Das Vektorkardiogramm des Syndroms von Wolff,Parkinson und White

Zusammenfassung Vektorkardiographische Untersuchung von 5 Kindern mit einem WPW-Syndrom. Sämtliche Fälle boten im EKG das Bild nach Art eines Linksschenkelblockes.Der Integralvektor verlief nach links und oben, etwas nach vorne, seitlich oder rückwärts. Das Verhalten der -Welle wird besprochen.Die vektorkardiographischen Möglichkeiten der Unterscheidung zwischen einem WPW-Syndrom und einem Schenkelblock sowie der Diagnose einer Ventrikelhypertrophie bei Bestehen eines WPW-Syndroms werden diskutiert.     

Cardiogenetics,Neurogenetics, and Pathogenetics of Left Ventricular Hypertrabeculation/Noncompaction

Background  Left ventricular hypertrabeculation (LVHT), also known as noncompaction or spongy myocardium, is a cardiac abnormality of unknown etiology and pathogenesis frequently associated with genetic cardiac and noncardiac disorders, particularly genetic neuromuscular disease. This study aimed to review the current knowledge about the genetic or pathogenetic background of LVHT. Methods  A literature review of all human studies dealing with the association of LVHT with genetic cardiac and noncardiac disorders, particularly neuromuscular disorders, was conducted. Results  Most frequently, LVHT is associated with mitochondrial disorders (mtDNA, nDNA mutations), Barth syndrome (G4.5, TAZ mutations), hypertrophic cardiomyopathy (MYH7, ACTC mutations), zaspopathy (ZASP/LDB3 mutations), myotonic dystrophy 1 (DMPK mutations), and dystrobrevinopathy (DTNA mutations). More rarely, LVHT is associated with mutations in the DMD, SCNA5, MYBPC3, FNLA1, PTPN11, LMNA, ZNF9, AMPD1, PMP22, TNNT2, fibrillin2, SHP2, MMACHC, LMX1B, HCCS, or NR0B1 genes. Additionally, LVHT occurs with a number of chromosomal disorders, polymorphisms, and not yet identified genes, as well in a familial context. The broad heterogeneity of LVHT’s genetic background suggests that the uniform morphology of LVHT not only is attributable to embryonic noncompaction but also may result from induction of hypertrabeculation as a compensatory reaction of an impaired myocardium. Conclusions  Most frequently, LVHT is associated with mutations in genes causing muscle or cardiac disease, or with chromosomal disorders. These associations require comprehensive cardiac, neurologic, and cytogenetic investigations.     

Zur Kasuistik des von Wolff,Parkinson und White beschriebenen Herz-Syndroms

Zusammenfassung Es wurden 2 elektokardiographische Befunde bei Kindern beschrieben, die das Bild eines WPW-Syndroms zeigen. Die erstmalige Feststellung erfolgte in einem Fall im Alter von 7 Jahren, im anderen Fall im Alter von 11 Monaten.     

A Teenager with Marfan Syndrome and Left Ventricular Noncompaction

We report a teenager with Marfan syndrome who presented to Cincinnati Children’s Hospital Medical Center as part of a preoperative evaluation for an orthopedic procedure after asymptomatic arrhythmia was recognized. Continuous cardiac monitoring showed frequent premature ventricular contractions and nonsustained runs of ventricular tachycardia. Cardiac magnetic resonance imaging showed left ventricular noncompaction (LVNC), prompting insertion of an implantable cardiac defibrillator. Although Marfan syndrome is associated with cardiac lesions, it has not previously been described with LVNC. Likewise LVNC has been seen in association with other cardiac lesions; however, this report represents the first reference of LVNC in the context of Marfan syndrome.     

Postnatal Outcome of Fetal Left Ventricular Hypertrabeculation/Noncompaction

Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology. Prenatal diagnosis of LVHT can be established by fetal echocardiography. A review of 106 published cases showed that 46 cases with prenatally diagnosed LVHT were alive 0.5–120 months after birth. Since the course of cases with prenatally LVHT after publication is unknown, we aimed to collect follow-up-information. Information regarding vital status, cardiac and extracardiac morbidity was gathered by contacting the authors of the 46 cases. Fourteen of the 28 authors answered and gave information about 18 cases (six females, seven males, five gender-unknown, age 18 months to 10 years, mean follow-up 60 months). No differences were found between the 18 cases with follow-up and the 28 cases without follow-up regarding age, gender, cardiac or extracardiac comorbidities, and interventions. Three of the 18 cases had died subsequently from heart failure, osteosarcoma, and enterocolitis, respectively. Mutations or chromosomal abnormalities were found in six of the seven examined patients, extracardiac abnormalities in nine patients. Three patients received a pacemaker because of complete AV block, and two patients underwent heart transplantation. Cardiac surgical or interventional procedures were carried out in four patients. None suffered from malignant arrhythmias or had a cardioverter–defibrillator implanted. Based on the limited information, there are indications that cases with fetal diagnosis of LVHT have a continuing morbidity and mortality, even if they receive appropriate care. Since fetal LVHT is frequently associated with genetic abnormalities, further research about survival and underlying genetic causes is needed.     

