All posts in neonatal cardiology

Diagnosis, characterization and outcome of ccTGA

Diagnosis, characterization and outcome of congenitally
corrected transposition of the great arteries in the fetus:
a multicenter series of 30 cases
*Fetal Cardiology Unit, Department of Gynecology and Obstetrics, University Federico II of Naples and §Department of Pediatric Cardiology, 2nd University of Naples, Monaldi Hospital, Naples, †Department of Obstetrics and Gynecology, ‘‘Di Venere-Giovanni XXIII’’ Hospital and ¶Department of Medical Genetics, I.R.C.C.S. ‘‘Di Venere-Giovanni XXIII’’ Hospital, Bari and ‡Pediatric Cardiology,
I.R.C.C.S. Giannina Gaslini Hospital, Genoa, Italy


Objective To describe the anatomy, associated anomalies
and outcome of 30 cases of congenitally corrected
transposition of the great arteries (ccTGA) detected
Methods This was a retrospective observational study of
the 30 cases of ccTGA confirmed at autopsy or postnatal
echocardiography seen at one of three referral centers
from 1994 to 2003. The following data were considered:
gestational age at diagnosis, cardiac anatomy, associated
cardiac and extracardiac anomalies and fetoneonatal
outcome. All fetuses underwent fetal echocardiography
and a detailed anomaly scan, with follow-up scans at 3–4-
week intervals until delivery. The diagnosis was confirmed
at autopsy or after delivery. Follow-up data were retrieved
from the clinical files of the patients.
Results The mean gestational age at diagnosis was
25.5 weeks. Intracardiac defects associated with the
ccTGA included a ventricular septal defect in 21 cases,
pulmonary outflow obstruction in 12 cases, an abnormal
tricuspid valve in 10 cases, ventricular hypoplasia in five
cases and dextro/mesocardia in five cases. The karyotype
was normal in all 24 newborns, and unknown in the
cases which resulted in termination of pregnancy (n = 5)
or intrauterine death (n = 1). There were associated
extracardiac anomalies in four cases only. Three of the
four cases of atrioventricular block (AV block) developed
in the third trimester, while the fourth appeared after
birth. There were nine deaths (five terminations, two
perinatal deaths and two infant deaths). The remaining
21 (70%) newborns were alive at a median follow-up
time of 32 months, 11 of them after various surgical
Conclusions Our data suggest that in fetuses with ccTGA
the risk of chromosomal and extracardiac anomalies is
low, in accordance with postnatal data. The spectrum of
associated cardiac lesions is consistent with that reported
in the pediatric literature. These data may be of use during
prenatal counseling since no figures regarding survival
and/or outcome of ccTGA in the fetus have been reported
so far. 

Copyright 2006 ISUOG. Published by John Wiley & Sons, Ltd. Ultrasound Obstet Gynecol 2006; 27: 281–285
Published online in Wiley InterScience ()

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Familial Origin of Atrial Septal Aneurysm

Familial Origin of Atrial Septal Aneurysm
Ioannis A. Paraskevaidis, MDa,b,*, Dimitrios Tsiapras, MDa, Stamatis Kyrzopoulos, MDa,
and Dimitrios T. Kremastinos, MDb
The familial origin of atrial septal defects has been previously reported. This is the
first study describing 2 families with atrial septal aneurysm of familial origin. The
present study represents both clinically manifested and silent atrial septal aneurysms.
Moreover, female gender predominance is also reported. Based on the presented data
it could be suggested that all first-degree relatives of affected patients should be
screened by cross-sectional echocardiography, particularly if they are women. In
these patients, the use of aspirin might be the first line of treatment.

