DOI:10.2214/AJR.05.1602
AJR 2006; 187:S508-S510
© American Roentgen Ray Society
AJR Teaching File: High-Output Cardiac Failure in a Patient with a History of Hereditary Hemorrhagic Telangiectasia
Trevor Clayton1,
Kevin P. Banks1 and
Liem T. Bui-Mansfield1,2,3
1 San Antonio Uniformed Services Health Education Consortium (SAUSHEC),
Department of Radiology, Brooke Army Medical Center, 3851 Roger Brooke Dr.,
Fort Sam Houston, TX 78234-6200.
2 Department of Radiology, Wake Forest University, Winston-Salem, NC
27157-1088.
3 Department of Radiology, Uniformed Services University of the Health Sciences,
Bethesda, MD 20814.
Received September 8, 2005;
accepted after revision December 5, 2005.
Address correspondence to L. T. Bui-Mansfield
(liem.mansfield{at}gmail.com).
The opinions and assertions contained herein are those of the authors and
should not be construed as official or as representing the opinions of the
Department of the Army or the Department of Defense.
Keywords: cardiac failure • cardiac imaging • cardiopulmonary imaging • cardiovascular disease • CT • hereditary hemorrhagic telangiectasia
Case History
A 62-year-old woman with a history of hereditary hemorrhagic telangiectasia
(HHT) presents with high-output cardiac failure.
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Fig. 1A —62-year-old woman with history of hereditary hemorrhagic
telangiectasia who presents with high-output cardiac failure. Anteroposterior
chest radiograph reveals cardiomegaly and enlargement of central pulmonary
vasculature, cephalization of pulmonary blood flow, and left pleural
effusion.
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Radiologic Description
An anteroposterior chest radiograph
(Fig. 1A) reveals cardiomegaly
and enlargement of the central pulmonary vasculature, cephalization of
pulmonary blood flow, and left pleural effusion.
A single axial contrast-enhanced CT image of the chest obtained 2 years
previously (Fig. 1B) shows an
opacity in the right upper lobe that measures 10 x 9 x 15 mm.
Pulmonary vessels are seen entering and exiting the opacity, which is
suggestive of a pulmonary arteriovenous malformation.
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Fig. 1B —62-year-old woman with history of hereditary hemorrhagic
telangiectasia who presents with high-output cardiac failure. Single axial
contrast-enhanced CT image of chest obtained 2 years previously shows opacity
in right upper lobe that measures 10 x 9 x 15 mm. Pulmonary
vessels are seen entering and exiting opacity, suggestive of pulmonary
arteriovenous malformation.
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Transthoracic echocardiography, not shown, reveals a mildly to moderately
dilated right ventricle, mild tricuspid valvular regurgitation, and a
moderately to severely dilated right atrium. The left ventricle ejection
fraction is estimated to be 65-75%.
Axial images from the early arterial phase
(Fig. 1C) and late arterial
phase (Fig. 1D) of
contrast-enhanced CT of the abdomen show hepatomegaly, an enlarged inferior
vena cava, and early opacification of the hepatic veins. Subcentimeter nodules
that are too numerous to count fill the liver and show rapid enhancement,
which is consistent with telangiectasia. No findings of cirrhosis or portal
hypertension are evident.
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Fig. 1C —62-year-old woman with history of hereditary hemorrhagic
telangiectasia who presents with high-output cardiac failure. Axial images
from early (C) and late (D) arterial phases of contrast-enhanced
abdominal CT show hepatomegaly, enlarged inferior vena cava, and early
opacification of hepatic veins. Numerous subcentimeter nodules fill liver and
show rapid enhancement, consistent with telangiectasia. No findings of
cirrhosis or portal hypertension are evident.
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Fig. 1D —62-year-old woman with history of hereditary hemorrhagic
telangiectasia who presents with high-output cardiac failure. Axial images
from early (C) and late (D) arterial phases of contrast-enhanced
abdominal CT show hepatomegaly, enlarged inferior vena cava, and early
opacification of hepatic veins. Numerous subcentimeter nodules fill liver and
show rapid enhancement, consistent with telangiectasia. No findings of
cirrhosis or portal hypertension are evident.
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Differential Diagnosis
The differential diagnosis for high-output cardiac failure is hereditary
hemorrhagic telangiectasia (Osler-Weber-Rendu disease), arteriovenous fistula,
chronic anemia, Paget's disease, hyperthyroidism, thiamine deficiency
(beriberi), and polycythemia vera.
Diagnosis
The diagnosis is hereditary hemorrhagic telangiectasia.
Commentary
The differential diagnosis for high-output cardiac failure is broad. In
addition to radiographic findings and clinical history, one can use laboratory
data to help narrow the diagnosis. The patient's normal laboratory values,
including hemoglobin and hematocrit, iron studies, thiamine, and thyroid
function tests, help eliminate chronic anemia, hyperthyroidism, thiamine
deficiency, and polycythemia vera from the differential diagnosis. Without a
history of solid organ biopsy, penetrating trauma, or catheterization, an
arteriovenous fistula would be much less likely. Paget's disease would
manifest with diffuse osseous findings of blastic, lytic, or mixed lesions. A
review of images showed that chest, abdomen, and pelvic CT images obtained at
bone window settings were negative for such findings
[1].
