Berry Syndrome, a Complex Aortopulmonary Malformation
Prenatal diagnosis by fetal echocardiography
a spotlight by s. gerboni
Berry syndrome is a rare association of distal aortopulmonary window (APW), aortic origin of the right pulmonary artery (RPA), intact ventricular septum, patent ductus arteriosus, and interrupted or hypoplastic aortic arch. Since the original description in 1982 was considered a specific syndrome rather than a random coincidence.
The constellation of aortic origin of the right aortopulmonary window has been attributed to the pulmonary artery, aortopulmonary septal defect, diminished blood flow into the right pulmonary artery hypoplasia or interruption of the aortic isthmus, and during fetal life. Being surgically correctable, patent ductus arteriosus was described by Berry in preoperative recognition of all these cardiovascular syndrome is mandatory Only a few neonatal cases have been reported and scattered reports in the literature have confirmed the possibility of correcting surgically this complex malformation Recently Matsubara et all report the first case of a successful prenatal diagnosis of Berry syndrome. Given its complexity and rarity, the disease has not been previously diagnosed by prenatal echocardiography. In the case of Matsubara, found that a characteristic feature of the APW was that the origins of the left and right pulmonary arteries were separated in the three-vessel view on echocardiography.
In Berry syndrome, postnatal pulmonary hypertension or ductus arteriosus closure can lead to high mortality. A few cases have been reported with favorable outcomes due to improved postnatal diagnosis and surgical techniques but we can believe that the chance of achieving a good outcome is improved by a correct preoperative as well an accurate prenatal diagnosis.This is the key to improving the outcome, including avoiding pulmonary hypertension and heart failure.
Berry TE, Bharati S, Muster AJ, et al. Distal aortopulmonary septal defect, aortic origin of the right pulmonary artery,
intact ventricular septum, patent ductus arteriosus and hypoplasia of the aortic isthmus: a newly recognized syndrome.
Am J Cardiol 1982;49:108â€“16.
Matsubara Y, Ota M, Bito A, Katayama T, Matsubara K, Ito M.: Prenatal diagnosis of Berry syndrome by fetal echocardiography Ultrasound Obstet Gynecol. 2010 Jan 26
Chiu I, Wang J, Wang M, Wang C. One-stage repair of aortopulmonary septal defect and interrupted aortic arch.
Ann Thorac Surg 1994;58:1529â€“32.
Pietro A. Abbruzzese, MD, Maurizio Merlo, MD, Enrico Chiappa, MD, Renzo Bianco, MD, Federica Ferrero,
MD, and Carlo M. Cappone, MDBerry Syndrome, a Complex Aortopulmonary Malformation: One-Stage Repair in a Neonate
Ann Thorac Surg 1997;64:1167â€“9
Sano S, Mee RBB. Isolated myocardial perfusion during arch repair. Ann Thorac Surg 1990;49:970â€“2.
Burke RP, Rosenfeld HM. Primary repair of aortopulmonary septal defect, interrupted aortic arch and anomalous
origin of the right pulmonary artery. Ann Thorac Surg 1994; 58:543â€“5.
Boonstra PW, Talsma M, Ebels T. Interruption of the aortic arch, distal aortopulmonary window, arterial duct and aortic origin of the right pulmonary artery in a neonate: report of a case successfully repaired in a one-stage operation. Int J Cardiol 1992;34:108â€“10.
Kitagawa T, Katoh I, Taki H, et al. New operative method for distal aortopulmonary septal defect. Ann Thorac Surg 1991;51:680â€“2.
Alborino D, Guccione P, Di Donato R, Marino B. Aortopulmonary window coexisting with
tetralogy of Fallot. J Cardiovasc Surg 2001;42:197-199.
Kuehn A, Oberhoffer R, Vogt M, Lange R, Hess J. Aortopulmonary window with
ventricular septal defect and pulmonary atresia: prenatal diagnosis and successful early
surgical correction. Ultrasound Obstet Gynecol 2004;24:793-796.
