A study of congenital cardiac disease in a neonatal population â€“ the validity of echocardiography undertaken by a neonatologist
Authors: Gregory R. Samson; Suresh R. Kumar
Source : Cardiology in the Young, December 2004, vol. 14, no. 6, pp. 585-593(9)
Publisher: Greenwich Medical Media
Objectives: To estimate the incidence of, and profile the spread of, congenital cardiac defects, and to assess the accuracy of the echocardiographic diagnosis as performed by a neonatologist. Design: Hospital-based study. Methods: All neonates meeting our criterions, specifically those with a persistent murmur 48 hours after birth, underwent an echocardiographic examination to exclude an underlying congenital cardiac defect. All scans performed by the neonatologist were videotaped and reviewed by a paediatric cardiologist. We assessed concordane according to inter-rater agreement. Results: Out of 11,085 live births, there were 83 infants with a congenital cardiac defect, giving an incidence of 7.49 per 1000 live births, with 95% confidence interval from 5.88 to 9.09. Of the infants with a murmur persisting at or greater than 48 hours after birth, who had a median age of 4.5 days, 75% had a congenital heart defect, with ventricular septal defect being the commonest, encountered in 56.7% of cases. Concordance between the neonatologist and the cardiologist was good, with Cohen’s Kappa coefficient being calculated at 0.68, and 95% confidence interval from 0.51 to 0.85. Conclusion: The incidence of congenital cardiac malformations as determined in our hospital-based study in the United Arab Emirates is similar to that described in the Gulf region and worldwide. A persistent murmur at or greater than 48 hours after birth is strongly suggestive of an underlying congenital cardiac malformation. Our experience shows that a neonatologist appropriately trained in echocardiography can perform as well as a paediatric cardiologist. Where specialist resources are limited, this allows for early diagnosis, earlier referral if necessary, and early institution of appropriate therapy.
Long QT syndrome (LQTS) is a disorder of cardiac repolarization. It is characterized by a prolongation of the QT interval, and a predisposition to ventricular tachyarrhythmias, which are associated with syncope, arrhythmic events, and sudden cardiac death (SCD). In recent years, there have been significant advances in understanding the genetic basis of the syndrome. Newer genetic forms of LQTS have been identified, too, plus a laboratory test has become available to help in the diagnosis of the syndrome. As knowledge of LQTS continues to expand, clinical applications of this growing body of information need further study
LQTS usually presents with cardiac events in childhood, adolescence, or early adulthood. The syndrome runs in families; thus, when SCD (or an aborted sudden death) has occurred in one family member, electrocardiograms of other family members is advisable, and could lead to multiple presymptomatic (pre-syncope) diagnoses.
Numerous genetic loci of long QT syndrome have been identified, with the initial LQTS types labeled LQT1 through LQT6; most are potassium channel mutations. More recently, newer complex forms of long QT have been identified, notably the LQT7 type, which is associated with Andersen Syndrome (AS). In addition to a prolonged QT interval with ventricular arrhythmias, this rare variant of hereditary-familial LQTS is characterized by periodic paralysis and abnormalities in physical development (e.g., micrognathia, clinodactyly). Long QT has been identified in 71% of all gene carriers of AS, and some researchers have proposed that AS be considered a subtype of LQTS.1
Another newly identified gene has been associated with Timothy Syndrome, another complicated disorder characterized by long QT. Timothy Syndrome is also a rare condition with multiorgan dysfunction, including lethal arrhythmias, autism, and syndactyly (webbing of fingers and toes).2 The syndromeâ€™s genetic mutations interfere with the calcium channels that regulate cardiac activity.
Using genetic testing, along with knowledge of the patientâ€™s personal and family history, some patients may be considered for an implantable cardioverter defibrillator (ICD). However, there is limited long-term clinical experience with the ICDs in this setting. Available data are encouraging. In one trial, patients who were cardiac arrest survivors or had recurrent syncope were followed for a mean of 8 years. LQTS patients with an ICD had a 1.3% death rate compared with 16% in controls who did not receive an implant.3
Even with a careful personal and family history, plus meticulous inspection with a 12-lead electrocardiogram, there are still numerous challenges facing the clinician trying to unmask this potentially silent killer. Once diagnosed, risk stratification is necessary given the profound heterogeneity of this syndrome, but it can be exceedingly difficult. The effort is important, however, considering that some patients may be destined for asymptomatic longevity while others will be walking time bombs waiting for the right trigger to detonate. (Triggers may be related to physical activity or emotional distress, or may even be auditory in nature.) The greatest challenge may be to discern which of these divergent outcomes is most likely in a given patient and the appropriate therapy to reduce this risk, which may be greatly influenced by the specific genotype of LQTS.
