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Clinical manifestations and diagnosis of ventricular septal defect in adults
Authors: Naser M Ammash, MD, Heidi M Connolly, MD, FASE
Section Editor: Candice Silversides, MD, MS, FRCPC
Deputy Editor: Susan B Yeon, MD, JD, FACC
All topics are updated as new evidence becomes available and our peer review process is complete.
Literature review current through: Dec 2018. | This topic last updated: Dec 05, 2018.
INTRODUCTION — Ventricular septal defect (VSD) is one of the most common congenital heart defects (second
only to bicuspid aortic valve) at birth, but accounts for only 10 percent of congenital heart defects in adults
because many close spontaneously [1,2].
VSDs are of various sizes and locations, can be single or multiple, and may occur with other cardiovascular
conditions (such as pulmonary hypertension or aortic or tricuspid valve regurgitation), making their clinical
presentation, natural history, and treatment variable and sometimes challenging. Although VSDs are commonly
associated with other congenital heart defects including atrial septal defect, patent ductus arteriosus, right aortic
arch, pulmonic stenosis, and more complex defects such as transposition of the great arteries and tetralogy of
Fallot [3], the majority of congenital VSDs in adults present as an isolated or dominant lesion, which is the focus
of this topic. (See "Pathophysiology, clinical manifestations, and diagnosis of Dtransposition of the great arteries"
and "Pathophysiology, clinical features, and diagnosis of tetralogy of Fallot".)
This topic focuses on the clinical manifestations and diagnosis of congenital VSDs in adults. VSD can also occur
as an acquired condition as a complication after acute myocardial infarction, following surgical or transcatheter
aortic valve replacement, as a complication of septal myectomy for hypertrophic cardiomyopathy, or by erosion
from a strut of a mitral valve bioprosthesis [4]. (See "Mechanical complications of acute myocardial infarction",
section on 'Rupture of the interventricular septum' and "Transcatheter aortic valve implantation: Complications",
section on 'Ventricular perforation' and "Hypertrophic cardiomyopathy: Nonpharmacologic treatment of left
ventricular outflow tract obstruction", section on 'Complications of septal myectomy'.)
The natural history, complications, management, and prognosis of VSDs in adults are discussed separately. (See
"Management and prognosis of ventricular septal defect in adults".)
ETIOLOGY OF CONGENITAL VSD — Heterogeneous genetic and environmental factors contribute to
congenital VSDs, and for most congenital VSDs the cause is unknown. About 5 percent of patients with VSDs
have chromosomal abnormalities including trisomy 13, 18, and 21 syndromes [5]. DNA sequence variants within
the GATA4, GATA6, CITED2, NKX25, HAND1, TBX2, and TBX18 genes may also be involved in VSD genesis
[610]. The discovery of SMAD3, a key intracellular messenger regulating TGF beta signaling, may explain the
ascending aorta enlargement (particularly at the sinus of Valsalva) seen in some patients with VSD [11].
ANATOMIC TYPES — The ventricular septum is a nonplanar, threedimensional partition of the ventricle with
five components: the membranous, muscular (also known as trabecular), infundibular, inlet, and atrioventricular
(AV) segments (figure 1 and figure 2). VSDs result from deficient growth or failure of fusion of these components
and vary in size from tiny apertures to very large defects with virtual absence of the septum [12]. In 2000, the
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Society for Thoracic Surgery (STS) and the European Association for Cardiothoracic Surgery (EACTS)
established a unified reporting system for congenital heart disease, including VSD [13]. They classified VSD into
four types: Type 1 defects involve the infundibular septum, type 2 defects involve the membranous septum, type
3 defects involve the inlet septum, and type 4 defects involve the muscular septum.
● Infundibular VSD (type 1, also referred to as supracristal, subarterial, subpulmonary, conal, or doubly
committed juxtaarterial VSD) results from deficiency in the septum above and anterior to the crista
supraventricularis, beneath the aortic and pulmonary valves (figure 2 and image 1 and movie 1 and movie
2). The resultant loss of support of the right and/or left aortic valve cusp causes cusp prolapse into the VSD,
leading to aortic regurgitation that could be progressive [14], and occasionally aortic sinus dilation [15,16].
Infundibular VSDs are more common in individuals of Asian descent; they account for onethird of VSDs
compared with a much lower frequency in the United States population (6 percent of VSDs) [17,18].
● A membranous VSD (type 2, also known as conoventricular) results from deficiency of the membranous
septum and is the most common type of VSD (80 percent of VSDs in the United States) (figure 2 and image
2 and movie 3). This defect is inferior to the crista supraventricularis and borders the septal leaflet of the
tricuspid valve. The defect may extend into the muscular septum and is then referred to as a
perimembranous (or paramembranous) VSD.
● Inlet VSD (type 3, also known as AV canal type) results from deficiency of the inlet septum, located beneath
both mitral and tricuspid valves (image 3). Despite proximity to those valves, this type of defect is not
associated with mitral or tricuspid regurgitation unless associated with AV canal defect; these defects are
typically large and often associated with Down syndrome. (See "Clinical manifestations, pathophysiology,
and diagnosis of atrioventricular (AV) canal defects".)
● Muscular VSDs (type 4), which account for 5 to 20 percent of VSDs, are bordered only by muscle within the
trabecular septum, away from the cardiac valves. Muscular defects can be small or large, single or multiple,
and occasionally oblique with multiple exits resembling Swiss cheese.