Park SY, Joo HC, Youn YN, Park YH, Park HK. Berry syndrome: two cases of successful
surgical repair. Circ J 2008;72:492-495.
Criss-cross heart or â€˜upstairsâ€“downstairsâ€™ heart.
Review by S.Gerboni
Lev and Rowlatt in 1961 described unusual arrangement of the cardiac inlets :
ventricular chambers arranged in a superoinferior fashion,
with the RV superiorly and the LV inferiorly located.
The term Criss-cross heart,was introduced by Anderson et al. in
1974, defined as crossing of the long axes of the AV valves.
Criss-cross heart is a rare abnormality,its frequency
is no more than eight per 1 000 000 and it accounts
for <0.1% of congenital heart defects.
The morphological spectrum of hearts with crossed
AV relationships includes a wide variety of segmental
arrangements. Usually, the venoatrial connections are
normal, and the AV connections are either concordant or
discordant (biventricular). The ventricular chambers are
arranged characteristically in a superoinferior fashion,
with the RV superiorly and the LV inferiorly located.
Most commonly the VA connection is DORV and
less often discordant. Associated anomalies include
RV hypoplasia, straddling and/or overriding of the
AV valves, and subaortic or subpulmonary stenosis.
Rarely, criss-cross hearts have been described with
an intact ventricular septum. Postnatal presentation
varies and may include cyanosis, heart failure or a
murmur, depending on the full sequential diagnosis and
associated abnormalities. The diagnosis can be established
by echocardiography, angiocardiography and magnetic
- It appears to be an isolated cardiac finding with no associated extracardiac
or chromosomal abnormalities.
- usually have biventricular AV connections.
- criss-cross relationship with doubleinlet ventricles is rarely recognized.
- the diagnosis should be suspected when the parallel
arrangement of the AV valves and ventricular inlets cannot
be achieved, and the two valves are not easily visualized
- the clue to diagnosis is the inability
to image flow across the two AV valves in the same
plane or in the straight transverse cut through the fetal
chest owing to the unusual superoinferior relationship
of the ventricles, also called the â€˜upstairsâ€“downstairsâ€™
- to image the two valves and ventricles,
the transducer must be tilted and a careful â€˜sweepâ€™
(posteroinferior to anterosuperior) allows the operator
to appreciate this rare spatial relationship of the AV
valves, with axes of openings that are not in parallel,
but across one another. Their imaging requires different
ultrasound planes in order to demonstrate the twisted AV
- if this spatial arrangement of the inlets is not
appreciated during live scanning, the echocardiographic
views may be misinterpreted, leading to an incorrect
- color flow mapping can help in assessing the AV connection as this allows
visualization of the relative direction of intracardiac blood flows and
facilitates recognition of the crossover of the inflow
- Surgical options vary according to the exact sequential
segmental analysis and associated abnormalities. In
general, however, a univentricular repair is required,
owing to significant AV valve straddling, even with
two good size ventricles.
- This is very important in prenatal counceling.
- Lev M, Rowlatt UF. The pathologic anatomy of mixed
levocardia. A review of thirteen cases of atrial or ventricular
inversion with or without corrected transposition. Am J Cardiol
1961; 8: 216â€“263.
- Anderson RH, Shinebourne EA, Gerlis LM. Criss-cross atrioventricular
relationships producing paradoxical atrioventricular
concordance or discordance. Their significance to nomenclature
of congenital heart disease. Circulation 1974; 50:
- Abdullah M, Yoo SJ, Hornberger L. Fetal echocardiographic
features of twisted atrioventricular connections. Cardiol Young
2000; 10: 409â€“412.
- Duncan WJ, Wong KK, Freedom RM. A criss-cross heart with
twisted atrioventricular connections, â€˜perfect streamingâ€™, and
double discordance. Pediatr Cardiol 2006; 27: 604â€“607.
- Carminati M, Valsecchi O, Borghi A, Balduzzi A, Bande A,
Crupi G, Ferrazzi P, Invernizzi G. Cross-sectional echocardiographic
study of criss-cross hearts and superoinferior ventricles.