© 2006 Elsevier Inc. All rights reserved. (Am J Cardiol 2006;97:148 –150)

Aneurisma del setto interatriale di origine familiare
Ioannis A. Paraskevaidis, MDa,b *, Dimitrios Tsiapras, MDa, Stamatis Kyrzopoulos, MDa, e Dimitrios T. Kremastinos, MDb

L’ Aneurisma del setto interatriale di origine familiare è stato già descritto. Questo è il
prima studio che descrive 2 famiglie con aneurisma del setto interatriale di origine familiare.
Questo studio presenta gli aneurisma del setto interatriale sia clinicamente manifesto che silente.
E’ riportata inoltre la prevalenza nelle femmina . Basato sui dati presentati si potrebbe suggerire che tutti i parenti di primo-grado di pazienti affetti dovrebbero essere sottoposti a screening ecocardiografico, particolarmente se sono donne.
In questi pazienti, è probabile che l’uso di aspirina sia la prima linea di trattamento.

© 2006 Elsevier i tutti i diritti riservati di Inc.. (È J Cardiol 2006;97:148 -150)

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Williams-Beuren syndrome (WBS)

Williams-Beuren syndrome (WBS) is a multisystem genetic disorder caused by a microdeletion on chromosome 7. The majority of patients demonstrate cardiovascular pathology, most commonly supravalvular aortic and/or other vascular stenoses. Progressive stenosis can occur and, furthermore, ¨50% of WBS patients develop hypertension. Although the absolute risk for life-threatening cardiovascular complications is low, certain constellations of problems such as severe biventricular outflow disease increase the relative risk of adverse outcomes. Many additional medical problems complicate WBS such as feeding difficulties, colic and irritability, slow physical growth, abnormal dentition, constipation, and a variety of endocrine abnormalities. All patients with WBS have intellectual handicaps. Most patients function in the range of moderate mental retardation and also demonstrate a characteristic cognitive profile of strengths and weaknesses; notably most individuals with WBS develop anxieties and phobias. The typical, albeit subtle, facial dysmorpology of WBS in conjunction with one or more of the above problems should prompt fluorescence in situ hybridization (FISH) laboratory testing to confirm deletion of one copy of the elastin gene. Almost all WBS patients have the same size microdeletion on one chromosome 7 resulting in loss of one copy of ¨20 genes. The role these genes play in causing the complex WBS phenotype is actively being studied in several research laboratories.
Patients with WBS require long-term care and guidelines for medical management and anticipatory guidance are offered.


1] Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic
stenosis. Circulation 1961;24:1311– 8.

[2] Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in
association with mental retardation and certain facial appearance.

Circulation 1962;26:1235– 40.

[3] Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin
locus in a developmental disorder, Williams syndrome. Nat Genet
1993;5:11 –6.

[4] Stromme P, Bjornstad PG, Ramstad K. Prevalence estimation of
Williams syndrome. J Child Neurol 2002;17:269–71.

[5] Greenberg F. Williams syndrome professional symposium. Am J
Med Genet 1990;6:89– 96 [Suppl.].

[6] Grimm T, Wesselhoeft H. Zur Genetik des Willialms-Beuren-
Syndroms und der Ioslierten Form der Supravalvularen Aortenstenose
Untensuchungenvon 128 Familien. Z Kardiol 1980;69:168– 72.

[7] Burn J. Williams syndrome. J Med Genet 1986;23:389–95.

[8] Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL.
Natural history of Williams syndrome: physical characteristics. J
Pediatr 1988;113:318– 26.
Statural growth in Williams-Beuren syndrome. Eur J Pediatr 1992;
151:751– 5.

[9] Partsch CJ, Dreyer G, Gosch A, et al. Longitudinal evaluation of
growth, puberty, and bone maturation in children with Williams
syndrome. J Pediatr 1999;134:82– 9.

[10] Axelsson S, Bjornland T, Kjaer I, Heiberg A, Storhaug K. Dental
characteristics in Williams syndrome: a clinical and radiographic
evaluation. Acta Odontol Scand 2003;61:129–36.

[11] Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams
syndrome—oral presentation of 45 cases. Pediatr Dent
1994;16:262– 7.

[12] Klein AJ, Armstrong BL, Greer MK, Brown III FR. Hyperacusis and
otitis media in individuals with Williams syndrome. J Speech Hear
Disord 1990;55:339– 44.

[13] Greenberg F, Lewis RA. The Williams syndrome. Spectrum and
significance of ocular features. Ophthalmology 1988;95:1608– 12.