● A Gerbode defect or AV VSD is the least common VSD, caused by deficiency of the membranous septum
separating the left ventricle (LV) from the right atrium, resulting in an LVtoright atrial shunt. This defect has
also been reported as an acquired lesion (eg, following endocarditis and valve replacement) [1921].
The spectrum of VSD sizes, hemodynamic effects, and clinical manifestations are discussed below. (See
'Spectrum of clinical presentation' below.)
CLINICAL MANIFESTATIONS — The clinical manifestations of VSD in adults vary with the functional size and
hemodynamic effects of the defect. (See 'Spectrum of clinical presentation' below.)
In addition, some adults with VSD have signs and symptoms related to associated lesions (such as aortic
regurgitation) or complications (such as endocarditis, heart failure [HF], or arrhythmias). (See 'Associated
cardiovascular conditions' below and 'Lesions associated with right atrial enlargement' below and "Management
and prognosis of ventricular septal defect in adults", section on 'Complications and their management'.)
Spectrum of clinical presentation — The spectrum of isolated residual VSDs in adults includes the following
clinical and hemodynamic types [22]. The direction and severity of the shunt associated with VSD are determined
by the VSD’s functional size and, in the absence of right ventricular (RV) outflow obstruction, by the ratio of
pulmonary to systemic vascular resistance or ventricular afterload. A small isolated VSD with lefttoright shunt is
considered a simple congenital heart defect, whereas a VSD associated with one or more additional
abnormalities and/or moderate or greater shunt is considered to be of moderate complexity. VSD associated with
Eisenmenger syndrome is a complex congenital heart defect given the associated cyanosis with its multisystem
involvement.
● Small restrictive VSDs are associated with small lefttoright shunts (pulmonary to systemic flow ratio
[Qp:Qs] <1.5:1), and the pulmonary vascular resistance is not significantly elevated. The orifice dimension is
≤25 percent of the aortic annulus diameter. There is no LV volume overload or pulmonary hypertension (PH).
Most small isolated muscular and perimembranous VSDs close spontaneously during childhood. Adults with
an isolated small restrictive VSD with small lefttoright shunt (often referred to as "maladie de Roger")
generally remain asymptomatic and present with a systolic murmur, often with a thrill from the VSD. There is
risk of endocarditis associated with this lesion, but the magnitude of risk is low. In a minority of cases, a
diastolic murmur from aortic regurgitation develops. (See "Management and prognosis of ventricular septal
defect in adults", section on 'Clinical course and prognosis' and "Auscultation of cardiac murmurs in adults",
section on 'Ventricular septal defect'.)
● Moderately restrictive defects that have not completely closed are associated with moderate shunts (Qp:Qs
≥1.5:1 and <2:1). The defect typically measures >25 but <75 percent of the aortic annulus diameter and
results in mild to moderate volume overload of the pulmonary arteries, left atrium, and LV. Patients with this
lesion often have mild to moderate pulmonary arterial hypertension.
Children with moderatesized VSDs may remain asymptomatic or develop symptoms of mild HF in
childhood. HF usually resolves with medical therapy and with time as the child grows and the VSD gets
smaller in absolute and/or relative terms. However, some adults have moderately restrictive defects that
have not been completely closed, and these patients may develop PH and may have associated symptoms
related to the LV volume overload or PH.
● Large nonrestrictive VSDs (defined as those with diameters ≥75 percent of that of the aortic annulus) lead to
the following clinical scenarios (see "Isolated ventricular septal defects in infants and children: Anatomy,
clinical features, and diagnosis", section on 'Large VSD'):
• Early large lefttoright shunt – Most infants with large VSDs have early large lefttoright shunts (Qp:Qs
≥2.1) as the pulmonary vascular resistance falls postnatally. This results in LV volume overload and HF.
These VSDs are generally closed during the first year of life.
• Progressive pulmonary arterial hypertension – If a large VSD remains uncorrected, it can cause
progressive PH due to longstanding unobstructed pulmonary flow with resultant pulmonary arterial
obstructive disease. The volume of the lefttoright shunt will decline as pulmonary vascular resistance
rises. (See "Isolated ventricular septal defects in infants and children: Anatomy, clinical features, and
diagnosis", section on 'Large VSD' and "Clinical manifestations and diagnosis of pulmonary
hypertension in adults with congenital heart disease".)
• Development of righttoleft shunt (Eisenmenger complex) – With progressive increases in pulmonary
vascular resistance (and/or failure of pulmonary vascular resistance to fall normally postnatally), the RV
pressure may reach systemic or suprasystemic levels, leading to reversal of the shunt so that it is
directed righttoleft with resultant hypoxemia and cyanosis; this is known as Eisenmenger syndrome
[23]. Eisenmenger syndrome in association with VSD is known as Eisenmenger complex; this typically
presents during late childhood to early adulthood. Elevated RV and right atrial pressures cause RV
hypertrophy and right atrial enlargement. (See "Isolated ventricular septal defects in infants and
children: Anatomy, clinical features, and diagnosis", section on 'Large VSD' and "Evaluation and
prognosis of Eisenmenger syndrome".)
● Some adults with prior VSD closure (frequently in childhood) have a residual VSD; these are often
hemodynamically insignificant. Residual VSD and other postclosure sequelae are discussed separately.
