenital heart disease, Respiratory distress, Total anomalous pulmonaryvenous return

An 8-day-old male infant was brought to his pediatri-

cian’s office for a scheduled newborn visit. The babywas born via an induced vaginal delivery at z41 weeks

gestation. Both the pregnancy and delivery were uncom-

plicated, and the baby’s birth weight was 7 lb 6 oz. In the

newborn nursery, he was noted to have a cardiac

murmur, and arrangements for an outpatient cardiology

evaluation were made before discharge home at 2 days of

age. In the pediatrician’s office at 8 days of life, the

parents reported that the baby was not breast-feeding, aswell over the previous 2 days, and that he appeared pale.

His pediatrician noted the baby was cyanotic and

tachypneic. His weight was down 1 lb from his birth

weight to 6 lb 6 oz. The baby was quickly transported to

the children’s hospital by ambulance.

nt matter ª 2005 Elsevier Inc. All rights reserved.

005.09.011

Medicine, State University of New York at Buffalo,

e and Biomedical Sciences, Women and Children’s

o, Buffalo, NY.

iatrics, Division of Emergency Medicine, State

York at Buffalo, School of Medicine and Biomedical

and Children’s Hospital of Buffalo, Buffalo, NY.

d correspondence: Kathleen Lillis, MD, Clinical

r, State University of New York at Buffalo, School

Biomedical Sciences, Women and Children’s

o, 219 Bryant St., Buffalo, NY 14222.

pa.chob.edu, llawrence@upa.chob.edu)

On arrival to our emergency department (ED), the

baby was cyanotic and in significant respiratory distress,with a weak, high-pitched cry. His rectal temperature was

35.4oC, pulse 180, respirations 80, and pulse oximetry

70% on 100% oxygen (Fio2). A blood pressure could not

be obtained.

Initial physical examination revealed a cyanotic,

hypotonic neonate with a sunken anterior fontanelle. A

holosystolic murmur was appreciable. Femoral pulses

were 2m, but peripheral pulses were weak and hiscapillary refill was N5 seconds. Breath sounds were

present bilaterally but with marked intercostal retrac-

tions. His abdomen was soft, and the liver was palpable 1

cm below the costal margin.

At this point, it was readily apparent that the patient

was in shock. Cardiogenic shock secondary to congenital

heart disease was strongly suspected, given the patient’s

age and presentation, although septic and hypovolemicshock also needed to be considered. IV access was

obtained and resuscitation initiated. A 2D and Doppler

echocardiogram was ordered, and a pediatric cardiologist

was called to the ED.

Although the patient was hypovolemic, isotonic IV

fluids were given in 10 mL/kg increments because of the

likelihood of cardiogenic shock. After 10 mL/kg of

normal saline, the patient’s pulse came down to 146

273

L. Lawrence, K. Lillis274

and his capillary refill was 4 seconds, but his pulse

oximetry was still 70% on 100% Fio2, with significant

respiratory distress. Given the possibility of congenital

cardiac disease, a prostaglandin E1 (PGE1) infusion was

started at 0.1 lg/kg per minute. In the event that the

patient had a ductal-dependent lesion, the PGE1 infusion

would help maintain the patency of the ductus arteriosusand, therefore, maintain blood supply to the body, even if

the oxygen saturation was lower.

With the patient’s significant respiratory distress not

improving, respiratory arrest was felt to be imminent. He

was intubated with a 3.5-mm endotracheal tube (ETT) by

rapid sequence intubation, using midazolam 0.2 mg/kg,

fentanyl 2 lg/kg, and vecuronium 0.2 mg/kg. Immedi-

ately after intubation, the patient’s pulse oximetryimproved to 83% on 100% Fio2, and breath sounds were

equal. His perfusion was still poor despite the small

improvement in oxygenation, and another 10 mL/kg of

normal saline was given IV. His pulse decreased to 136,

and capillary refill improved to 3 seconds. At that point,

the patient became increasingly difficult to ventilate and

required increasing peak pressures. On auscultation,

there were no breath sounds on the left side. It did notappear that the ETT had moved, and the possibility of a

pneumothorax was considered. Chest x-ray (CXR) was

not immediately available, and with the patient still

unstable, a 16-gauge angiocatheter was inserted in the

second intercostal space in an attempt to decompress a

pneumothorax. No rush of air was noted, so the needle

was removed. When the CXR was taken, it was confirmed

that there was no pneumothorax present and the ETT hadmoved and was down the right mainstem bronchus.