Left Ventricular Noncompaction Cardiomyopathy in Association with Trisomy 13

In recent years, left ventricular noncompaction (LVNC) has been recognized as a distinct form of cardiomyopathy with its own clinical presentation and natural history. More than 100 cases of LVNC have been described in children. Although LVNC has been described in association with metabolic disorders such as Fabry's disease or genetic disorders such as Roifman's syndrome, this case represents the first report of LVNC in a child with trisomy 13.     

Isolated Left Ventricular Noncompaction in a Newborn With Pierre-Robin Sequence

Pierre-Robin sequence or syndrome (PRS) (OMIM #261800) is characterized by a small mandible (micrognathia), posterior displacement/retraction of the tongue (glossoptosis), and upper airway obstruction. It has an incidence varying from 1 in 8,500 to 1 in 30,000 births. Congenital heart defects (CHDs) occur in 20 % of the patients with PRS. Ventricular septal defect, patent ductus arteriosus, and atrial septal defects are the most common lesions. Noncompaction of the ventricular myocardium is a rare cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses. It is thought to be caused by arrest of the normal endomyocardial morphogenesis. Isolated left ventricular noncompaction (LVNC) in patients with PRS has not been reported previously. This report describes a newborn with PRS and isolated LVNC. Previously, LVNC has been reported in association with mitochondrial disorders, Barth syndrome hypertrophic cardiomyopathy, zaspopathy, muscular dystrophy type 1, 1p36 deletion, Turner syndrome, Ohtahara syndrome, distal 5q deletion, mosaic trisomy 22, trisomy 13, DiGeorge syndrome, and 1q43 deletion with decreasing frequency. Karyotype analysis of the reported patient showed normal chromosomes (46, XX), and a fluorescent in situ hybridization study did not show chromosome 22q11.2 deletion. This is the first clinical report of a patient with isolated LVNC and PRS. Noncompaction of the ventricular myocardium is a rare and unique disorder with characteristic morphologic features that can be identified by echocardiography. Long-term follow-up evaluation for development of progressive LV dysfunction and cardiac arrhythmias is indicated for these patients.     

Double-Orifice Mitral Valve Associated with Noncompaction of Left Ventricular Myocardium

Double-orifice mitral valve (DOMV) is a rare anomaly commonly associated with other congenital heart diseases. We present two patients with DOMV and noncompaction of the left ventricular myocardium (NLVM). Case 1 was a 5-year-old male diagnosed with dilated cardiomyopathy. His echocardiogram showed thin myocardium with dilatation at the basal of the left ventricle, thick noncompacted myocardium around the apex of the left ventricle, and DOMV (complete bridge type) with mild mitral regurgitation. Case 2 was an 11-year-old male diagnosed with complete atrioventricular block. His echocardiogram showed thick noncompacted myocardium with mild hypokinesis from the posterior to lateral wall and DOMV (complete bridge type) with mild mitral regurgitation. DOMV is commonly associated with congenital anomaly and always has an abnormal subvalvar apparatus. The mitral valve and its apparatus embryologically originate from the endomyocardium, which is thought to be the origin of noncompacted myocardium. We speculate that patients with DOMV may have NLVM.     

Left Ventricular Noncompaction: A Rare Cause of Hydrops Fetalis

We present a case of isolated left ventricular noncompaction (LVNC), a severe congenital cardiomyopathy, which presented in the neonatal period as fetal hydrops. To our knowledge, this is the first child with LVNC presenting with hydrops fetalis to survive infancy. Once considered a uniformly fatal and extremely rare form of cardiomyopathy, LVNC has recently been shown to be more common than previously reported, with a varying range of clinical severity. Although long-term morbidity and mortality are not clearly known, recent work suggests better survivability than once reported.     

Anomalous Left Coronary Artery from the Right Sinus of Valsalva and Noncompaction of the Left Ventricle

Anomalous origin of the left coronary artery is a well-known cause of sudden death. Noncompaction of the ventricular myocardium is a cardiomyopathy characterized by prominent trabeculae and deep intertrabecular recesses. Both anomalies are rare. We report the case of a child with both anomalous origin of the left coronary artery from the right sinus of Valsalva and noncompaction of the left ventricular myocardium found during an evaluation for Kawasaki’s disease.     