Am J Cardiol 1987; 59: 114â€“118.
- Fontes VF, de Souza JA, Pontes Junior SC. Criss-cross heart
with intact ventricular septum. Int J Cardiol 1990; 26:
- Alday LE, Juaneda E. Superoinferior ventricles with criss-cross
atrioventricular connections and intact ventricular septum.
Pediatr Cardiol 1993; 14: 238â€“241.
- Robinson PJ, Kumpeng V, Macartney FJ. Cross sectional
echocardiographic and angiocardiographic correlation in criss
cross hearts. Br Heart J 1985; 54: 61â€“67.
- Igarashi H, Kuramatsu T, Shiraishi H, Yanagisawa M. Crisscross
heart evaluated by colour Doppler echocardiography
and magnetic resonance imaging. Eur J Pediatr 1990; 149:
- Danielson GK, Tabry IF, Ritter DG, Fulton RE. Surgical repair
of criss-cross heart with straddling atrioventricular valve.
J Thorac Cardiovasc Surg 1979; 77: 847â€“851.
- N. NGEH*â€ , O. API*â€ , A. IASCI*â€ , S. Y. HO* and J. S. CARVALHO*â€ .
Criss-cross heart: report of three cases with double-inlet
ventricles diagnosed in utero – Ultr.Obstet Gynecol 2008; 31: 461â€“465.
New Guidelines from the American Heart Association on prevention of Infective Endocarditis
Extensively analysis of literature on procedure-related bacteriemia and infective endocarditis, results of profilactic studies in animals, and retrospective and prospective studies of the prevention of infective endocarditis.
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Circulation AHA Journal
Course in Cardiogenesis and Congenital Cardiopathies :
From Developmental Models to Clinical Applications
June 7th-10th 2008
G.Levi & A.McKusik EuroMediterranean Center for Genetics & Medicine
Bologna ( Italy)
For details,programme and registration please visit the Courses section of the EGF website
This 2-day course consists of lectures and interactive case discussions
focusing on the most up-to-date aspects of paediatric cardiac
catheterisation and interventional techniques. A SIM-SUITE catheter
simulation system will be available for practical teaching on PFO/ASD
You can find the program of the teaching course as well as the registration form
on AEPC web page (www.aepc.org ) at
AEPCTeaching Courses for Trainees
Registation fee is low and accomodation expenses are
covered by AB Medica. Please forward this mail to all your junior doctors
interested in pediatric cardiac catheterisation. !! To optimize the
interactions between speakers and participants, ONLY THE FIRST 30
registrations will be accepted.
COURSE ORGANISERS: Mario Carminati and Caroline Ovaert, on behalf of the
Interventional WG, AEPC (with the help of AB Medica)
For more information please contact Caroline Ovaert
Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle. The exact incidence is unknown, estimates ranging from 0.5% of fetal cardiac malformations to less than 0.1% of congenitally malformed hearts in clinico-pathological series. Approximately 130 cases have been reported in the literature, about twice as many cases in males as in females. Associated defects, usually involving the proximal coronary arteries, or the aortic or pulmonary valves, are present in nearly half the cases. Occasional patients present with an asymptomatic heart murmur and cardiac enlargement, but most suffer heart failure in the first year of life. The etiology of aorto-ventricular tunnel is uncertain. It appears to result from a combination of maldevelopment of the cushions which give rise to the pulmonary and aortic roots, and abnormal separation of these structures. Echocardiography is the diagnostic investigation of choice. Antenatal diagnosis by fetal echocardiography is reliable after 18 weeks gestation. Aorto-ventricular tunnel must be distinguished from other lesions which cause rapid run-off of blood from the aorta and produce cardiac failure. Optimal management of symptomatic aorto-ventricular tunnel consists of diagnosis by echocardiography, complimented with cardiac catheterization as needed to elucidate coronary arterial origins or associated defects, and prompt surgical repair. Observation of the exceedingly rare, asymptomatic patient with a small tunnel may be justified by occasional spontaneous closure. All patients require life-long follow-up for recurrence of the tunnel, aortic valve incompetence, left ventricular function, and aneurysmal enlargement of the ascending aorta.
