00_Pg garda_q.cdr

Mædica - a Journal of Clinical Medicine
C ASE
PRESENTATION
Incomplete form of Shone’ syndrome
Eliza CINTEZAa, MD; Ioana ANCAb, MD, PhD; Ioan GHERGHINAc, MD, PhD
a
Assistant Professor, 2nd Pediatrics Department,
UMF “Carol Davila”, Bucharest, IOMC “A. Rusescu”, Bucharest, Romania
b
Professor of Pediatrics, 1st Pediatrics Department,
UMF “Carol Davila”, Bucharest, IOMC “A. Rusescu”, Bucharest, Romania
c
Professor of Pediatrics, 2nd Pediatrics Department,
UMF “Carol Davila”, Bucharest, IOMC “A. Rusescu”, Bucharest, Romania
ABSTRACT
Left heart obstructions might be located at multiple levels. The authors present the case of a 7 months male
infant referred for a lower respiratory tract infection with signs of cardio-respiratory failure. The
echocardiografic examination identified an aortic coarctation associated to other signs of obstructions at
different levels of the heart. Coarctation of the aorta might be associated with other cardiac abnormalities.
Recognition of the aortic coarctation’s associated defects (e.g. Shone syndrome) is essential for the longterm prognosis. Shone syndrome’s prognosis depends on the mitral valve status with or without the
presence of pulmonary hypertension and of other associated defects.
Key words: coarctation of the aorta, Shone syndrome.
INTRODUCTION
T
he processus of recognition and clas
sification of cardiac lesions in infants
and newborns is sometimes difficult.
An accurate diagnosis is extremely
important because of its direct influ-
ence on short and long-term prognosis. In
many cases the association of complex abnormalities makes the final diagnosis difficult.
Left heart syndromes are classified in
table 1. ‰
Obstructive left ventricle lesions (1,2)
Pulmonary veins
Pulmonary vein stenosis
Hypoplastic pulmonary veins
Extrinsec compression
Left atrium
Cor triatriatum
Supravalvular stenosing ring
Mitral valve
Hypoplastic mitral valve
Congenital mitral stenosis
Parachute mitral valve (one papillary muscle where are
inserted all the chordae).
Anomalous mitral arcade
Double-orifice mitral valve
Aortic valve
Subvalvular
Discrete membranous stenosis (membrane or circumferential fibromuscular ridge)
Fibromuscular tunnel (diffuse hypoplasia of the LV outflow tract)
Hypertrofic obstructive cardiomyopathy
Valvular
Unicuspid
Bicuspid
Dysplastic
Supravalvular
Discrete (membranous or “hourglass”)
Aortic hypoplasia or atresia
Interrupted aortic arch
Coarctation of the aorta
Associated obstructive lesions
Shone syndrome
Other lesions of the LV
Hypoplastic left heart syndrome
TABLE 1. Left heart syndromes
Address for correspondence:
Eliza Cinteza, MD, IOMC “Alfred Rusescu”, 120 Lacul Tei Blvd, District 2, Bucharest, Romania
email address: [email protected]
Mædica A Journal of Clinical Medicine, Volume 3 No.4 2008
255
INCOMPLETE FORM OF SHONE’ SYNDROME
CASE PRESENTATION
B
M, a 7 months male infant, with apparently
healthy young parents was born on the 12th of April 2006, from an uneventful and not
monitored pregnancy. The baby is the second
child, naturally delivered at 38 weeks gestational
age in cranial presentation, with a birth weight
of 2600 grams and an unknown Apgar score.
At 3 weeks of age a systolic murmur was noticed and the first echocardiography performed
diagnosed: ASD (atrial septal defect),
perimembranous VSD (ventricular septal defect),
small sized left ventricle (LV) ascending aorta,
hypoplastic descending aorta, biventricular hypertrophy and pericarditis. The above description suggested a hypoplastic left heart syndrome.
The mother “forgot” about recommendations.
At present admission, the baby is referred
for fever, intense dyspnea and tachypnea. His
weight is 6100 gr (IP = 0.85), his height 66 cm.
His general condition is altered: sleepy, pale,
cold extremities, O2 Sat = 90%, with intense
dyspnea, tachypnea, intercostal retractions,
wheezing, bronchial rales, basal crepitations
over both lung bases, respiratory rate RR = 40/
min, HR = 150/min, precordial holosystolic
murmur III/VI, blood pressure (BP) right arm
= 122/88 mmHg (> percentile 99), BP right
leg = 87/74 mmHg, weak peripheral pulse,
hepatosplenomegaly.
Hematology and biochemistry investigations
are within normal ranges (WBC 4,830/mm3,
HGB 11.5 g/dl, RBC 4,210,000/mm3, HCT
33.2%, PLT 184,000/mm3, seric creatinine 0.5
FIGURE 1. Cardiomegaly. Signs of of pulmonary
venous congestion. Pulmonary – accentuated
interstitium with mild hyperinflation.