(See "Management and prognosis of ventricular septal defect in adults", section on 'Residual VSD' and
"Management and prognosis of ventricular septal defect in adults", section on 'Postoperative course'.)
Dyspnea, exercise intolerance, and fatigue in patients with VSDs can result from progressive LV overload due to
the VSD, associated significant aortic or tricuspid valve regurgitation, PH, or doublechambered RV (DCRV).
(See 'Associated cardiovascular conditions' below.)
Syncope is a rare symptom in patients with VSD; it may be caused by severe PH, RV outflow obstruction caused
by DCRV, large aneurysm of the membranous septum causing RV outflow obstruction, or arrhythmia. (See
"Management and prognosis of ventricular septal defect in adults", section on 'Arrhythmias'.)
Associated cardiovascular conditions — A minority of adults with VSD have associated congenital or acquired
lesions, including aortic regurgitation, tricuspid regurgitation, or sinus of Valsalva dilation. DCRV, an additional
associated lesion, is discussed below (see 'Lesions associated with right atrial enlargement' below). These
associated conditions affect the clinical presentation.
Aortic regurgitation — A minority of adults with VSD (prior to or following closure) have aortic regurgitation
with characteristic signs and symptoms, including a diastolic murmur (see "Auscultation of cardiac murmurs in
adults", section on 'Aortic regurgitation'). Aortic regurgitation occurs in association with infundibular VSD and less
commonly with membranous VSD. It results from deficiency or hypoplasia of the conal septum, causing an
anatomically unsupported aortic valve cusp and aortic sinus. During systole, a Venturi effect drives the right or
left aortic valve cusp into the RV through the VSD, thus making the VSD smaller (figure 3). During diastole, the
intraaortic pressure forces the aortic valve cusps to close, but the unsupported cusp is pushed down into the LV
outflow tract away from the other aortic valve cusps, resulting in cusp prolapse, progressive aortic regurgitation,
and progressive LV volume overload [24,25]. The progression of PH appears to be less common in adult patients
with infundibular VSD [14].
Tricuspid regurgitation — A murmur of tricuspid regurgitation is present in a minority of adults with VSD
(prior to or following closure) (see "Auscultation of cardiac murmurs in adults", section on 'Tricuspid
regurgitation'). Tricuspid regurgitation associated with a membranous VSD may be caused by a tricuspid valve
cleft or dysplasia, or by the VSD jet pushing the tricuspid anterior leaflet forward to open the tricuspid valve orifice
[26].
Aortic sinus dilation — Aortic sinus dilation may occur in a patient with a VSD, most commonly with
infundibular VSD. Rarely, rupture of the aneurysmal sinus of Valsalva occurs in this setting and causes a
continuous murmur. This usually causes a large lefttoright shunt [27]. The change in a murmur to a continuous
murmur and new symptoms occurring in a patient with a known VSD are the clinical clues that lead to this
diagnosis. Echocardiography is helpful in the detection of aortic sinus dilation as well as ruptured sinus of
Valsalva aneurysm.
Physical signs — Most VSDs can be readily identified by cardiac examination depending on their type, size, and
associated hemodynamic abnormalities. The smaller the VSD, the louder the associated murmur. Small VSDs
cause a loud highfrequency systolic murmur, often accompanied by a palpable thrill in the third or fourth left
intercostal space [28]. The aortic closure sound may be normal or masked by the loud murmur. Although the
VSD murmur is typically a holosystolic plateaushaped murmur, it may stop well before the second sound with
some muscular defects because of midsystolic obliteration of the defect [29]. (See "Auscultation of cardiac
murmurs in adults", section on 'Ventricular septal defect'.)
Patients may present with a change in the murmur on physical examination caused by the associated conditions
such as DCRV, PH, ruptured sinus of Valsalva, or aortic regurgitation (figure 4). Membranous VSD may close
spontaneously via adherence of the septal leaflet of the tricuspid valve, which forms an aneurysm of the
membranous septum; this septal aneurysm may cause a new midsystolic click and may lead to syncope when
very large due to RV outflow obstruction. (See 'Associated cardiovascular conditions' above.)
As shown in the figure (figure 4), the cardiac examination of patients with VSD and valvular or subvalvular
pulmonary stenosis depends on the severity of the latter lesion. The typical holosystolic VSD murmur may be
replaced by a "diamondshaped" (crescendodecrescendo) midsystolic murmur or simply consist of a systolic
ejection component in the presence of pulmonic stenosis. Similarly, DCRV with VSD is associated with a loud
midsystolic crescendodecrescendo murmur at the left sternal border, often associated with a thrill [30]. An
infundibular VSD allows blood to be shunted toward the pulmonary artery and therefore there may be a systolic
ejection murmur heard maximally in the second intercostal space. (See "Auscultation of cardiac murmurs in
adults", section on 'Ventricular septal defect'.)
Patients with infundibular or membranous VSDs who develop aortic regurgitation demonstrate a diastolic
decrescendo murmur. When the aortic regurgitation is severe, wide pulse pressure, pistol shot femoral pulses,
and collapsing pulses are often noted. A toandfro, systolic/diastolic murmur, best heard in the upper sternal
border, and composed of a systolic VSD murmur and a separate highfrequency diastolic murmur of aortic
regurgitation is also noted. This may simulate continuous murmurs such as those heard with ruptured sinus of
Valsalva aneurysm or patent ductus arteriosus. However, in patients with VSD and aortic regurgitation, the
systolic component stops at or before the second heart sound and does not envelop it as continuous murmurs
do. The presence of longstanding severe aortic regurgitation will also cause LV enlargement. (See "Auscultation
of cardiac murmurs in adults", section on 'Aortic regurgitation'.)
