All posts in neonatal cardiology

Berry Syndrome, a Complex Aortopulmonary Malformation

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;49:108–16.
  • 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;58:1529–32.
  • 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;64:1167–9
  • Sano S, Mee RBB. Isolated myocardial perfusion during arch repair. Ann Thorac Surg 1990;49:970–2.
  • 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; 58:543–5.
  • 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;34:108–10.
  • Kitagawa T, Katoh I, Taki H, et al. New operative method for distal aortopulmonary septal defect. Ann Thorac Surg 1991;51:680–2.
  • 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.
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    Criss-cross heart or upstairs downstairs heart.

    Criss-cross heart or ‘upstairs–downstairs’ 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
    resonance imaging.

    Key points

    • 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 ‘upstairs–downstairs’

    • to image the two valves and ventricles,
      the transducer must be tilted and a careful ‘sweep’
      (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
      inflow tracts.

    • if this spatial arrangement of the inlets is not
      appreciated during live scanning, the echocardiographic
      views may be misinterpreted, leading to an incorrect
      sequential diagnosis.

    • 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.


    1. 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: 216–263.

    2. 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:

    3. Abdullah M, Yoo SJ, Hornberger L. Fetal echocardiographic
      features of twisted atrioventricular connections. Cardiol Young
      2000; 10: 409–412.

    4. Duncan WJ, Wong KK, Freedom RM. A criss-cross heart with
      twisted atrioventricular connections, ‘perfect streaming’, and
      double discordance. Pediatr Cardiol 2006; 27: 604–607.

    5. 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: 114–118.

    6. Fontes VF, de Souza JA, Pontes Junior SC. Criss-cross heart
      with intact ventricular septum. Int J Cardiol 1990; 26:

    7. Alday LE, Juaneda E. Superoinferior ventricles with criss-cross
      atrioventricular connections and intact ventricular septum.
      Pediatr Cardiol 1993; 14: 238–241.

    8. Robinson PJ, Kumpeng V, Macartney FJ. Cross sectional
      echocardiographic and angiocardiographic correlation in criss
      cross hearts. Br Heart J 1985; 54: 61–67.

    9. Igarashi H, Kuramatsu T, Shiraishi H, Yanagisawa M. Crisscross
      heart evaluated by colour Doppler echocardiography
      and magnetic resonance imaging. Eur J Pediatr 1990; 149:

    10. Danielson GK, Tabry IF, Ritter DG, Fulton RE. Surgical repair
      of criss-cross heart with straddling atrioventricular valve.
      J Thorac Cardiovasc Surg 1979; 77: 847–851.

    11. N. NGEH*†, O. API*†, A. IASCI*†, S. Y. HO* and J. S. CARVALHO*†.
      Criss-cross heart: report of three cases with double-inlet
      ventricles diagnosed in utero – Ultr.Obstet Gynecol 2008; 31: 461–465.

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    New Guidelines from the AHA on prevention of Infective Endocarditis

    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.

    page free_view from
    Circulation AHA Journal

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    Cardiogenesis and Congenital Cardiopathies

    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

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    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
    closure technique.

    You can find the program of the teaching course as well as the registration form
    on AEPC web page ( ) 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

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    Aorto-ventricular tunnel

    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

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    Cantrell's pentalogy

    Cantrell’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 cordis—4 thoracic
    and 9 thoracoabdominal—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.


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    associated midline anomalies: a possible ventral midline
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    Cardiol Young 12:71–74
  • 8. Hornberger LK, Colan SD, Lock JE, et al. (1996) Outcome
    of patients with ectopia cordis and significant intra-cardiac
    defects. Circulation 94:II32–II37
  • 9. Jochems L, Jacquemyn Y, Blaumeiser B (2004) Prenatal
    diagnosis of pentalogy of Cantrell: a case report. Clin Exp
    Obstet Gynecol 31:141–142
  • 10. Kawabata I, Takahashi Y, Iwagaki S, et al. (2003) MRI
    during pregnancy. J Perinat Med 31:449–458
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    Fetal Neonatal Med 15:85–94
  • 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 10:137–139
  • 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 14:273–291
  • 15. Song A, McLeary MS (2000) MR imaging of pentalogy of
    Cantrell variant with an intact diaphragm and pericardium.
    Pediatr Radiol 30:638–639
  • 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
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    Shaji C Menon, MD,1Patrick W O’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, Children’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 22—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
    Surgery—2006 AAP National Conference and Exhibition
    Congenit Heart Dis. 2006;1:257–277

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