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A complete review to
Orphanet Journal of Rare Diseases 2007, 2:41doi
Cantrellâ€™s pentalogy, first described in 1958, consists of
a lower sternal defect, anterior diaphragmatic defect,
parietal pericardial defect, omphalocoele, and herniation
of the heart . Ectopia cordis describes the herniation
or extrusion of the heart, which may occur
through either the thorax or the thoracoabdominal
region. The hypothesis underlying this condition is
abnormal development of the mesoderm at a very
early stage in embryonic life, occurring prior to or
immediately after differentiation of the primitive intraembryonic
mesoderm into its splanchnic and somatic
layers, since derivatives of both these layers are involved.
To date, there have been no etiologic factors
elucidated for this lesion. At approximately the
10th week of embryological life, the midgut, which had
previously been extraabdominal, returns to the
abdominal cavity and undergoes rotation followed by
fixation. The final structure of the abdominal wall is
made up of five distinct body folds that fuse at the base
of the umbilical cord. Failure of growth and fusion of
the cephalic fold results in either isolated ectopia cordis
or the pentalogy of Cantrell or one of its variants.
In a report of 13 cases of ectopia cordisâ€”4 thoracic
and 9 thoracoabdominalâ€”10 infants survived to term.
There were 5 long-term survivors, each of whom
had significant cardiac diagnoses, including doubleoutlet
right ventricle in 2 patients, hypoplastic left
ventricle in association with conoventricular septal
defects in 2 patients, and tetralogy of Fallot with pulmonary
atresia in 1 patient. Interestingly, all survivors
had isolated ectopia cordis with no significant extrathoracic
Prenatal diagnosis of pentalogy of Cantrell is most
common using ultrasound and has been extensively reported.
Fetal MRI has been reported recently.
1. Baker ME, Rosenberg ER, Trofatter KF, et al. (1984) The in
utero findings in twin pentalogy of Cantrell. J Ultrasound
2. Cantrell JR, Haller JA, Ravitch MM (1958) A syndrome of
congenital defects involving the abdominal wall, sternum,
diaphragm, pericardium and heart. Surg Gynecol Obstet
3. Carmi R, Boughman JA (1992) Pentalogy of Cantrell and
associated midline anomalies: a possible ventral midline
developmental field. Am J Med Genet 42:90â€“95
4. Coakley FV, Glenn OA, Qayyum A, et al. (2004) Fetal MRI:
a developing technique for the developing patient. Am J
5. DiBernardo S, Sekarski N, Meijboom E (2004) Left ventricular
diverticulum in a neonate with Cantrell syndrome.
6. Ghidini A, Sirtori M, Romero R, et al. (1988) Prenatal
diagnosis of pentalogy of Cantrell. J Ultrasound Med 7:567â€“572
174 Pediatr Cardiol (2007) 28:172â€“175
7. Halbertsma FJ, van Oort A, van der Staak F (2002) Cardiac
diverticulum and omphalocele: Cantrellâ€™s pentalogy or syndrome.
Cardiol Young 12:71â€“74
8. Hornberger LK, Colan SD, Lock JE, et al. (1996) Outcome
of patients with ectopia cordis and significant intra-cardiac
defects. Circulation 94:II32â€“II37
9. Jochems L, Jacquemyn Y, Blaumeiser B (2004) Prenatal
diagnosis of pentalogy of Cantrell: a case report. Clin Exp
Obstet Gynecol 31:141â€“142
10. Kawabata I, Takahashi Y, Iwagaki S, et al. (2003) MRI
during pregnancy. J Perinat Med 31:449â€“458
11. Levine D (2004) Fetal magnetic resonance imaging. J Matern
Fetal Neonatal Med 15:85â€“94
12. Liang RI, Huang SE, Chang FM (1997) Prenatal diagnosis of
ectopia cordis at 10 weeks of gestation using two-dimensional
and three-dimensional ultrasonography. Ultrasound
Obstet Gynecol 10:137â€“139
13. Oka T, Shiraishi I, Iwasaki N, et al. (2003) Usefulness of
helical CT angiography and MRI in the diagnosis and
treatment of pentalogy of Cantrell. J Pediatr 142:84
14. Robson CD, Barnewolt CE (2004) MR imaging of fetal head
and neck anomalies. Neuroimaging Clin North Am 14:273â€“291
15. Song A, McLeary MS (2000) MR imaging of pentalogy of
Cantrell variant with an intact diaphragm and pericardium.