In patients with moderately restrictive or large VSDs, the character and timing of the systolic murmur changes
with progressive PH. With PH, the murmur is early systolic, and the peak of the murmur occurs earlier.
When VSD is complicated by pulmonary vascular obstructive disease and severe PH as in Eisenmenger
complex, the patients have central cyanosis and clubbed digits. The typical findings on cardiac examination in
Eisenmenger complex include the following (see "Evaluation and prognosis of Eisenmenger syndrome", section
on 'General features'):
● Absence of the typical holosystolic murmur of VSD due to equalization of RV and LV pressures with
associated loss of the lefttoright shunt. Systolic murmur in the presence of Eisenmenger syndrome is
typically caused by tricuspid regurgitation. There may also be a midsystolic pulmonary ejection murmur
associated with severe PH. (See "Auscultation of cardiac murmurs in adults", section on 'Ventricular septal
defect'.)
● Jugular venous pressure examination demonstrating a prominent "a" wave due to RV hypertrophy. Once the
patient develops severe tricuspid regurgitation, a prominent "v" wave is also noted.
● Prominent RV impulse and palpable and loud pulmonary closure sound, which often fuses with the aortic
closure sound, producing a single second heart sound. (See "Auscultation of heart sounds", section on
'Single S2'.)
● Midsystolic pulmonary ejection click due to dilated pulmonary artery. (See "Auscultation of heart sounds",
section on 'Pulmonary ejection sound'.)
● Diastolic blowing murmur of pulmonary regurgitation, the Graham Steell murmur, may be heard and
occasionally palpated along the left upper sternal border. (See "Auscultation of cardiac murmurs in adults".)
● With advanced disease, signs of right HF such as edema, ascites, and hepatomegaly can occur.
Initial tests — An electrocardiogram (ECG) and a chest radiograph are commonly performed in the evaluation of
patients with known or suspected VSD.
Electrocardiogram — An ECG is a component of the evaluation of patients with known or suspected VSD to
serve as a baseline for followup comparison, although findings are generally nonspecific. The majority of
patients with isolated VSD, especially when small, have a normal ECG (eg, 66 percent in a medicallymanaged
group of patients with VSD) [31]. However, various ECG abnormalities such as intraventricular conduction delay
or right bundle branch block have been observed among those with larger defects. In addition, ECG signs of left
atrial enlargement and LV enlargement or hypertrophy can be present with significant LV volume overload due to
VSD shunt and/or aortic regurgitation.
In the presence of Eisenmenger complex, or significant RV outflow obstruction such as that caused by DCRV,
the ECG reflects the elevated RV pressure with findings including right axis deviation, features of right atrial
enlargement, and RV or biventricular hypertrophy. The prevalence of atrial and ventricular premature beats and
arrhythmias increases as the RV pressure increases, and therefore may be incidentally noted on the ECG.
Chest radiograph — A chest radiograph is not required to diagnose VSD but is appropriate to evaluate the
cause of dyspnea or pulmonary hypertension. . The chest radiograph in patients with uncomplicated small VSD
demonstrates a normal cardiac silhouette and pulmonary vascular markings. With larger VSDs, the chest
radiograph may show cardiomegaly with prominent LV contour and left atrial and pulmonary artery enlargement
due to volume overload; this is directly related to the magnitude of the shunt. The chest radiograph may also
show evidence of shunt vascularity. Cardiomegaly on chest radiograph suggests a significant lefttoright shunt
through the VSD with a Qp:Qs >2 or the presence of significant aortic regurgitation, or both.
In the presence of Eisenmenger complex, the cardiomegaly noted on a chest radiograph has an RV contour due
to RV hypertrophy and is frequently accompanied by right atrial enlargement and prominent central pulmonary
arteries with pruning of peripheral pulmonary vessels. (See "Evaluation and prognosis of Eisenmenger
syndrome", section on 'Initial evaluation'.)
DIAGNOSIS
When to suspect VSD — A VSD should be suspected in a patient who presents with a characteristic
holosystolic murmur; there are generally no associated symptoms in patients with small VSDs, while patients with
moderate or large VSDs develop symptoms such as dyspnea and fatigue. For small and moderately restrictive
VSDs, the murmur is typically holosytolic, as RV pressure is lower than LV pressure throughout systole. For large
VSDs with increased RV and pulmonary artery pressure, the murmur is instead early systolic, and physical
findings of pulmonary arterial hypertension and RV hypertrophy are present. When ventricular pressures are
equal in Eisenmenger complex, there is no murmur across the VSD; instead, there is a midsystolic murmur due
to dilation of the pulmonary trunk or a holosystolic murmur related to tricuspid valve regurgitation, and S2 is
markedly accentuated and single. (See 'Physical signs' above and "Auscultation of cardiac murmurs in adults",
section on 'Ventricular septal defect' and "Clinical features and diagnosis of pulmonary hypertension in adults",
section on 'Examination'.)