256
Mædica A Journal of Clinical Medicine, Volume 3 No.4 2008
mg/dl, seric urea 0.22 g/l, uric acid 2.41 md/dl,
AST 38 U/l, ALT 28 U/l, seric iron level 15 µg/l,
natrium 135 mmol/l, kalium 4.6 mmol/l, calcium 1.34 mmol/l, reactive C protein 0.03 mg/
dl).
Chest X ray revealed cardiomegaly with a
cardiac configuration suggestive for dilated right
chambers, accentuated interstitium with mild
hyperinflation. ‰
CARDIAC ULTRASOUND
EXAMINATION
z
z
z
z
Displastic, hyperchogenic mitral valve,
with mitral stenosis.
Dominant, hypertrophic postero inferior
papillary muscle.
Dysplastic aortic valve, with turbulent
flow. Bicuspid aortic valve.
Normal sized ascending and transverse
aorta (8 mm), with an istmic region of 4
mm diameter (color Doppler lumen
measurement ~1-2 mm), with turbulent
flow, maximum gradient at the narrowed
region ~ 90 mmHg; LV hypertrophy
(LVH), LV ejection fraction (FE) 40%. ‰
TREATMENT
A
fter an initial stabilization with medical
treatment: bronchodilators – for the respiratory disease, tonicardiac and diuretic associated with angiotensin conversion enzyme inhibitor for the cardiac symptoms, the baby underwent surgery at Heart Institute, Cluj Napoca.
The surgical diagnosis of narrowed aortic coarctation with an almost obstructive intraluminal diaphragm confirmed our cardiac ultrasound
data.
On follow-up at 1 and 2 years post surgery
(06.10.2007 and 27.11.2008) the baby is asymptomatic, with no important arterial hypertension, BP right arm – 105/75 mmHg/
06.10.2007 and 112/55 mmHg/27.11.2008
(> 95th percentile), BP right leg – 92/65 mmHg.
The echocardiographic examinations revealed
no signs of recoarctation, with maximal gradient of 25-29 mmHg, istmic aortic diameter 5.1
mm/one year after surgery and 7 mm/two years
after surgery, LVH, unchanged mitral valve aspect, and mildly increased maximal aortic valve
gradient.
The enalapril dose was increased, with BP
monitoring. ‰
INCOMPLETE FORM OF SHONE’ SYNDROME
FIGURE 2. ECG. Signs of right ventricular hypertrophy
FIGURE 3. Aspect of “saw teeth” on continuous Doppler interrogation from suprasternal view, with a
significant gradient, diagnostic for aortic coarctation.
Mædica A Journal of Clinical Medicine, Volume 3 No.4 2008
257
INCOMPLETE FORM OF SHONE’ SYNDROME
FIGURE 4. Turbulent flow in istmic region of the aorta.
Suprasternal view.
FIGURE 5. Posterior prominent papillary muscle.
Short axis papillary muscles view.
FIGURE 6. LVH at one year follow up examination.
FIGURE 7.
Residual systolic
gradient at one
year follow up
after surgery.
258
Mædica A Journal of Clinical Medicine, Volume 3 No.4 2008
INCOMPLETE FORM OF SHONE’ SYNDROME
DISCUSSION
T
he baby’s first cardiac ultrasound exami
nation suggested hypoplastic left heart syndrome with ASD and VSD. The second
echocardiographic examination diagnosed the
aortic coarctation associated to mitral stenosis,
single papillary muscle, aortic bicuspid valve and
aortic stenosis, suggestive for incomplete form
of Shone’s syndrome. Four cardiac defects define the Shone’s syndrome (3) (table 2). An incomplete form of Shone’s syndrome is defined
by less than four criteria (4). The syndrome represents 0.6% of all cardiac malformations with
a male: female ratio of 1.5:1 (5). The embryology of the defect consists of the abnormal
supravalve mitral membrane (SVMM), which
blocks the other left cardiac structures development. In the same time, the SVMM is thought
to be responsible for the poor prognosis (512). The general prognosis is also influenced
by the presence of other defects. Incomplete
forms have a better prognosis, being described
also in adult (13).
Shone’s syndrome clinical presentation
might be heterogeneous: small sized left ventricle, small mitral and/or aortic annulus, abnormal mitral valve apparatus and ascending
aorta were described in several studies. Although
bicuspid aortic valve is not a diagnostic criteria
formulated by Shone (3), it seems to be present
in a high percentages of cases (14).