According to Jeffrey A. Towbin, MD, FACC, individuals who have had an aborted SCD should be strongly considered for an ICD. The need for an ICD also should be evaluated in families where long QT syndrome has been associated with sudden death in multiple family members. Itâ€™s still not clear which other patients might benefit from ICD placement. â€œResearch is ongoing,â€ he said, â€œand over the next few years, I think there will be more stringent criteria available so that clinicians can make wise decisions about ICD use.â€
Until then, clinicians may be able to answer some important questions about individual patients with a new genetic test for LQTS. Genaissance Pharmaceuticals (New Haven, CT) has intellectual property rights relating to the five genes that have been identified as explaining the majority of familial LQTS and Brugada Syndrome. (Like LQTS, Brugada Syndrome is caused by abnormalities in cardiac ion channels and can result in abnormal electrical activity in the heart, particularly ventricular fibrillation.) Genaissance Pharmaceuticals started offering the new test at its CLIA laboratory in 2004.
While the test is expensive, Dr. Towbin said, â€œThe cost decreases dramatically when you test other family members after identifying the gene mutation in the index case. Once you have a presymptomatic diagnosis, it can be life saving over the long term.â€ One possible benefit of the new genetic test: more specific information regarding genotype and a better assessment of individual patient risk may lead to fewer ICDs used in this population.
Gregoratos G, Abrams J, Epstein AE, et al. ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devicesâ€”summary article:
a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/NASPE Committee to Update the 1998 Pacemaker Guidelines). J Am Coll Cardiol 2002;40:1703-19.
- Tristani-Firouzi M, Jensen JL, Donaldson MR, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) J Clin Invest 2002;110:381-388.
- Splawski I, Timothy KW, Sharpe LM, et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism Cell 2004;119:19-31.
- Zareba W, Moss AJ, Daubert JP, et al. Implantable cardioverter defibrillator in high-risk long QT syndrome patients J Cardiovasc Electrophysiol 2003;14:337-41.
ANZ J. Surg. 2004; 74: 350â€“355
CONGENITAL CORONARY ARTERY FISTULAS: CLINICAL
CONSIDERATIONS AND SURGICAL TREATMENT
GOU-JIENGHONG,* CHIH-YUANLIN,* CHUNG-YILEE,* SHIN-HURNLOH,â€ HOU-SHENGYANG,*KUANG-YILIU,* YI-TINGTSAI*AND CHIEN-SUNGTSAI*
*Division of Cardiovascular Surgery, Department of Surgery, and â€ Department of Pharmacology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, China
Coronary artery fistulas are uncommon abnormalities that can cause significant cardiac morbidity. Indications for operation vary, particularly, for asymptomatic patients. Early surgical correction is indicated because of the high incidence of late symptoms and complications.
From January 1981 to December 2001, all 15 patients who underwent surgical management of congenital coronary artery fistulas at the Tri-Service General Hospital, Taipei, Taiwan, China were included in the present retrospective study.
Twelve patients were symptomatic at the time of the diagnosis. Coronary artery fistulas involved the right coronary artery in five patients, left coronary artery in nine, and both the right and the left coronary arteries in one. Coronary artery fistula drained into the right ventricle in seven patients, right atrium in three, pulmonary artery in two, left ventricle in one, left atrium in two, and
coronary venous sinus in one. The value of pulmonary blood flow/systemic blood flow ranged from 0.98 to 2.1. Six patients had associated cardiac anomalies. All patients received surgical correction. Nine patients received cardiopulmonary bypass during operation. There was zero operative mortality and operative morbidity was low. All patients had a stable condition and were asymptomatic during a mean postoperative follow-up of 13.3 years.
Early surgical treatment for coronary artery fistulas is safe and effective. The risk of operative correction appears to be considerably less than the potential for development of serious and potentially fatal complications, even in asymptomatic patients.
Key words: coronary artery fistula.
Abbreviations : Qp/Qs, pulmonary blood flow/systemic blood flow; TEE, transesophageal echocardiography.
- 1. Roberts WC. Major anomalies of coronary arterial origin seen in
adulthood. Am. Heart J. 1986; 111: 941â€“63.
- 2. Yamanaka O, Hobbs RE. Coronary artery anomalies in 125 595
patients undergoing coronary angiography. Cathet. Cardiovasc.
Diagn. 1990; 21: 28â€“40.
- 3. Vavurunakis M, Bush CA, Boudoulas H. Coronary artery fistula
in adult: incidence, angiographic characteristic, natural history.