VSD should also be suspected on echocardiography in the presence of unexplained LV dilation, aortic valve
prolapse with aortic regurgitation, or when a doublechambered RV (DCRV) is noted.
How to diagnose and evaluate VSD — A VSD is generally identified and its hemodynamic effects assessed by
transthoracic echocardiography (TTE). TTE is also the key test for identifying and evaluating associated
cardiovascular conditions such as aortic regurgitation, aortic sinus dilation, DCRV, and pulmonary hypertension
(PH). (See 'Associated cardiovascular conditions' above.)
Since patients with congenital heart disease may underreport symptoms and functional limitations, we suggest
exercise testing for the patient with a VSD to provide an objective functional assessment. (See 'Exercise testing'
below.)
Supporting data are obtained by further noninvasive imaging in selected cases. Cardiovascular magnetic
resonance imaging (CMR) is indicated to assess the VSD in complex cases. Some experts also refer patients for
CMR at an experienced center to assess the pulmonary to systemic flow ratio (Qp:Qs) and ventricular sizes and
function if the hemodynamic significance of a VSD is uncertain on echocardiography (eg, there is borderline LV
dilation). (See 'Cardiovascular magnetic resonance' below.)
If CMR at an experienced center is not available or contraindicated, cardiac computed tomography is a potential
alternative noninvasive option. (See 'Cardiac computed tomography' below.)
However, evaluation by cardiac catheterization is generally required if the significance of the shunt is uncertain
(based upon echocardiography) and is also indicated if there is PH. Cardiac catheterization includes assessment
of Qp:Qs, pulmonary artery pressures, and pulmonary vascular resistance. (See 'Cardiac catheterization' below.)
Key tests
Echocardiogram — A comprehensive TTE examination is the single most important clinical test needed in
evaluating a patient with a VSD for hemodynamic burden, associated congenital defects, and potential longterm
complications. TTE has an excellent detection rate (88 to 95 percent) for VSD depending on the size and location
of the VSD, and the technical expertise of the examiner [24]. TTE is most sensitive for VSDs larger than 5 mm
and those located in the membranous, inlet, or infundibular septum, while being least sensitive for those in the
apical trabecular septum. TTE is performed during initial assessment of a VSD and on subsequent followup
evaluation; the testing interval depends on the number, size, location, and impact of the VSDs; and the
physiologic state of the patient [22]. (See "Echocardiographic evaluation of ventricular septal defects" and
"Management and prognosis of ventricular septal defect in adults", section on 'Approach to management'.)
Transesophageal echocardiography (TEE) is reserved for patients with suboptimal precordial TTE windows and
when specific questions are not confidently answered using TTE, such as the degree of aortic valve distortion,
severity of aortic regurgitation, and the presence of vegetations when endocarditis is suspected. TEE or
intracardiac echocardiography are also used during interventional procedures.
Echocardiogram components — A thorough TTE examination is best achieved by imaging the ventricular
septum and surrounding structures in multiple planes with color flow and spectral Doppler. The parasternal long
axis views allow the distinct visualization of muscular, membranous (image 2 and movie 3), and infundibular
VSDs (movie 1). The latter two defects are both seen below the aortic valve and are sometimes difficult to
differentiate from each other on the long axis image. On parasternal short axis imaging, these VSD types are
clearly distinguished with a membranous defect adjacent to the tricuspid valve, whereas an infundibular defect is
adjacent to the pulmonary valve (figure 2). The parasternal view also enables visualization of an aneurysm of the
membranous septum or sinus of Valsalva and assists in the evaluation of aortic regurgitation severity (image 1)
and DCRV (image 4 and movie 4).
The apical views enable assessment of inlet muscular and Gerbode defects. Inlet VSDs are adjacent to the mitral
and tricuspid valves (image 3) and extend into the chordal attachments of the tricuspid valve, whereas the
muscular VSDs are located in the trabecular septum away from the cardiac valves. Gerbode defects are best
visualized within the cardiac crux on apical fourchamber view in which color flow Doppler demonstrates an LV
toright atrial shunt.
In addition to the accurate identification of the morphologic features of the VSD, its size, and its borders,
echocardiography also provides a hemodynamic assessment of the shunt severity; identifies volume overload of
the left atrium, LV, right atrium, RV, and pulmonary artery; and identifies the presence and severity of associated
complications including DCRV, aortic regurgitation, PH, and aneurysm of membranous septum or sinus of
Valsalva aneurysm. Finally, echocardiography provides an excellent noninvasive assessment of the degree of
aortic valve distortion, prolapse, and aortic regurgitation in most patients with infundibular or membranous VSDs.
Qp:Qs is generally not calculated by echocardiography due to technical limitations. The presence of normal left
atrial and LV size in an adult is suggestive of a small restrictive uncomplicated VSD with a small lefttoright
shunt. On the other hand, unexplained enlargement of the left atrium, LV, and pulmonary artery in an adult is
indicative of a larger VSD with significant lefttoright shunt, necessitating consideration of repair. (See
"Echocardiographic evaluation of ventricular septal defects".)
Color flow Doppler, including color M mode, and spectral Doppler analysis across the VSD can determine the
size, impact, severity, timing, and the direction of the shunt.
● A continuous wave Doppler velocity of ≥5 m/s across the VSD is suggestive of a small restrictive defect with
a small lefttoright shunt. With a tunneltype VSD (suggested by defect length/width >1.2), continuous wave
Doppler may overestimate the interventricular pressure gradient due to pressure recovery phenomena [32].