[14] Winter M, Pankau R, Amm M, Gosch A, Wessel A. The spectrum of
ocular features in the Williams-Beuren syndrome. Clin Genet
1996;49:28– 31.

[15] Kaplan P, Kirschner M, Watters G, Costa MT. Contractures in
patients with Williams syndrome. Pediatrics 1989;84:895–9.

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Workshop on Magnetic Resonance on CHD

2nd Workshop on :

Magnetic Resonance Imaging in Diagnosis and Management of Congenital Heart Disease
21-22 october 2005
CNR Institute of clinical Physiology
Sala Convegni – Via Aurelia Sud
Ospedale “G. Pasquinucci” Massa – Italy

Contact :
E.Donnini phone +39 0585 493 667
Internet :

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Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).

Digilio MC,1 Marino B,2 Capolino R,1 Dallapiccola B.3 Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome). Images Paediatr Cardiol 2005;23:23-34
1 Medical Genetics, Bambino Gesù Hospital, Rome, Italy
2 Pediatric Cardiology, Institute of Pediatrics, University “La Sapienza”, Rome, Italy
3 Experimental Medicine and Pathology, University “La Sapienza”, and CSS-Mendel Institute, Rome, Italy

Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present in 75% of patients with Del22. The most frequently seen cardiac malformations are “conotruncal” defects, including tetralogy of Fallot (TF), pulmonary atresia with ventricular septal defect (PA-VSD), truncus arteriosus (TA), interrupted aortic arch (IAA), and ventricular septal defect (VSD). The study of the specific “cardiac phenotype” in patients with Del22 shows that a particular cardiac anatomy can be identied in these subjects. In addition to CHD, various organ systems can be involved, so that a multidisciplinary approach is needed in the evaluation of patients with Del22.

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If you have congenital heart disease, print out this information and give it to your physician. You can also download a PDF version of the wallet card from AHA.

Antibiotic therapy must be practiced for prophylaxis of the bacterial endocarditis, every tyme the patient must be take surgical manipulations as of diagnostic or therapeutic type, as is indicated in the attached outline.


In transitory course of batteremia secondary to::

Dental procedures

  1. Dental extractions
  2. Periodontal procedures including surgery, scaling, and root planing, probing, and recall maintenance
  3. Endodontic (root canal) instrumentation or surgery only beyond the apex
  4. Subgingival placement of antibiotic fibers or strips
  5. Initial placement of orthodontic bands but not brackets
  6. Intraligamentary local anesthetic injections
  7. Prophylactic cleaning of teeth or implants where bleeding is anticipated

Respiratory tract

  1. Tonsillectomy and/or adenoidectomy
  2. Surgical operations or biopsy that involve respiratory mucosa
  3. Bronchoscopy with a rigid bronchoscope
  4. woven recording and water-drainage of infect

Genitourinary procedures

Gastronitestinal procedures

The bacteria transport from the blood can localize themselves on the valves or woven it damages to you near anatomical defects with outcome in bacterial endocarditis. That verification in the 30-50% of the children under the two years and in the 70-80% of the children from the 2 to the 15 years with congenital cardiopathy with risk differentiated in:

High Risk CHD for Bacterial Endocarditis

  1. Patent ducstus arteriosus
  2. Interventricular septal defects
  3. Stenosia or aortic coartaction
  4. Systemic-Pulmonaris anastomosis

Medium risk CHD for bacyerial Endocarditis

  1. Pulmonary and tricuspidalis Valvulopaties

Low risk CHD for Bacterial Endocarditis

  1. Interatrial septal defects
  2. Surgical corrected cardiac lesions.

Condition that they do not demand you outlined:

  1. Atrial septal defects operate without patch (after six months)
  2. Patent ductus after six months of closure.


DENTAL PROCEDURES WITH BLEEDING Of the GUMS (to extract a single tooth for sitting and to repeat you outlined it in case of multiple extractions)