Cathet. Cardiovasc. Diagn. 1995; 35: 116â€“20.
- 4. Sapin P, Frantz E, Jain A, Nichols TC, Dehmer GJ. Coronary
artery fistula: an abnormality affecting all age group. Medicine
1990; 69: 101â€“13.
- 5. Liotta D, Hallman GL, Hall RJ, Cooley DA. Surgical treatment
of congenital coronary artery fistula. Surgery 1971; 70: 856â€“64.
- 6. Krause W. Ueber den Ursprung einer access orischen a: coronaria
cordis aus der a. pulmonalis. Z. Rat. Med. 1865; 24: 225â€“7.
- 7. Biorck G, Crafoord C. Arteriovenous aneurysm on pulmonary
artery simulating patent ductus arteriosus Botalli. Thorax 1947;
- 8. Rittenhouse EA, Doty DB, Ehrenhaft JL. Congenital coronary
artery-cardiac chamber fistula. Ann. Thorac Surg. 1975; 20: 468â€“85.
- 9. Fernandes ED, Kadivar H, Hallman GL, Reul GJ, Ott DA,
Cooley DA. Congenital malformation of the coronary arteries:
the Texas Heart Institute experience. Ann. Thorac. Surg. 1992;
- 10. Liberthson RR, Sagar K, Berkoben JP, Weintraub RM, Levine
FH. Congenital coronary arteriovenous fistula. Report of 13
patients, review of the literature, and delineation of management.
Circulation 1979; 59: 849â€“54.
- 11. Lowe JE, Oldham HN, Sabiston DC. Surgical management of
congenital coronary artery fistula. Ann. Surg. 1981; 194: 373â€“80.
- 12. Falaschi G, Ott DA, Cooley DA.Urrutia-S CO, Surgical management
of 56 patients with congenital coronary artery fistulas. Ann.
Thorac. Surg. 1983; 35: 300â€“7.
- 13. Shyam Sunder KR, Balakrishnan KG, Tharaha JA et al. Coronary
artery fistula in children and adult: a review of 25 cases
with long term observations. Int. J. Cardiol. 1997; 58: 47â€“53.
- 14. Cottier C, Kiowski W, von Betrab R, Pfisterer M, Burkart F.
Multiple coronary arteriocameral fistulas as a cause of myocardial
ischemia. Am. Heart J. 1988; 115: 181â€“4.
- 15. Reitz BA, Harrison LH, Michaelis LL. Experimental coronary
artery fistula. J. Thor. Cardiovasc. Surg. 1975; 69: 279â€“82.
- 16. Davis JT, Allen HD, Wheller JJ et al. Coronary artery fistula in
the pediatric age group: a 19-year institutional experience. Ann.
Thorac. Surg. 1994; 58: 760â€“3.
- 17. Boger AJJC, Quaegebeur JM, Huysmans HA. Early and late
results of surgical treatment of congenital coronary artery fistula.
Thorax 1987; 42: 396â€“40.
- 18. Phillips WS, Cooley DA. Successful repair of a massive coronary
arteriovenous fistula in a 68-year-old man. Ann. Thorac.
Surg. 1996; 61: 984â€“6.
- 19. Misumi T, Nishikawa K, Yasudo M, Suzuki T, Kumamaru H.
Rupture of an aneurysm of coronary arteriovenous fistula. Ann.
Thorac. Surg. 2001; 71: 2026â€“7.
- 20. Katoh T, Zempo N, Minami Y et al. Coronary arteriovenous
fistulas with giant aneurysm: two case reports. Cardiovasc. Surg.
1999; 7: 470â€“2.
- 21. Shimaya K, Suzuki Y, Inoue Y. Right coronary artery fistula
with associated arteriovenous fistula. Int. J. Cardiol. 1997; 58:
- 22. Bauer HH, Allmendinger PD, Flaherty J, Owlia D, Rossi MA,
Chen CG. Congenital coronary arteriovenous fistula: spontaneous
rupture and cardiac tamponade. Ann. Thorac. Surg. 1996;
- 23. Shirai K, Ogawa M, Kawaguchi H, Kawano T, Nakashima Y,
Arakawa K. Acute myocardial infarction due to thrombus formation
in congenital coronary fistula. Eur. Heart J. 1994; 15:
- 24. Moro-Serrano C, Martinez J, Madrid AH et al. Ventricular
tachycardia in a patient with congential coronary arteriovenous
fistula. Am. Heart J. 1992; 124: 503â€“5.