● On the other hand, low continuous wave Doppler velocities across the VSD suggest elevated RV pressure,
which may be related to the presence of valvular pulmonary stenosis, DCRV, or PH. When the RV pressure
is elevated, the pressure difference between the LV and RV is reduced.
When assessing the hemodynamic burden of a VSD and any associated lesions, it is imperative to obtain an
accurate estimation of the systemic blood pressure as well as the RV and pulmonary artery pressures. All
echocardiographic windows should be used to acquire noncontaminated tricuspid and pulmonic regurgitant
velocity signals to enable accurate estimation of the RV and pulmonary artery diastolic pressures. Occasionally,
these cannot be accurately measured by Doppler echocardiography, due to the location or direction of the VSD
jet. The pulmonary regurgitation jet may help define the pulmonary artery pressure. A study found poor
correlation between tricuspid regurgitant and VSD jet in pulmonary artery systolic pressure assessment using the
Bernoulli equation [33]. When the Doppler echocardiography data are inconclusive or do not correlate with
clinical assessment, cardiac catheterization is required to assess the pulmonary pressures and shunt flow.
Echocardiographic assessment of VSD can usually be performed accurately using twodimensional TTE.
Advances in threedimensional (3D) echocardiography have made it possible to visualize VSDs accurately using
3D full volume with cropping or narrowsector live 3D imaging protocols, irrespective of their location [34]. 3D
echocardiography may also be used in the evaluation of ventricular volumes.
Lesions associated with right atrial enlargement — Right atrial enlargement is not typical for isolated
VSD but is associated with a VSD in the following three settings:
● Eisenmenger complex. (See 'Spectrum of clinical presentation' above and "Evaluation and prognosis of
Eisenmenger syndrome".)
● Gerbode defect, which is a shunt between the LV and right atrium, resulting from either a congenital defect
or as an acquired condition. (See 'Anatomic types' above.)
● DCRV, which is a form of acquired subpulmonic stenosis caused by hypertrophy of an aberrant muscle
bundle that develops in the RV in the region of the membranous VSD jet flow (image 4). As its name implies,
in DCRV, the RV is divided into two chambers: a proximal highpressure chamber close to the tricuspid valve
and a distal lowpressure chamber proximal to the pulmonary valve separated by the obstructive muscle
bundle. This condition occurs in 3 to 10 percent of patients with membranous VSDs and protects against the
development of PH [35].
Exercise testing — Exercise testing, preferably a cardiopulmonary exercise test, may be helpful in select
patients with VSD, especially when functional deterioration is suspected [22]. Adult patients with congenital heart
disease exhibit a great ability to adapt to the functional limitations imposed by their birth defect. Concern has
been raised that this adaptability may result in a lack of reported symptoms, which in turn may delay intervention,
since the presence of symptoms is a common indication for repair.
As a result, we advocate the use of exercise stress testing to objectively assess the exercise tolerance and
functional aerobic capacity. The inability to achieve 70 percent of expected functional aerobic capacity is felt to be
abnormal. A documented deterioration in exercise capacity over time might be an early sign of functional decline.
Such a finding may be useful in defining optimal timing of intervention.
For patients with severe symptoms who are unable to complete an exercise test, a sixminute walk test may be
helpful to provide a basis for followup and potential therapeutic response [22].
Cardiovascular magnetic resonance — CMR imaging can provide accurate, reliable, and reproducible
assessment of cardiac structure and function in congenital heart disease when performed by an expert [36].
These techniques offer certain advantages over echocardiography, since they allow for unrestricted evaluation of
cardiac chambers and great arteries not compromised by air, bone, or surgical scar. Summation of disks on
multiple tomographic slices during ventricular diastole and systole permits direct and accurate measurement of
ventricular volume and function. Such data are helpful in determining timing of intervention or repair in adults with
VSDs. However, these techniques have not been widely adopted in the evaluation of VSD, primarily because
echocardiography is more widely available and provides sufficient information in most cases.
CMR may be particularly helpful for the following:
● CMR phase contrast cine techniques enable quantitation of Qp:Qs which correlates strongly with results
obtained by cardiac catheterization [37,38].
● CMR may be helpful for assessment of coexisting lesions in the pulmonary artery, pulmonary veins, or aorta
[39].
● CMR can identify lesions such as apical VSD not well characterized by echocardiography [40].
Cardiac computed tomography — For patients who require imaging beyond echocardiography and for
whom CMR is contraindicated or unavailable, cardiac computed tomography (CCT) is an alternative noninvasive
option for evaluating coexisting lesions in the pulmonary arteries, veins, or aorta, and further assessment of the
VSD. Only limited data are available on the use of CCT for Qp:Qs [41]. In selected patients, coronary CT
angiography is an alternative preoperative diagnostic tool for assessment of coronary artery disease. A
disadvantage of CCT is that it exposes the patients to ionizing radiation, which is particularly of concern when
serial studies are contemplated over a lifetime. (See "Noninvasive coronary imaging with cardiac computed
tomography and cardiovascular magnetic resonance".)
Cardiac catheterization — Given the key role of echocardiography in evaluating patients with VSDs, cardiac
catheterization is a key clinical test reserved mainly for the following scenarios:
● VSD with indeterminate hemodynamic significance by noninvasive measures, since cardiac catheterization
is helpful in determining the Qp:Qs and pulmonary artery pressures.