FIGURE 8. Mild turbulent flow in the descending
aorta at two years follow up after surgery.
associated to congenital mitral stenosis: ASD,
VSD, valvular or subvalvular aortic stenosis, aortic coarctation, may complicate the evaluation
(15). The parasternal short axis view is important for papillary muscles visualization: number,
size, location and for parachute mitral valve detection. Deformity and thickening of the mitral
valve and restricted mitral leaflet excursion can
be observed in the parasternal long axis view (1).
TABLE 3. Diagnostic criteria in mitral stenosis
(1,2,16,17)
TABLE 2. Cardiac defects in Shone’s syndrome
DIFFERENTIAL DIAGNOSIS
Congenital mitral stenosis as an isolated
defect is infrequent, with a 0.5 – 1% incidence
in infants (15). Mitral stenosis evaluation in children is similar to adults (diagnostic criteria in
table 3). Many other abnormalities possibly
Aortic stenosis is rare in neonates, 2% of
the severe cardiac malformations, but its incidence increases with age. As mentioned before,
there are three levels of obstruction: subvalvular
(fixed or dynamic), valvular and supravalvular
(table 1). The relationship between hypertrophy, wall stress, and ventricular function dictates the natural history of aortic valve pathology (18,19). Evaluation of aortic stenosis in children and adults is similar (diagnostic criteria table
4). Aortic valves may appear normal at birth
and due to fibrosis and calcification it might become stenotic after a period. The bicuspid aor-
Mædica A Journal of Clinical Medicine, Volume 3 No.4 2008
259
INCOMPLETE FORM OF SHONE’ SYNDROME
tic valve is the most frequent congenital cardiac
malformation and is encountered in 1-2% of
general population (1).
TABLE 4. Diagnostic criteria in aortic stenosis
(1,2,16,17).
Coarctation of the aorta represents 5-8%
of all cardiac malformations (18,20).
It is classified in the following types:
– Preductal coarctation, proximal to the
ductus arteriosus (DA). This form may
be ductus dependent in its severe form.
It might be associated to Turner’s
syndrome.
– Ductal coarctation: at the insertion of the
DA. It is not present before the closing of
the DA.
– Postductal coarctation: distal to the
insertion of the DA. This type is more
common in adults, although in some
newborns it may generate very severe
disease (6).
In newborn and infant there are many other
cardiac anomalies associated (most frequent
with bicuspid aortic valve, mitral valve anomalies and ventricular septal defect – VSD, aortic
valve and subvalve stenosis, atrioventricular septal defects), while in adolescents are isolated
(1,2,18, 20).
The suprasternal approach represents the
best echocardiographic window to evaluate the
coarctation of the aorta. Concerning the 2D
examination most authors consider the high left
parasternal view with lateral angulation of the
probe towards the left shoulder (the ductal co-
TABLE 5. Diagnostic criteria for hypoplastic left heart
syndrome (21)
260
Mædica A Journal of Clinical Medicine, Volume 3 No.4 2008
arctation view) the best one, the suprasternal
being considered good especially for Doppler
examination due to the parallelism with the
blood flow (2). Indirect signs for coarctation of
the aorta are left or right ventricle hypertrophy,
absence of descending aorta pulsations. Persistent diastolic high-velocity flow has the significance of a severe stenosis. Dilatation and exaggerated pulsation of the proximal aortic arch are
indicative for significant aortic coarctation (1).
Diagnostic pitfalls in aortic coarctation
(1,2,18,20)
z
Inability of distal aortic arch visualization
can lead to false negative diagnosis.
z
Tangential imaging plane through the
vessel, may create the illusion of narrowing
z
Visualization of the aortic lumen beyond
the narrowing makes improbable the
false- positive diagnosis
z
Multiple lesions of the left heart are
indications for the expanded Bernoulli
equation: Dp=4 (v2²-v1²).
z
These can arrive from an improper beam
alignment.
z
The presence of a patent ductus
arteriosus (underestimation of pressure
gradient) might mask the aortic
coarctation and lead to a possible falsenegative diagnosis
z
A 1.5 -2 m/s velocity in the descending
aorta (normal acceleration around the
arch) can be false positive interpreted as
aortic coarctation in the absence of
turbulence or vessel narrowing
z
The ideal residual gradient after
decoarctation must be less than 20
mmHg.
Hypoplastic left heart syndrome (HLHS),
is characterized by the severe underdevelopment of the left side of the heart. Echocardiography features are listed in table 5. The blood
passes through an ASD into the right heart, it is
pumped by the right ventricle into the pulmonary artery, and through the patent ductus arteriosus into the systemic circulation. This is a
systemic ductal dependent disease; closing of
the ductus may lead to cardiogenic shock (5,21).
Important measurements on cardiac ultrasound are: the tricuspid regurgitant flow and
the ASD flow. The ductus arteriosus flow have
an opposite direction than usual from the pulmonary artery to the aorta.
