All posts in neonatal cardiology

A study of congenital cardiac disease in a neonatal population. The validity of echocardiography undertaken by a neonatologist

A study of congenital cardiac disease in a neonatal population – 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.

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Inherited Arrhythmias: Long QT Syndrome

The Challenge
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 syndrome’s genetic mutations interfere with the calcium channels that regulate cardiac activity.

Using genetic testing, along with knowledge of the patient’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. It’s still not clear which other patients might benefit from ICD placement. “Research is ongoing,” he said, “and over the next few years, I think there will be more stringent criteria available so that clinicians can make wise decisions about ICD use.”

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, “The 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.” 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 Devices—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.
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ANZ J. Surg. 2004; 74: 350–355

*Division of Cardiovascular Surgery, Department of Surgery, and † 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.


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Interventional Cardiology

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, 5.7–3.0 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;64:193–196. ‘ 2005 Wiley-Liss, Inc.

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Double-Orifice Mitral Valve

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 Children’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
obstructive lesions.

(J Am Soc Echocardiogr

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Double inlet left ventricle

Original Articles
Anatomoechocardiographic correlation double inlet left ventricle

Luis Muñoz-Castellaños, 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

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Available online
Task Force Report
Guidelines on management (diagnosis and treatment)
of syncope*

Task Force on Syncope, European Society of Cardiology†: 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
    Definition 1258
    Brief overview of pathophysiology of syncope 1258
    Classification 1259
    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
    Echocardiogram 1266
    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
    Metabolic 1290

  • 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
    Lavagna, Italy.
    *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 ‘Scientific Information’, Guidelines.
    †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
    syncopal recurrences?
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