● VSD associated with DCRV or valvular pulmonary stenosis in which shunt size and/or RV outflow tract
gradient and pulmonary artery pressure are incompletely delineated by noninvasive measures.
● VSD with PH to measure pulmonary artery pressure, cardiac index, pulmonary and systemic vascular
resistance and the response to oxygen, vasodilators, and nitrous oxide in order to assess the operability of
the patient. (See "Management and prognosis of ventricular septal defect in adults", section on 'Indications
for VSD closure'.)
Other indications for cardiac catheterization include evaluation of aortic regurgitation in patients with aortic valve
prolapse, determination of whether multiple VSDs are present before surgery, determination of VSD anatomy if
percutaneous device closure is contemplated, and performance of preoperative coronary angiography in patients
at risk for coronary artery disease [39,42]. CT of the coronary arteries has emerged as an alternative reliable
preoperative diagnostic tool for assessment of coronary artery disease in selected patients.
DIFFERENTIAL DIAGNOSIS — The differential diagnosis in a patient with a murmur suggestive of small VSD
includes other causes of holosystolic murmurs (figure 4), such as mitral and tricuspid regurgitation. As noted
above, since VSD may be accompanied by valve lesions such as tricuspid regurgitation, some patients may have
two causes of a holosystolic murmur. At times, the systolic murmur originating from LV outflow obstruction can be
harsh, simulating VSD murmur, but an LV outflow murmur is typically an ejection type and can also be
distinguished from a VSD murmur by dynamic auscultation maneuvers. The early systolic or midsystolic murmur
of a VSD associated with pulmonary hypertension should be distinguished from other causes of midsystolic
murmurs, such as aortic or pulmonic valve stenosis. The systolic and diastolic murmurs noted in sequence in
patients with VSD associated with aortic regurgitation can at times be mistaken for a continuous murmur of a
patent ductus arteriosus or ruptured sinus of Valsalva aneurysm, or those caused by a large coronary artery
fistulae. Echocardiography (generally transthoracic) is the key test in distinguishing VSD from these other causes
of murmurs. (See 'Physical signs' above and "Echocardiographic evaluation of ventricular septal defects".)
SUMMARY AND RECOMMENDATIONS
● Ventricular septal defects (VSDs) are classified into four anatomic types: Type 1 defects involve the
infundibular septum, type 2 defects involve the membranous septum (the most common type), type 3 defects
involve the inlet septum, and type 4 defects involve the muscular septum (figure 1 and figure 2). (See
'Anatomic types' above.)
● The spectrum of VSDs in adults includes the following hemodynamic and clinical types (see 'Spectrum of
clinical presentation' above):
• Small restrictive VSDs with small lefttoright shunts (pulmonary to systemic flow ratio [Qp:Qs] <1.5:1);
this type is generally associated with no symptoms and no pulmonary hypertension (PH).
• Moderately restrictive VSDs with moderate shunts (Qp:Qs ≥1.5:1 and <2:1) that have not undergone
closure often cause mild to moderate PH, and/or left heart volume overload, which may cause
symptoms.
• Large nonrestrictive unrepaired VSDs cause progressive pulmonary arterial hypertension. The leftto
right shunt declines and then reverses; the resultant righttoleft shunt causes hypoxemia and cyanosis
(Eisenmenger syndrome). (See "Isolated ventricular septal defects in infants and children: Anatomy,
clinical features, and diagnosis", section on 'Large VSD' and "Evaluation and prognosis of Eisenmenger
syndrome".)
• Some adults with prior VSD closure may have a residual VSD. (See "Management and prognosis of
ventricular septal defect in adults", section on 'Residual VSD'.)
● A minority of adults with VSD have associated congenital or acquired lesions including aortic regurgitation,
tricuspid regurgitation, doublechambered RV, or sinus of Valsalva dilation. These patients require close
monitoring. (See 'Spectrum of clinical presentation' above and 'Lesions associated with right atrial
https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ventricular-septal-defect-in-adults/print?search=ventricular%20septal%20defect&sour… 10/19
enlargement' above and "Management and prognosis of ventricular septal defect in adults", section on
'Approach to management'.)
● A VSD should be suspected in a patient who presents with a characteristic murmur. There are generally no
associated symptoms in patients with small VSDs, while patients with moderate or large VSDs develop
symptoms such as dyspnea and fatigue. (See 'When to suspect VSD' above.)
● A VSD is generally identified and its hemodynamic effects assessed by transthoracic echocardiography
(TTE). TTE is also the key test for identifying and evaluating associated cardiovascular conditions such as
aortic regurgitation. (See 'How to diagnose and evaluate VSD' above.)
● Cardiovascular magnetic resonance imaging (CMR) is recommended to assess VSD anatomy, impact on
chamber size and function, and in some situations can be used to assess Qp:Qs. If CMR is not available or
contraindicated, cardiac computed tomography is an alternative noninvasive option. (See above and above
and above.)
● If the results of noninvasive imaging evaluation for VSD are inconclusive or if there is evidence of moderate
or severe PH, cardiac catheterization is indicated for hemodynamic evaluation, including the evaluation of
PH. (See 'How to diagnose and evaluate VSD' above and 'Cardiac catheterization' above.)