The patient’s initial arterial blood gas before intubation

was pH 7.19; Pco2, 54; Po2, 48; bicarbonate, 20; and base

deficit, 8 (on 100% Fio2); and his white blood cell count

was 9200; hemoglobin, 12.4; and platelets, 64000. The

electrolytes were normal, but his blood urea nitrogen

was 72 and creatinine, 1.3. The initial CXR showed a

normal cardiac size with a slight increase in the pulmo-nary vasculature. Two boluses of sodium bicarbonate

(2 mEq/kg each) were given IV for his metabolic acidosis,

and a subsequent arterial blood gas had a pH of 7.31 with

a base deficit of 3. Preliminary 2D echocardiogram in the

ED revealed an obstructed, infradiaphragmatic total

anomalous pulmonary venous return (TAPVR) with a

significant right to left shunt. The PGE1 infusion was

discontinued at this point because this was not a ductal-dependent lesion. In fact, this is one of the few situations

in which a prostaglandin infusion may lead acutely to

worsening of an infant’s cardiac physiology.

The patient was admitted to the pediatric intensive

care unit with a pulse of 148, blood pressure 64/42,

rectal temperature 35.48C, and pulse oximetry of 82% on

100% Fio2. His admission diagnoses were cardiogenic

shock secondary to TAPVR, respiratory failure, andmetabolic acidosis. In the pediatric intensive care unit,

he became hypotensive and was fluid-resuscitated

with both crystalloid and colloid but also required a

dopamine infusion at 15 lg/kg per minute.

Arrangements were made for the patient to be trans-

ported by air to another facility for emergent surgery. At

the receiving hospital, the patient was taken to the

operating room that night for repair of TAPVR andligation of the patent ductus arteriosus. Because of

hemodynamic instability during surgery, the chest wall

was left open after surgery but was successfully closed the

next day. Peritoneal dialysis was started on postoperative

day (POD) 1 for acute renal failure caused by a prolonged

period of cardiogenic shock. Dopamine and epinephrine

drips were discontinued on POD 2, and he was extubated

on POD 4, although he was reintubated the next daybecause of respiratory distress. On POD 10, he was

successfully extubated and was discharged home on POD

15 on furosemide and nitroglycerin patch.

All medication was discontinued after a few weeks. At

his most recent cardiology visit, the patient was a

healthy, very active 1-year-old boy with normal growth

and development.

BackgroundTotal anomalous pulmonary venous return accounts for

1% to 3% of all cases of congenital heart disease [1]. It isan anomaly that results from failure of the common

pulmonary venous chamber to become incorporated into

the left atrium during embryogenesis; there is persistence

of communications between the pulmonary portion of the

foregut plexus and the cardinal or umbilicovitelline

system of veins, resulting in the connection of all the

pulmonary veins either to the right atrium directly or to

the systemic veins and their tributaries. There is noconnection between the pulmonary veins and the left

atrium [2]. Because all venous blood returns to the right

atrium, there is an obligatory connection between the

right and left atria; otherwise, no blood would reach the

left ventricle [2].

Other major cardiac malformations are seen in approx-

imately 30% of patients with TAPVR. These lesions

include common atrium, atrial isomerism, single ven-tricle, truncus arteriosus, and anomalies of the systemic

veins [1]. Other malformations involving the gastro-

intestinal, endocrine, and/or genitourinary systems exist

in about 25% to 30% of cases. There is no know genetic

predisposition to this lesion, but males are affected nearly

twice as often as females [3].

ClassificationIn 1957, Darling et al [4] developed a classification

system for TAPVR. Four subtypes describe the anatomicconnections of the pulmonary veins to the systemic

Identifying congenital heart disease in the ED 275

venous circulation. Type I has a supracardiac connection.

This accounts for approximately 50% of patients with

TAPVR. The pulmonary venous drainage connects to a

common pulmonary vein posterior to the left atrium.

This common pulmonary vein is connected to the

innominate vein by the left vertical vein. The common

pulmonary vein may also connect to the superior venacava or azygous system as well. Occasionally, the

pulmonary veins may separately enter the superior vena

cava or azygous or innominate veins. When this occurs,

there are frequently other major cardiac anomalies.

Type II, or cardiac connections, is divided into 2 major

subtypes. In the first subtype, the right and left common

pulmonary veins join to form a common venous sinus

posterior to the left atrium that then connects to a largecoronary sinus. In the other major cardiac subtype, the

pulmonary veins drain individually or collectively into a

sinus in the posterior right atrium.

In type III, or the infracardiac form, a common venous

chamber behind the heart connects to an inferior vein

that goes through the diaphragm in front of the

esophagus to the portal vein or the ductus venosus.

Sometimes, the anomalous descending vein passesthrough an accessory hole in the diaphragm and joins

one of the systemic venous channels, usually the inferior

vena cava.

Type IV, or mixed form, is fairly rare. The pulmonary

venous connections are divided so that 1 lung drains to

one of the systemic veins. The pulmonary veins from the

opposite side often join the coronary sinus.