Pediatr Radiol 30:638â€“639
16. Toyama WM (1972) Combined congenital defects of the
anterior abdominal wall, sternum, diaphragm, pericardium,
and heart: a case report and review of the syndrome. Pediatrics
50:778â€“792 Pediatr Cardiol (2007) 28:172â€“175 175
FETAL AND NEONATAL PRESENTATION OF NON-COMPACTED VENTRICULAR
MYOCARDIUM: EXPANDING THE CLINICAL SPECTRUM.
Shaji C Menon, MD,1Patrick W Oâ€™Leary, MD,1 Gregory B Wright, MD,4 Rodrigo Rios, MD,2 Susan G MacLellan-Tobert, MD,3
Allison K Cabalka, MD.1
1Departments of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology,
Mayo Clinic, Rochester, MN; 2Pediatric Cardiology, MeritCare Broadway, Fargo, ND; 3Pediatric Cardiology,
Gundersen Lutheran Medical Center, LaCrosse, WI; 4Department of Pediatric Cardiology, Childrenâ€™s Hospital and
Clinics of Minnesota, St. Paul, MN.
Purpose: Noncompaction of the ventricular myocardium (NCVM) is a rare cardiomyopathy characterized by
numerous, prominent trabeculations and deep intertrabecular recesses caused by arrest in myocardial embryogenesis.
This study reviews our experience with neonatal and fetal NCVM. In contrast to the past reports of fetal and
neonatal NCVM, all pts in this group improved, and survived infancy.
Methods: We reviewed data from 6 consecutive fetus and or neonates with NCVM to elucidate aspects of diagnosis,
clinical presentation and outcome.
Results: Five of 6 pts were diagnosed by fetal echo at 22â€”25 wks gestation. Two were males, 5 of 6 had biventricular
NCVM. Left ventricular enlargement (or hypertrophy) with decreased ejection fraction (EF) was evident in
all pts at presentation. Inotropes were required in 3 pts postnatally. One fetus had signs of severe cardiac failure and
was delivered at 27wks. Treatment included; diuretics, ACE inhibition, digoxin and beta-blockade. Mean EF at
presentation was 36% and improved to 57% at a mean follow up of 2 yrs. There have been no deaths. All showed
marked improvement in cardiac function and clinical status. One patient had a transient, late decrease in EF, which
improved with intensified therapy. Developmental delay was noted in 4 of 6 pts. Congenital cardiac anomalies were
noted in 3 pts, and 1 was found to have Barth syndrome. One pt had a father with Ebstein anomaly. No familial
cases of NCVM were identified.
Conclusion: Unlike previous studies, all 6 neonates, including the 3 requiring inotropic support, showed significant
early recovery of cardiac function. The majority of these newborns had biventricular involvement. NCVM should
be considered in the differential diagnosis of any fetus presenting with ventricular dysfunction in utero, especially
if ventricular wall thickening is present. However, the prognosis is not necessarily grim. Pts with NCVM may display
variable ventricular function; therefore it will be essential to continue cardiac follow up, even if function normalizes
for a time.
Abstracts 276 – Abstracts of the American Academy of Pediatrics Section on Cardiology and Cardiac
Surgeryâ€”2006 AAP National Conference and Exhibition
Congenit Heart Dis. 2006;1:257â€“277