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Topic 13602 Version 17.0
GRAPHICS
Segments of the ventricular septum
Diagrammatic illustration of the various segments of the ventricular septum as viewed from the left
ventricle (panel A) and along the length of interventricular septum (panel B): membranous (MS),
infundibular (IS), trabecular (TS), inlet (IN), and atrioventricular (AVS) septum.
LA: left atrium; LV: left ventricle; RA: right atrium; RV: right ventricular; AV: aortic valve.
Reprinted with permission: Ammash N. Ventricular Septal Defects. In: Adult Congenital Heart Disease, Warnes,
CA (Ed). © 2009 American Heart Association, Inc.
Graphic 53692 Version 6.0
Schematic illustration of a parasternal shortaxis
echocardiographic view showing ventricular septal
defects
This schematic of the parasternal shortaxis echocardiographic view shows the
location of the membranous septum (MS; blue) with membranous defect (M),
the infundibular septum (IS; yellow) with infundibular defect (I), and
atrioventricular septum (AVS; pink).
R: right coronary cusp of the aortic valve; N: noncoronary cusp; L: left coronary
cusp; LA: left atrium; RA: right atrium; TV: tricuspid valve; RV: right ventricle; MPA:
main pulmonary artery.
Reprinted with permission: Ammash N. Ventricular Septal Defects. In: Adult
Congenital Heart Disease, Warnes CA (Ed). © 2009 American Heart Association, Inc.
Echocardiogram of infundibular ventricular septal defect
Transthoracic echocardiogram showing an infundibular or supracristal defect with and
without color flow Doppler in systole and diastole. Aortic valve prolapse is seen in early
systole (A). As blood is ejected from the left ventricle (LV), the anatomically unsupported
coronary cusp and aortic sinus are driven into the right ventricle (RV) by a Venturi effect.
Color flow Doppler shows lefttoright shunt across the VSD (B). In diastole (C), the
unsupported cusp does not coapt with the other coronary cusps, resulting in aortic
regurgitation.
Reprinted with permission from: Ammash N. Ventricular Septal Defects. In: Adult Congenital
Heart Disease, Warnes, CA (Ed). © 2009 American Heart Association, Inc.
Parasternal long axis view of membranous ventricular
septal defect
Parasternal long axis view with color flow Doppler demonstrating membranous
ventricular septal defect (arrow) underneath the aortic valve with color flow
Doppler demonstrating a lefttoright shunt from the left ventricular outflow
tract into the right ventricle (double arrow).
LA: left atrium; LV: left ventricle; RV: right ventricle; Ao: aorta.
Courtesy of Dr. Naser Ammash.
Echocardiogram of inlet ventricular septal defect
Apical fourchamber view demonstrating a large inlet ventricular septal defect
underneath the mitral and tricuspid valves.
RA: right atrium; LA: left atrium; RV: right ventricle; LV: left ventricle.
Courtesy of Dr. Naser Ammash.
Pathophysiology of aortic regurgitation with ventricular septal defect
Pathophysiology of aortic regurgitation. In early systole (A), ejected blood from the left ventricle (LV)
will be shunted through the ventricular septal defect. As a result, the anatomically unsupported
coronary cusp and aortic sinus are driven into the right ventricle (RV) (B) (Venturi effect). In diastole
(C), the intraaortic pressure forces the aortic valve leaflet to close, but the unsupported cusp (right or
noncoronary) is pushed down into the left ventricular outflow tract away from the opposed coronary
cusp, resulting in regurgitation.
AR: aortic regurgitation; IVS: interventricular septum; PA: pulmonary artery.
Reproduced with permission from: Tatsuno K, Konno S, Ando M, et al. Pathogenetic mechanisms of prolapsing
aortic valve and aortic regurgitation associated with ventricular septal defect. Anatomical, angiographic, and
surgical considerations. Circulation 1973; 48:1028. Copyright © 1973 Lippincott Williams & Wilkins.
Cardiac examination for VSD
Graphic illustration of the cardiac examination in ventricular septal defect (VSD).
(A) Holosystolic murmur of VSD.
(B) Shortened systolic murmur of muscular (VSD).
(C) Typical murmur of VSD with mild pulmonary stenosis (PS) showing the delayed pulmonary closure sound
(P 2 ).
(D) Systolic ejection murmur of severe pulmonary stenosis with delayed and reduced P 2 .
(E) Eisenmenger complex with absence of the holosystolic murmur of VSD (see text), a loud P 2 secondary to
pulmonary hypertension, and pulmonary regurgitation (PR) diastolic murmur.
(F) VSD murmur followed by diastolic murmur of aortic regurgitation (AR).
S 1 : first heart sound; A 2 : aortic closure sound.
Reprinted with permission Ammash N. Ventricular Septal Defects. In: Adult Congenital Heart Disease, Warnes, CA
(Ed). © 2009 American Heart Association, Inc.
Doublechambered right ventricle
Transesophageal echocardiographic views of doublechambered right ventricle (DCRV) without (A) and
with color (B) at the base of the heart, showing an obstructive muscle bundle separating the proximal
high pressure (PC) and distal low pressure (DC) chambers.
Reprinted with permission: Ammash N. Ventricular Septal Defects. In: Adult Congenital Heart Disease, Warnes
CA (Ed). © 2009 American Heart Association, Inc.

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