High-output cardiac failure is defined as symptoms of cardiac failure
(dyspnea either at rest or with varying degrees of exertion, orthopnea,
paroxysmal nocturnal dyspnea, and edema, either pulmonary or peripheral) in
the presence of an abovenormal cardiac index (> 3.0 L/min/m2).
As mentioned earlier, a number of conditions may lead to a reflective increase
in cardiac output, which can be associated with heart failure in some
patients. However, the elevated cardiac output itself does not lead to
symptoms of congestive heart failure. Over time, because of the increase in
blood volume, the right atrial pressure, pulmonary artery pressure, and left
ventricle end-diastolic pressure gradually increase until the myocardium
decompensates, causing left ventricle dilatation and the development of heart
failure symptoms [2].
Physical findings suggestive of high-output cardiac failure may include
peripheral or pulmonary edema; a cervical venous hum, heard best over the deep
internal jugular veins, particularly on the right side; and cardiomegaly with
a midsystolic murmur in the second and third left intercostal spaces and a
third heart sound that is due to the increased rate of ventricular filling
[2].
Imaging characteristics of hepatic arteriovenous malformations (AVMs) can
be identified on three-phase CT of the abdomen by the presence of an enlarged
extrahepatic or both extra- and intrahepatic arteries. In the arterial phase,
early filling of the hepatic or portal veins indicates the presence of
arteriovenous shunting. Hypodense nodules that show rapid enhancement during
the early arterial phase represent the characteristic hepatic telangiectasia
[3,
4].
Chest radiographs, which are neither sensitive nor specific, may show
well-defined nodules associated with one or more tubular opacities contiguous
with the pulmonary hilum that represent enlarged draining veins. Pulmonary
AVMs have an increased tendency for affecting the lower lobes. Increased
sensitivity can be obtained with chest CT, which classically shows
well-defined single or multiple pulmonary nodules with enlarged feeding
arteries, draining veins, or both
[5].
The prevalence of HHT is one to two persons per 100,000 population. The
onset, course of illness, and sex distributions are the same worldwide.
The pathogenesis of HHT is postulated to arise from mutations of endoglin
and activin-A receptor-type-like kinase 1 (ALK1) genes. These genes
encode for transforming growth factor-ß (TGF-ß) receptors, and both
are exclusively expressed on vascular endothelial cells. Once TGF-ß
receptors are activated via phosphorylation, a signaling cascade results in
nuclear transcription of specific gene promoters, which are involved in
angiogenesis and repair. It is thought that the resulting defects in
connective tissue lead to dilatation of the capillaries and eventually form
telangiectases [6].
HHT, also known as Osler-Weber-Rendu disease, is an autosomal dominant
condition characterized by the clinical triad of recurrent epistaxis,
mucocutaneous or visceral telangiectases, and a family history of the disease.
Symptoms vary depending on the area of involvement, which includes the nasal
mucosa, skin, gastrointestinal tract, pulmonary vasculature, and brain.
Epistaxis is the most common manifestation and occurs in 90% of individuals.
HHT typically presents before the second decade of life
[6].
Liver involvement may cause right upper quadrant pain, portal hypertension,
portosystemic encephalopathy, cholangitis, symptoms of high-output cardiac
failure, and hemorrhage from esophageal varices. Cardiac failure is caused by
a large left-to-right shunt that can occur between the hepatic arteries and
veins. Occasionally, patients may present with atypical cirrhosis.
In patients with known HHT and suspected liver involvement, Doppler
sonography is the imaging technique of choice because it is noninvasive and
reveals vascular malformations
[7,
8].
The prevalence of pulmonary AVMs in patients with HHT has been estimated at
15-33% [9]. Fifty percent of
pulmonary AVMs are asymptomatic, but they may enlarge, especially during
pregnancy, to cause digital clubbing, dyspnea, or hypoxemia due to
right-to-left shunting. Severe complications may occur, such as massive
hemoptysis, pneumothorax, paradoxical emboli, and neurologic complications,
including transient ischemic attack, cerebral stroke, and cerebral abscesses
[10].
Mucocutaneous telangiectases of the skin and buccal mucosa occur in
approximately 75% of individuals with HHT, typically presenting later in life
than epistaxis, and increasing in size and number with age. They most
frequently occur on the face, lips, tongue and buccal mucosa, and fingertips,
but they can occur anywhere. Hemorrhage is rarely of concern clinically; the
main concern is cosmetic
[10].
Objective
The educational objective of this article is to describe the imaging
features in a case of high-output cardiac failure due to hereditary
hemorrhagic telangiectasia.
Conclusion
Imaging features of high-output cardiac failure on chest radiographs are
nonspecific, but the identification on CT of arteriovenous malformations in
the chest or abdomen should suggest the diagnosis of hereditary hemorrhagic
telangiectasia.
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Case History
Radiologic Description