  1. Penicillin V 1 g for os one hour before the prodedura and 500 mg six hours after the firsth dose begins


  1. Penicilina G 50,000 U/Kg. ev or im 30/60 min. before and 25,000 U/Kg. six hours after the first dose. In high risk is wanted to be obtained one the maximum protection can be associated
  2. Ampicillina 50 mg/kg/dose i.m. or i.v. and Gentamicina 2 mg/kg/dose.
    For the allergic patients to penicillin can use

  3. Eritromicina 20 mg/kg for the first dose and 10 mg/kg for the second dose or
    Vancomicina e.v. 20 mg/kg/dose.


  1. Ampicillina 50 mg/kg/dose i.m. o i.v. piu’ Gentamicina 2 mg/kg/dose
    30 min. before and 8 hours after


  1. Amoxicillina 50 mg/kg/dose and
  2. for penicilline allergic patients Vancomicina plus gentamicina

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Diastolic ductal steal in newborns with patent ductus ?arteriosus (PDA) ?may generate distrectual ischemia. The AA. propose a Doppler derived classification of five types of fluximetric patterns correlated semiquanitatively to the entity of ductal shunt wich may affect the clinical outcome and management.


Previous Doppler ultrasonographic studies on cerebral, caeliac, descending aorta and renal arteries, showed a decreased and sometimes retrograde diastolic blood flow in newborn infants with PDA. These alterations suggest that cerebral ischaemia, necrotizing enterocolitis or renal failure may be attributed ?to reduced diastolic perfusion of these organs (2,3,4,13,18,21,22).
A global systemic approach has not yet been applied in defining how many fluximetric patterns may be dued to PDA and ?wich ?one, may predict spontaneous versus terapeutic closure or ischaemic complications frequently associated with an important hemodynamic shunt).
The present report studies the blood flow velocity in cerebral, coeliac, mesenteric, renal, femoral and subclavian arteries, of term and preterm infants with echo-Doppler diagnosis of PDA. It aims at finding a semiquantitative classification of PDA and identifying the “hemodynamically significant” left-to-right shunt (6) for medical or surgical management.

From May 1988 to December 1989 we studied 68 newborn infants with Echo-Doppler diagnosis of PDA during the first 24 h of life (table I). ?40 full term infants (19 males and 21 females, gestational age (GA) 38-40 w.) had a birth weight (BW) ranging between 2950 and 4050 g (mean 3392 g ) and normal findings on physical examination ; all were free of cardiovascular diseases. 28 preterm infants (15 males
and 13 females , EG 28-37 w.) had a birth weight ranging between 950 and 2800 (mean 1970 g ). Four newborns were infants of diabetic mother (IDM), seven had respiratory ??distress sindrom (RDS) and all were free of cardiovascular diseases (NORMAL).

The newborn infants were included in this study when the Echo-Doppler diagnosis of PDA
were made in the first 24 hr of life. Doppler interrogation of femoral (FEM) and subclavian (SUB) arteries was made by a 5 Mhz stand-alone directional-sensitive Doppler device (Vingmed SD50) in continous or pulsed mode,?in the latter case with a sample volume of axial lenght4 mm and width 6 mm. 2D imaging and Doppler interrogation of ductus arteriosus and PUL, descending aorta (AOR), coeliac (CEL), mesenteric
(MES), renal (REN) and cerebral (CER) arteries were made by a 2D-Color Flow Mapping Sistem (Vingmed CFM 750), with a duplex probe of ?5 or 7.5 MHz for imaging and 4 or 6 ?MHz for Doppler. The sample volume was positioned on 2D sector image. All recordings ?were repeated in the 2nd and 5th days of life. Peak systolic and diastolic velocities ( S and D ) were ?measured ?on Doppler ?sonogram ; pulsatility index ( P.I.) was computed as SD/S. Diastolic reverse flow (DRF) was present ( = ?1 ) when diastolic shift was opposite to systolic shift, or absent ( = 0 ) for no reverse shift. As normal range of P.I. we considered data reported in literature (2,3,4,5,6)