There must be mixing of systemic and pulmonaryvenous blood in patients with TAPVR through an

interatrial connection. If the connection is large and the

anomalous connection is not obstructed, there is

adequate flow to the left atrium and the oxygen saturation

will be similar in both the right and left heart chambers.

Blood flow through the lungs will be high, and systemic

oxygen saturation will be only slightly decreased.

In patients with unobstructed TAPVR, the entirecardiac output goes to the right atrium. As the patient

grows, pulmonary vascular resistance increases and the

initially high pulmonary-to-systemic flow ratio decreases,

resulting in progressive cyanosis.

If the interatrial connection is small, there is restric-

tive shunting at the atrial septal defect. The diminished

flow to the left heart chambers leads to impaired

systemic cardiac output. A transcatheter balloon atrialseptostomy can increase the flow to the left heart and

subsequently improve the cardiac output until definitive

surgery is performed.

Anatomic obstruction of the anomalous connection is

common in infants and occurs at several sites. In type I

anomalies, the left vertical vein may become obstructed

as it passes through the pericardial reflection or occa-

sionally between the left pulmonary artery and the leftmain stem bronchus. In type III lesions, obstruction often

occurs when the ductus venosus closes. Occasionally, the

obstruction occurs when the vertical vein passes through

the diaphragm and is constricted during tidal ventilation.

In type IV lesions, obstruction usually occurs because of

inadequate sites of communication between the pulmo-

nary veins and the right heart [3].

As pulmonary blood flow increases after birth, pulmo-nary venous obstruction leads to pulmonary edema. This

leads to decreased lung compliance and a marked

increase in the work of breathing. Arterial desaturation

occurs, and this leads to further compromise in the

heart’s ability to meet the body’s oxygen demand.

Clinical ManifestationsPatients with pulmonary venous obstruction usuallypresent with tachypnea and cyanosis within the first

few days of life [1,3]. Feeding difficulties and signs of

heart failure develop. On auscultation, the second heart

sound may be split with an increased pulmonary

component [4].

Patients without pulmonary venous obstruction are

usually asymptomatic at birth, but some may develop

transient tachypnea. Most patients develop symptomswithin the first year of life demonstrated by tachypnea,

feeding difficulties, and frequent respiratory tract infec-

tions. Some infants will have dyspnea on exertion or

cyanosis with crying. Other infants will present with only

a heart murmur [4]. On auscultation, the first heart

sound is often followed by an ejection sound. A fixed,

widely split second heart sound with an accentuated

pulmonic component may be present. A third andsometimes a fourth heart sound can be heard [3,4]. A

soft systolic ejection murmur is usually heard along the

left sternal border, and a middiastolic murmur from flow

across the tricuspid valve commonly is heard at the lower

left sternal border [1]. Rales may also be heard over the

lung fields, and periorbital edema can be seen.

Diagnostic Workup

Chest x-rayIn patients with pulmonary venous obstruction, the heart

size is normal or only minimally enlarged with marked

evidence of pulmonary edema. A fine, reticular pattern of

haziness of the entire lungs can be seen [3,4].With the unobstructed types of TAPVR, the heart size

is enlarged with increased pulmonary flow. Pulmonary

edema is usually not seen. In patients with return to the

left innominate vein, there may be a characteristic

enlargement of the superior mediastinum, bilaterally

producing a figure-of-eight or snowman shape [4]. The

upper right cardiac border may be prominent when the

anomalous connection is to the superior vena cava, whichforms the right border of the superior mediastinum.

L. Lawrence, K. Lillis276

ElectrocardiogramAn electrocardiogram shows right axis deviation withright atrial and right ventricular hypertrophy [1,3,4].

Often, a qR pattern can be seen in the right precordial

leads [4]. If the condition persists uncorrected for years,

first-degree heart block may develop, with prolongation

of the PR interval [3].

EchocardiogramAn echocardiogram demonstrates marked enlargement of

the right ventricle. The left atrium and ventricle may be

somewhat diminutive. Doppler flow and color mapping

demonstrates the site(s) of connection of the pulmonary

vein(s) and whether obstruction is present. The diagnosis

is confirmed by identifying pulmonary venous connec-tion to the systemic veins, coronary sinus, or right atrium

rather than to the left atrium [1].

Cardiac CatheterizationCatheterization may be necessary if echocardiograpy is

inconclusive in determining the site or sites of the

pulmonary venous connections.

In patients without pulmonary hypertension, the

cardiac catheterization findings are similar to those of

atrial septal defect, except that the systemic oxygen

saturations are lower than normal. The anomalous

pulmonary venous connection is usually visualized with-out difficulty after a pulmonary artery injection of

contrast material [3].

In patients with only mild pulmonary venous obstruc-

tion or reactive pulmonary hypertension, cardiac cathe-

terization and cineangiography findings are similar to

those with obstruction, except that the pulmonary blood

flow is usually twice the systemic flow, and pulmonary

capillary wedge pressures and pulmonary vascular resist-ance are low. Cineangiocardiography reveals a greatly

dilated right ventricle, and the anomalous connection can

usually be easily visualized with pulmonary artery

injection [3].

