Introduction
Isolated cleft of the anterior mitral leaflet (not associated with atrioventricular
septal defect) is a rare cause of congenital mitral regurgitation. When feasible,
mitral
valve repair (direct suturing of the cleft with or without prosthetic annular ring
insertion) is preferable to valve replacement. We report a clinical case in which
we
describe the usefulness of three-dimensional (3D) transthoracic echocardiography (TTE)
for diagnosis and morphological assessment of the defect to assist in planning the
surgical procedure.
Case Report
An 18-year-old asymptomatic man with a history of systolic murmur from childhood
presented for a cardiac evaluation. Cardiac examination detected an apical holosystolic
murmur radiating to the axilla. His 12-lead rest electrocardiogram was normal. A
two-dimensional (2D) TTE showed the presence of a severe eccentric mitral regurgitation
jet directed towards the lateral wall of the enlarged let atrium (Figures A and B
and Video 1). The mitral annulus was normally sized. The
left ventricle showed normal size and function. No other cardiac abnormalities were
detected by 2D TTE. To better define the anatomy of the mitral valve, 3D TTE was
performed. "En face" views of the mitral valve were obtained by cropping 3D data sets
acquired from both the apical and the parasternal acoustic windows. A defect was
visualized in the anterior leaflet of the mitral valve at the level of the A3 scallop
(Figures D-Figures D and Video 2). At mid-systole,
the defect was 0.8-cm large and 1.2-cm deep with a planimetric anatomic regurgitant
area
of 0.7 cm2, while the effective regurgitant orifice was 0.61 cm2.
Potential acquired causes of this morphological finding such as previous trauma,
surgery, and infective endocarditis were also excluded, and the final diagnosis was
isolated cleft of the anterior mitral leaflet (ICAML). Considering the large size
of the
defect, the severity of the regurgitation, and its location near the posteromedial
commissural, neither a direct suture nor an autologous pericardium patch implant was
considered feasible surgical options (Videos 3 and
4).
Video
1) 2D TTE parasternal long-axis view with color Doppler demonstrating an eccentric
regurgitant flow through the anterior mitral leaflet and directed towards the left
atrium lateral wall; 2) 3D TTE “en face” mitral view in which we could visualize
the two portions of the anterior leaflet floating together during systole, whereas
during diastole, the edges of the cleft were widely apart; 3) 3D TTE ventricular
mitral view in which we could visualize the two portions of the anterior leaflet
floating together during systole, whereas during diastole, the edges of the cleft
were widely apart; 4) 3D TTE in which an echo-free area is easily visualized in
this cut, representing the break in the leaflet.
Figure 1
A) 2D apical two-chamber view showing a defect in the anterior leaflet, where an
eccentric regurgitant flow path is identified by color Doppler; B) 2D short-axis
view just below the aortic root, at the level of the aortic to mitral valve
fibrous continuity; C) continuous Doppler tracing of the regurgitant flow, showing
a dense spectrum suggestive of severe regurgitation; D and E) 3D ventricular and
atrial, respectively, "en face" views of the mitral valve at mid-systole showing
the anatomic orifice with 3D planimetric area and diameter measurements; F) 3D
atrial "en face" view of the mitral valve at diastole demonstrating the cleft in
A3; G) 3D TTE acquisition demonstrating the defect in the anterior leaflet echo
localized in A3 (note the division in the anterior leaflet as indicated by the
arrow); H) 3D ventricular "en face" view of the mitral valve with color Doppler,
demonstrating the PISA at the A3 portion; I) 3D effective regurgitant orifice
planimetric area.
Intraoperative assessment confirmed the 3D TTE findings. A cleft was identified in
the
medial third of the anterior leaflet of the mitral valve. No other abnormalities of
the
mitral apparatus were found. A 31-mm St. Jude Medical Biocor® prosthesis was then
successfully implanted according to the patient’s choice. The post-operative course
was
uneventful, and at 6-month follow-up, the patient remained asymptomatic with a normally
functioning mitral prosthesis.
Discussion
ICAML is a rare congenital cardiac disease characterized by a cleft on the anterior
mitral valve leaflet that is not associated with an ostium primum atrial septal defect
or other features of atrioventricular septal defect
1,2
. ICAML has been
hypothesized to be the result of an incomplete expression of an endocardial cushion
defect
3
. It usually involves the
anterior leaflet, dividing it in its entirety and pointing towards the left ventricular
outflow tract without endocardial cushion defect
1
. The mitral annulus is usually in a normal position.
ICAML may cause mitral regurgitation of varying severity. Previous reports have
suggested that surgical management should be indicated in the presence of more than
mild
mitral regurgitation, even in asymptomatic patients
4
. When feasible, surgical repair is the intervention of choice; it
consists of a direct suture of the cleft or insertion of an autologous pericardial
patch
(when the cleft is extremely wide due to a retraction of the cleft’s edge), with or
without insertion of a prosthetic ring
4,5
.
Echocardiography is the technique of choice for evaluating suspected or known mitral
valve congenital abnormalities. It provides useful information on the topography and
morphology of the defect, as well as the mechanism and severity of the regurgitation.
However, due to its tomographic nature, 2D echocardiography, both TTE and
transoesophageal (TEE), has limited capability in defining the complex 3D anatomic
characteristics of the cleft such as position, size, and morphology. The added value
of
3D echocardiography in assessing mitral valve morphology and function has been
extensively documented in acquired mitral valve disease
6
. 3D echocardiography allows the display of the non-planar
geometry of the valve leaflets and annulus, as well as the complex subvalvular apparatus
and its spatial relationships with the surrounding structures. In addition, with 3D
echocardiography, there is no need to mentally reconstruct individual tomographic
views
of the mitral valve because real-time anatomical views of the mitral valve similar
to
the surgical view could be displayed in the beating heart. Due to its higher image
resolution, 3D TEE has been described for the evaluation of ICAML in several case
reports
7-12
In our patient, 3D TTE allowed us to visualize ICAML
from a surgical perspective, define its exact position, morphology, and size, assist
in
planning the surgical procedure, and discuss the choices for prosthesis with the patient
without the need for semi-invasive procedures such as TEE. Our findings suggest that
in
patients with good acoustic window, the data provided by 3D TTE allow surgeons to
plan
the surgical procedure before entering the operating room. A 3D TEE can be performed
in
the operating room after anesthesia induction to obtain further anatomical details
prior
to the actual surgery. This strategy will reduce patient discomfort and the
corresponding costs for patient workup.
Consent
Written informed consent was obtained from each patient that the findings of this
study
will be published as a case report, together with various kinds of images.