All newborn infants had DRF in PUL at first examination (EXA) made between 6-24 hr (mean 16 Hr). Clinical, fluximetric data and results are included in table I. 13 term infants had DRF in AOR ( 3 at first EXA and 10 at second ), 2 in CEL and REN and 1 in FEM, SUB and CER arteries. The P.I. was in normal range 0.61 +/- 0.10. The ductus closed (CLOS.) spontaneously (SPONT.) in 38 at 2nd EXA, in one by indomethacin
(INDOM.) 0.2 mg/kg e.v three doses e.v. at ?3rd EXA and in another one chirurgically ?(CHIRUR.) after the 3rd EXA. 22 preterm infants had DRF in AOR, 9 in CEL, MES and REN , 6 in FEM and SUB, 4 in CER arteries. The P.I. was above ?the ?normal range ( 0.87 +/- 0.15 ). The ductus closed SPONT. in 19 at 2nd EXA while in 4 closed by INDOM. e.v. and in 4 CHIRUR. respectively at 2nd and after the 3rd EXA

Neonatal care, in the past decade, improved so much to led to a marked increase in survival of critical newborn infants ?with associated PDA. An important left-to-right shunting through a PDA was considered as a common cause of serious morbidity. Earlier observations, using echo-Doppler, founded a PDA during the first 12 h of life in the majority of the infants ( from 20 % to 80% of infants without heart diseases
(5,7). This discrepancy as assessed by stand-alone Doppler or 2D imaging and by other methods is obvious. In fact if we examine the infants in the first 6 h of life with a duplex scanner with CW,PW Doppler and a color flow mapping, a PDA is present in 100% of them: this means that the problem is not to diagnose the patency of the ductus but to quantify the shunt necessitating medical o surgical management (1,12,15,17,19,20,21,).
The consensus of National Collaborative Study on Patent Ductus Arteriosus in premature infants for evaluating the role of indomethacin in the management of small premature infants, was to treat infants with a “significant ductus arteriosus” defined on clinical criteria and X-ray cardiomegaly and echocardiographic A/AO ratio > 1.15 (6). Drayton (5) evaluated the ductal flow, subtracting ?flow measured with Doppler above and just below the origin of the ductus and found that a greater ductal flow than 70 ml/kg/min at 48 hours of age predicted the subsequent development of a ductal murmur with a 75% sensitivity and 100% specificity. Doppler quantification of flow has got well defined and known limits (20).In this study we consider the extension of DRF directly
correlated to the entity of ductal shunt and classify it in a very small shunt when DRF is only in PUL or small, moderate, moderate-severe ?and ?
severe if DRF is ?present ?respectively ?in AOR,REN,FEM ?and CER arteries. We name this fluximetric patterns Type I, II, III, IV and V (FIG.1). We consider types IV and V as “hemodynamically significant” shunts.
Types I and II currently and type III frequently close spontaneously during the first 48 h of life ; type III rarely and types IV and V currently necessitate respectively medical or/and surgical treatment.It’s important waiting for 48 hours at least,when pulmonary resistences normalize, for evaluating the real entity of ductal shunt. In this waiting time we use to treat the infants only with a reduced intake of fluid
thereafter, when there aren’t contraindications and the ductus is still patent, we start INDOM. ?0.2 mg/kg e.v. three times every 12 hours. When Indomethacin fails, surgical closure is the rule (8,9,11,14,16,19,20).

The Doppler classification that we propose to quantify ductal left-to-right shunt is an objective base for the management of newborn infants with PDA : it is simple, noninvasive and repeatable. Further investigations have to convalidate these our preliminary data.

Correspondence to : S.Gerboni M.D.

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Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia :
Echocardiographic Findings in Patients

Meeting Task Force Criteria for Arrhythmogenic Right Ventricular Dysplasia
New Insights From the Multidisciplinary Study of Right Ventricular Dysplasia

Danita M. Yoerger, MD,* Frank Marcus, MD,† Duane Sherrill, PHD,† Hugh Calkins, MD,‡
Jeffery A. Towbin, MD,§ Wojciech Zareba, MD, PHD, Michael H. Picard, MD,*

for the
Multidisciplinary Study of Right Ventricular Dysplasia Investigators
Boston, Massachusetts; Tucson, Arizona; Baltimore, Maryland; Houston, Texas; and Rochester, New York


The purpose of this study was to quantify the echocardiographic abnormalities in probands
who were newly diagnosed with arrhythmogenic right ventricular dysplasia (ARVD).
BACKGROUND The diagnosis of ARVD remains challenging. The Multidisciplinary Study of Right
Ventricular Dysplasia was initiated to characterize the cardiac structural, clinical, and genetic
aspects of ARVD.