INCOMPLETE FORM OF SHONE’ SYNDROME
Conclusion
1. Shone’s syndrome is a rare congenital cardiac malformation. The
incomplete forms are more frequent and have a better prognosis,
being described also in adult.
2. In the reported case an intervention for aortic coarctation was
followed by echocardiographic monitoring for post intervention
complications (recoarctation, mitral stenosis, aortic stenosis on
bicuspid aortic valve)
3. It is extremely important to notice all the cardiac abnormalities
associated to this disease in order to have a proper prognosis.
REFERENCES
1. Feigenbaum H, Armstrong WF,
Ryan T – Congenital Heart Diseases
in Feigenbaum’s Echocardiography,
6th Edition, Lippincott
Williams&Wilkins, Philadelphia,
2005; pag 559-634
2. Cetta F, Seward JB, O’Leary PW –
Echocardiography in Congenital Heart
Disease: An Overview in The Echo
Manual, 3rd Edition, Lippincott
Williams&Wilkins, Philadelphia,
2006; pag 332-367
3. Shone JD, Sellers RD, Anderson
RC, et al – The developmental
complex of parachute mitral valve,
supravalvular ring of the left atrium,
subaortic stenosis and coarctation of
the aorta. Am J Cardiol 1963; 11:714
4. Roche KJ, Genieser NB, Ambrosino
MM, et al – MR findings in Shone’s
complex of left heart obstructive
lesions. Pediatr Radiol. 1998 Nov;
28(11):841-845
5. Durmaz I, Büket S, Alayunt A, et al
– Shone Syndrome: Case Report. Türk
Kardiyol Dern Arº 1991; 19:0-0
6. www.wikipedia.com
7. Bolling SF, Iannettoni MD, Dick M
2nd et al – Shone’s anomaly:
operative results and late outcome.
Ann Thorac Surg. 1990 Jun; 49(6):887893
8. Brauner RA, Laks H, Drinkwater
DC Jr, et al – Multiple left heart
9.
10.
11.
12.
13.
14.
obstructions (Shone’s anomaly) with
mitral valve involvement: long-term
surgical outcome. Ann Thorac Surg.
1997 Sep; 64(3):721-729
Prunier F, Furber AP, Laporte J, et al
– Discovery of a parachute mitral
valve complex (Shone’s anomaly) in
an adult. Echocardiography. 2001
Feb;18(2):179-182
Radermecker MA, Massin M,
Grenade T, et al – Shone’s syndrome:
report of four cases and review of the
literature]. Rev Med Liege. 2001 Jul;
56(7):506-510
Noguchi Y, Naito Y, Fujiwara K, et
al – A case report of successful mitral
valve replacement for congenital
mitral stenosis associated with
coarctation of the aorta and ventricular septal defect] Kyobu Geka. 1999
Apr; 52(4):312-317
Ikemba CM, Eidem BW, Fraley JK,
et al – Mitral valve morphology and
morbidity/mortality in Shone’s
complex. Am J Cardiol. 2005 Feb 15;
95(4):541-543
Derrer F, Gisin S, Linka A et al –
Shone’s anomaly Fallbericht und
Hintergrund] Anaesthesist. 2005 Jan;
54(1):29-34
Zucker N, Levitas A, Zalzstein E –
Prenatal diagnosis of Shone’s
syndrome: parental counseling and
15.
16.
17.
18.
19.
20.
21.
clinical outcome. 2004 ISUOG.
Published by John Wiley & Sons, Ltd
Redington AN – Patologie della
valvola mitrale in Fisiopatologia e
Funzione ventricolare delle
cardiopatie in eta pediatrica.
Valutazione ecocardiografica. Piccin,
1997, Padova, pag. 246-256
Park MK – The pediatric cardiology
handbook, 3rd Edition, Mosby, St.
Louis, 2003
Ginghina C, Popescu BA, Jurcut R –
Esenialul in ecocardiografie, Editura
Medicala Antaeus, Bucuresti, 2005
Snider RA, Sewer GA, Ritter SB –
Echocardiography in Pediatric Heart
Disease, 2nd Edition, Mosby – Year
Book, 1997
Colan SD – Patologie della valvola
aortica in Fisiopatologia e Funzione
ventricolare delle cardiopatie in eta
pediatrica. Valutazione
ecocardiografica. Piccin, 1997,
Padova, pag. 219– 245
Calabro R, Pacileo G, Pisacane C, et
al – Coartazione aortica in
Fisiopatologia e Funzione ventricolare
delle cardiopatie in eta pediatrica.
Valutazione ecocardiografica. Piccin,
1997, Padova, pag. 199 – 218
Syamasundar Rao P, Turner DR,
Forbes TJ – Hypoplastic Left Heart
Syndrome. www.emedicine.com, last
updated Aug 15, 2006
Mædica A Journal of Clinical Medicine, Volume 3 No.4 2008
261