- 25. Cheung LC, Au WK, Cheung HC, Chiu SW, Lee WT. Coronary
artery fistula: long-term results of surgical correction. Ann.
Thorac. Surg. 2001; 71: 190â€“5.
- 26. Stevenson JG, Sorensen GK, Stamm SJ, McCloskey JP, Hall
DG, Tittenhouse EA. Intraoperative transesophageal echocardiography
of coronary artery fistulas. Ann. Thorac. Surg. 1994; 57:
- 27. Kim Hyun IL, Koshiji T, Okomoto M, Arai Y, Masumoto H.
Surgical repair of coronary arteriovenous fistula: a simple and
useful approach to identify the fistulous communication. Eur. J.
Cardiothorac. Surg. 2001; 20: 850â€“2.
- 28. deNef JJE, Varghese PJ, Losekoot G. Congenital coronary fistula.
Analysis of 17 cases. Br. Heart J. 1971; 33: 857â€“62.
- 29. Effler DB, Sheldon WC, Turner JJ, Groves LK. Coronary arteriovenous
fistulas: diagnosis and surgical management. Report of
fifteen cases. Surgery 1967; 61: 41â€“50.
- 30. Mavroudis C, Backer CL, Rocchini AP, Muster AJ, Gevitz M.
Coronary artery fistulas in infants and children. A surgical
review and discussion of coil embolization. Ann. Thorac. Surg.
1997; 63: 1235â€“42.
- 31. Armsby LR, Keane JF, Sherwood MC, Forbess JM, Perry SB,
Lock JE. Management of coronary artery fistulae: patient selection
and results of transcatheter closure. J. Am. Coll. Cardiol.
2002; 39: 1026â€“32.
- 32. Reidy JF, Anjos RT, Qureshi SA, Baker EJ, Tynan MJ. Transcatheter
embolization in the treatment of coronary artery fistulas.
J. Am. Coll. Cardiol. 1991; 18: 187â€“92.
- 33. Perry SB, Rome J, Keane JF, Baim DS, Lock JE. Transcatheter
closure of coronary artery fistula. J. Am. Coll. Cardiol. 1992; 20:
Transcatheter Atrial Septal Defect Closure With
the Amplatzer Septal Occluder: Five-Year Follow-Up
Guan Yew, MD, and Nigel J. Wilson* MBChB
We report 5-year follow-up data of patients following atrial septal defect (ASD) closure with the Amplatzer septal occluder (ASO). Patients completed a questionnaire related to symptoms pre- and post-ASO implantation.
Complete transthoracic echocardiography
was used to assess residual atrial septal defect, right ventricular volume overload, and degree of mitral regurgitation. Mean follow-up duration was 4.8 6 0.6 years (range, 5.7â€“3.0 years). Complete closure was observed in all patients. Right ventricular volume overload, present in all patients prior to ASD closure, had resolved in 82% of patients.
No mitral valve sequelae were found; 75% of patients were symptomatic or felt much improved compared to their preclosure symptoms. New onset of migraine-type headaches was encountered in two patients, one for 12 months and one patient persisted with intermittent migrainous episode.
In conclusion, we report 100% closure rate of ASD with ASO device, with return of right ventricular size to normal in the majority of
patients. New onset of migraine headaches after ASO implantation can persist more than a few months.
Catheter Cardiovasc Interv 2005;64:193â€“196. ‘ 2005 Wiley-Liss, Inc.
Double-Orifice Mitral Valve with Intact Atrioventricular Septum: An
Echocardiographic Study With Anatomic and Functional Considerations
Bibhuti B. Das, MD, Linda B. Pauliks, MD, Ole A. Knudson, Jr, RDCS, Scott Kirby, RDCS,
Kak-Chen Chan, MD, Lilliam Valdes-Cruz, MD, and Raul O. Cayre, MD,
Denver, Colorado; Boston, Massachusetts; and Corrientes, Argentina
We identified 18 patients with double-orifice mitral
valve (DOMV) and intact atrioventricular (AV) septum
out of 40,179 echocardiographic studies performed
between 1997 and 2002 at Childrenâ€™s Hospital,
Denver, CO. In this study we describe (1) the
anatomic characteristics of the DOMV in the absence
of AV septal defect, (2) the function of the mitral
valve by spectral and color Doppler flow mapping,
and (3) associated lesions. The topographic location
of the orifices in the leaflets suggests possible embryologic
mechanisms of DOMV. In this series,
DOMV was most commonly associated with leftsided
obstructive lesions (in 39% of patients). Spectral
and color Doppler interrogation demonstrated a
normal flow profile in most cases; only 2 patients
had significant mitral regurgitation or stenosis.