Detailed echocardiograms were performed in 29 probands and compared with echoes from 29
normal control patients matched for age, gender, body size, and year of echo. Right atrial
(RA) and right ventricular (RV) chamber dimensions, RV regional function, and the presence
of morphologic abnormalities (hyper-reflective moderator band, trabecular derangement, and
sacculations) were assessed. The RV systolic function was calculated as RV fractional area
change (FAC).

The RV dimensions were significantly increased, and RV FAC was significantly decreased in
probands versus control patients (27.2  16 mm vs. 41.0  7.1 mm, p  0.0003).
The right ventricular outflow tract (RVOT) was the most commonly enlarged dimension in
ARVD probands (37.9  6.6 mm) versus control patients (26.2  4.9 mm, p  0.00001).
A RVOT long-axis diastolic dimension 30 mm occurred in 89% of probands and 14% of
controls. The RV morphologic abnormalities were present in many probands (trabecular
derangement in 54%, hyper-reflective moderator band in 34% and sacculations in 17%) but
not in controls.

Probands with ARVD have significant RA and RV enlargement and decreased RV function,
which can be easily assessed on standard echocardiographic imaging. These parameters
should be measured when ARVD is suspected and compared with normal values.

Journal of the American College of Cardiology Vol. 45, No. 6, 2005
© 2005
by the American College of Cardiology Foundation ISSN 0735-1097/05/$30.00
Published by Elsevier Inc. doi:10.1016/j.jacc.2004.10.070

Criteria for Diagnosis of Right Ventricular Dysplasia (1)

I. Global and/or regional dysfunction and structural alterations*

  • Major
    • Severe dilatation and reduction of right ventricular ejection fraction
      with no (or only mild) left ventricular impairment
    • Localized right ventricular aneurysms (akinetic or dyskinetic areas
      with diastolic bulging)
    • Severe segmental dilatation of the right ventricle
  • Minor
    • Mild global right ventricular dilatation and/or ejection fraction
      reduction with normal left ventricle
    • Mild segmental dilatation of the right ventricle
      Regional right ventricular hypokinesia

II. Tissue characterization of wall

    • Fibrofatty replacement of myocardium on endomyocardial biopsy

III. Repolarization abnormalities

  • Minor
    • Inverted T waves in right precordial leads (V2 and V3) in people
      age 12 yrs, in absence of right bundle branch block

IV. Depolarization/conduction abnormalities

  • Major
    • Epsilon waves or localized prolongation (110 ms) of the QRS
      complex in right precordial leads (V1–V3)
  • Minor
    • Late potentials (signal-averaged ECG)

V. Arrhythmias

  • Minor
    • Left bundle branch block type ventricular tachycardia (sustained
      and nonsustained) by ECG, Holter, or exercise testing
      Frequent ventricular extrasystoles (1,000/24 h) (Holter)

VI. Family history

  • Major
    • Familial disease confirmed at necropsy or surgery
  • Minor
    • Family history of premature sudden death (35 yrs) due to
      suspected right ventricular dysplasia
    • Familial history (clinical diagnosis based on present criteria)

Arrhythmogenic right ventricular dysplasia diagnosis: two major criteria or one major
and two minor criteria, or four minor criteria. *Detected by echocardiography,
angiography, magnetic resonance imaging, or radionuclide scintigraphy.
ECG  electrocardiogram.

(1) – McKenna WJ, Thiene G, Nava A, et al.
Diagnosis of arrhythmogenic
right ventricular dysplasia/cardiomyopathy.
Task Force of the Working
Group Myocardial and Pericardial Disease of the European
Society of Cardiology and of the Scientific Council on Cardiomyopathies
of the International Society and Federation of Cardiology. Br
Heart J 1994;71:215– 8.

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