In patients with significant pulmonary venous obstruc-

tion, severe pulmonary hypertension may develop,

causing right-to-left shunting. Right ventricular cinean-

giocardiography may show a large right-to-left ductalshunt. Visualization of the pulmonary veins and their

drainage may only be possible with injection of individ-

ual pulmonary arteries or occlusion of the ductus

arteriosus with a balloon catheter and injection through

a proximal port or separate catheter [3].

Magnetic Resonance ImagingThree-dimensional reconstruction of the pulmonary

venous anatomy with magnetic resonance imaging has

been used for evaluation of anomalous pulmonary venous

anatomy. However, the study requires special preparation

of the patient and an experienced radiologist to interpret

the imaging data. In the future, this imaging modality

may become more routine for infants with such congen-

ital cardiovascular abnormalities.

Management

Medical ManagementThere is little medical management beyond supportive

care to offer patients diagnosed with TAPVR. Prostaglan-

dins are often administered acutely in infants with

suspected congenital heart disease. Prostaglandins may

result in lower arterial oxygen saturations in an infant

with TAPVR. Opening the ductus arteriosus in an infant

with obstructed pulmonary veins and high pulmonaryvascular resistance can create a right-to-left ductal shunt,

further decreasing the pulmonary blood flow and worsen-

ing the infant’s oxygen saturations. If an infant with

suspected congenital heart disease worsens with the

addition of prostaglandins, they should be discontinued.

Prostaglandins should also be discontinued when the

diagnosis of TAPVR is confirmed. The diagnosis of

TAPVR is in itself an indication for surgery because mostpatients will not survive beyond the first year of life

without surgical correction [3]. For neonates presenting

in extremis because of obstructed TAPVR, emergent

surgery is required. Early surgical management is now

even recommended for those patients with unobstructed

TAPVR or those with only mild pulmonary hypertension.

Surgical ManagementSurgical correction of TAPVR requires the creation of a

communication between the pulmonary venous system

and the left atrium, as well as closure of both the

anomalous venous pathway and interatrial communica-tions [1,3]. In neonates and most small infants, hypo-

thermia is induced, and they are placed on cardio-

pulmonary bypass for the operation. A standard median

sternotomy incision is made on all patients, but the

surgical approach and positioning of the heart during the

repair is dependent on the type of TAPVR (ie, the specific

anatomy). Because the pulmonary veins are typically

posterior to the heart, surgical exposure can be difficult.Postoperatively, these patients can require high ventila-

tion pressures, catecholamine support, and careful fluid

management. Over the past 20 years, improved surgical

techniques have significantly decreased mortality rates

to near zero in 1 recent case series [5] and increased

long-term survival to 98% at 87 months in another

study [6].

SummaryTotal anomalous pulmonary venous return is a relativelyrare lesion, accounting for 1% to 3% of all cases of

Identifying congenital heart disease in the ED 277

congenital heart disease. Most patients develop symp-

toms within the first year of life demonstrated by

tachypnea, feeding difficulties, and frequent respiratory

tract infections. Patients with pulmonary venous obstruc-

tion may present urgently within the first few days of life

with tachypnea, cyanosis, and heart failure. Prompt

identification of congenital heart disease, medical resus-citation, and referral for surgical correction can provide

for a good outcome.

References1. Friedman WF, Silverman N. Congenital heart disease in infancy and

childhood. Heart disease: a textbook of cardiovascular medicine, 6th

ed. 2001; W.B. Saunders, Philadelphia (Pa).

2. Reardon MJ, Cooley DA, Kubrusly L, et al., Total anomalous

pulmonary venous return: report of 201 patients treated surgically.

Tex Heart Inst J 1985;12:131241.

3. Hammon JW, Bender HW. Anomalous venous connection: pulmo-

nary and systemic. In: Baue AE, Geha AS, Hammond GL, et al,

editors. Glenn’s thoracic and cardiovascular surgery, 5th ed. Norwalk

(Va): Appleton & Lange; 1991.

4. Darling RC, Rothurney WB, Craig JM. Total pulmonary venous

drainage into the right side of the heart: report of 17 autopsied cases

not associated with other major cardiovascular anomalies. Lab Invest

1957;6:44264.

5. van der Velde ME, Parness IA, Colan SD, et al., Two-dimensional

echocardiography in the pre- and postoperative management of

totally anomalous pulmonary venous connection. J Am Coll Cardiol

1991;18:1746251.

6. Bando K, Turrentine MW, Ensing GJ, et al., Surgical management of

total anomalous pulmonary venous connection: thirty-year trends.

Circulation 1996;94:II12226.