Lown-Ganong-Levine Syndrome in a 3-Month-Old Infant with Isolated Left Ventricular Noncompaction

This report describes a 3-month-old boy with isolated left ventricular noncompaction admitted to a medical facility due to heart failure and dysrhythmia. His electrocardiogram showed a short PR interval and a normal QRS complex after abortion of supraventricular tachycardia in favor of Lown-Ganong-Levine syndrome or enhanced atrioventricular nodal conduction.     

Fetal Bradycardia and Sinus Node Dysfunction

The study reported here is a rare case of fetal sinus bradycardia that evolved into symptomatic bradycardia after birth, at which time the implantation of a cardiac pacemaker was indicated. Fetal echocardiography was used to diagnose the type of cardiac rhythm that caused the intra-uterine bradycardia, which enabled the initiation of the appropriate therapy approach and avoided an unnecessary interruption of the pregnancy. However, the details of the sinus bradycardia were impossible to determine in utero in this case due to sinus node dysfunction. After birth, the electrocardiogram results drew attention to a potentially unusual cause of sinus bradycardia, and enabled the diagnosis of this rare disease in this infant.     

Left Ventricular Noncompaction and Coronary Artery Fistula in an Infant with Deletion 22q11.2

This report describes an infant presenting with deletion 22q11.2 in combination with left ventricular noncompaction and a coronary artery fistula. These two cardiac findings have rarely been reported in association with each other and have never been reported together in combination with deletion 22q11.2. The reported case demonstrates the expanding cardiac phenotype of individuals with deletion 22q11.2, suggesting that it may be appropriate to offer studies for the detection of deletion 22q11.2 to individuals with a wide range of structural cardiac defects.     

Noninvasive Evaluation of Left Ventricular Noncompaction: What’s New in 2009?

Significant interest in clinical practice as well as the medical literature exists regarding the presentation and outcome of children and adults with left-ventricular noncompaction (LVNC). The mainstay in the diagnosis of LVNC has been the anatomic definition of the ventricular myocardium by two-dimensional echocardiographic imaging. Although helpful, this approach lacks diagnostic precision and fails to evaluate the functional impact of this abnormal myocardial architecture on global and regional myocardial performance. This review will focus on the use of novel echocardiographic modalities of tissue Doppler, strain, and strain rate imaging to identify and characterize abnormalities of regional myocardial function in patients with LVNC.     

A Novel Method for Quantification of Left Ventricular Noncompaction Using Two-Dimensional Echocardiography in Children

Objective

Although there are several echocardiographic criteria, there is not yet a general consensus about the diagnosis of left ventricular noncompaction. The current criteria are mostly based on the areas with maximal noncompaction in the heart. The echocardiographer may miss this maximal point leading to a misdiagnosis. Accordingly, we suggested a new method to measure the percentage of myocardial noncompaction using two-dimensional echocardiography.

Methods

In this study, the new method was examined on 4 noncompaction and 26 dilated cardiomyopathies, and 25 normal subjects. The percentage of noncompaction was measured at 3 levels (apical, papillary muscle and mitral valve) and averaged.

Findings

The mean percentages of myocardial noncompaction were 3.59±2.27, 8.86±5.52 and 34.7±26.1 in the control, dilated cardiomyopathy and noncompaction groups, respectively. A value of 17% or greater could distinguish left ventricular noncompaction from dilated cardiomyopathy with 92% specificity and 100% sensitivity and from normal subjects with 100% specificity and sensitivity. This percentage had a statistically significant association with noncompacted to compacted myocardial thickness ratio (P<0.001).

Conclusion

This method showed good correlations with the existing echocardiographic and magnetic resonance criteria. However, it is not dependent on finding the area of maximal involvement. Being comparable to magnetic resonance imaging in accuracy, it is easier to perform and more available.     

Long-Term Support with Milrinone Prior to Cardiac Transplantation in a Neonate with Left Ventricular Noncompaction Cardiomyopathy

A 2-week-old female infant presented with acute decompensated left ventricular failure. Echocardiography diagnosed left ventricular noncompaction cardiomyopathy with dilated phenotype and a left ventricular shortening fraction <10%. The infant was mechanically ventilated for 2 weeks and then successfully extubated. She was maintained on intravenous milrinone for 6 months until she underwent successful orthotopic heart transplantation. Young children can be supported with inotropes for prolonged periods while awaiting heart transplantation.     

Congenital Atresia of the Left Main Coronary Artery With Noncompaction of the Ventricular Myocardium in an Asymptomatic Young Child

Congenital atresia of the left main coronary artery (LMCA) is an extremely rare cardiac anomaly, and no cases have been reported from the mainland of China. The diagnosis for the 20-month-old boy in the reported case highlights the essentiality of comprehensive diagnostic measures. To avoid a misdiagnosis, electrocardiographic and echocardiographic evidence should be vigilantly explored in young children suspected of having dilated cardiomyopathy. This is the first case report of LMCA atresia associated with noncompaction of the left ventricular myocardium.