Therefore, due to the uncertain natural history of
this lesion and the potential need for endocarditis
prophylaxis, careful imaging of the mitral valve is
recommended, particularly in the presence of leftsided
(J Am Soc Echocardiogr
Anatomoechocardiographic correlation double inlet left ventricle
Luis MuÃ±oz-CastellaÃ±os, MD – Nilda Espinola-Zavaleta, MD, PhD –
Candace Keirns, MD
Double inlet left ventricle (LV) is a type of atrioventricular connection in which the morphologically LV receives more than 50% of the atrioventricular valves when they are separate, or more than 75% of a common atrioventricular valve. The aim of this study was to establish an anatomoechocardiographic correlation between the morphologic features of equivalent anatomic specimens and the echocardiographic images of patients to provide a means of interpreting the image correctly and a more precise diagnosis of the cardiac defect. Echocardiography was used to study 18 patients with LV double inlet who were seen in a congenital heart disease clinic. The morphology of 17 hearts with this malformation from the department of embryology was analyzed to compare the anatomic features with their echocardiographic images. Echocardiography proved to be a noninvasive diagnostic tool that allowed characterization of anatomic and functional aspects of double inlet LV.
Anatomoechocardiographic correlation double inlet left ventricle
Task Force Report
Guidelines on management (diagnosis and treatment)
Task Force on Syncope, European Society of Cardiologyâ€ : M. Brignole (Chairman),
P. Alboni, D. Benditt, L. Bergfeldt, J. J. Blanc, P. E. Bloch Thomsen, J. G. van Dijk,
A. Fitzpatrick, S. Hohnloser, J. Janousek, W. Kapoor, R. A. Kenny, P. Kulakowski,
A. Moya, A. Raviele, R. Sutton, G. Theodorakis and W. Wieling
Table of contents
Preamble – Scope of the document 1256 – Method 1257
Part 1. Classification, epidemiology and prognosis
Brief overview of pathophysiology of syncope 1258
Epidemiological considerations 1259
Prognostic stratification: identification of factors
predictive of adverse outcome 1260
Part 2. Diagnosis
Strategy of evaluation (flow chart) 1262
Initial evaluation (history, physical examination,
baseline electrocardiogram) 1264
Carotid sinus massage 1266
Tilt testing 1268
Electrocardiographic monitoring (non-invasive
and invasive) 1271
Electrophysiological testing 1273
ATP test 1277
Ventricular signal-averaged electrocardiogram 1278
Exercise testing 1278
Cardiac catheterization and angiography 1279
Neurological and psychiatric evaluation 1279
Diagnostic yield and prevalence of causes
of syncope 1282
Part 3. Treatment
General principles 1282
Neurally-mediated reflex syncopal syndromes 1283
Orthostatic hypotension 1285
Cardiac arrhythmias as primary cause 1286
Structural cardiac or cardiopulmonary disease 1289
Vascular steal syndromes 1289
Part 4. Special issues in evaluating patients with syncope
Need for hospitalization 1290
Syncope in the older adult 1290
Syncope in paediatric patients 1292
Driving and syncope 1293
Glossary of uncertain terms 1293
Scope of the document
The purpose of this document is to provide specific
recommendations on the diagnostic evaluation and
management of syncope. The document is divided into
four parts: (1) classification, epidemiology and prognosis;
(2) diagnosis; (3) treatment; and (4) special issues
in evaluating patients with syncope. Each part reviews
background information and summarizes the relevant
literature. The details of pathophysiology and mechanisms
of various aetiologies were considered to lie
outside the scope of this document. Although the document
encompasses many of the important aspects of
syncope, the panel recommendations focused on the
following main questions:
1. What are the diagnostic criteria for causes of
2. What is the preferred approach to the diagnostic
work-up in various subgroups of patients with
3. How should patients with syncope be risk stratified?
Correspondence: Michele Brignole, MD, FESC, Department of
Cardiology and Arrhythmologic Centre, Ospedali Riuniti, 16033
*This document has been reviewed by members of the Committee
for Practice Guidelines (formerly Committee for Scientific and
Clinical Initiatives) and by the members of the Board of the
European Society of Cardiology (see Appendix 1), who approved
the document on 8 March 2001. The full text of this document is
available on the website of the European Society of Cardiology in
the section â€˜Scientific Informationâ€™, Guidelines.
â€ For affiliations of Task Force members see Appendix 2.
0195-668X/01/221256+51 $35.00/0 2001 The European Society of Cardiology
4. When should patients with syncope be hospitalized?
5. Which treatments are likely to be effective in preventing