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Ultrasound in Obstetrics & Gynecology :... Aug 2008A levoatrial cardinal vein is a rare cardiovascular anomaly that may be present in malformed hearts with severe left heart obstruction and restrictive interatrial...
A levoatrial cardinal vein is a rare cardiovascular anomaly that may be present in malformed hearts with severe left heart obstruction and restrictive interatrial communication. We report the prenatal diagnosis at 23 weeks of a fetus with mitral atresia, double-outlet right ventricle, premature closure of the foramen ovale and a levoatrial cardinal vein draining into the innominate vein. In a prior examination performed elsewhere the levoatrial cardinal vein had been interpreted as an aortic arch perfused retrogradely, and hypoplastic left heart syndrome with aortic atresia had been diagnosed. Prenatal management, induction at 38 weeks and postnatal examinations and treatment are reported. To the best of our knowledge, this is the first reported prenatal diagnosis of this embryological vessel, presenting a potential pitfall for prenatal echocardiography.
Topics: Adult; Female; Foramen Ovale; Genetic Counseling; Heart Defects, Congenital; Humans; Hypoplastic Left Heart Syndrome; Infant; Infant, Newborn; Magnetic Resonance Angiography; Male; Mitral Valve; Pregnancy; Prenatal Diagnosis; Treatment Outcome; Ultrasonography, Prenatal
PubMed: 18634108
DOI: 10.1002/uog.5381 -
Cardiology in the Young Jan 2000
Review
Topics: Humans; Mitral Valve; Tricuspid Atresia
PubMed: 10695538
DOI: 10.1017/s1047951100006351 -
Ultrasound in Obstetrics & Gynecology :... Jun 2015To investigate the perinatal outcome of cases with a prenatal diagnosis of single-ventricle cardiac defects, single ventricle being defined as a dominant right ventricle...
OBJECTIVES
To investigate the perinatal outcome of cases with a prenatal diagnosis of single-ventricle cardiac defects, single ventricle being defined as a dominant right ventricle (RV) or left ventricle (LV), in which biventricular circulation was not possible.
METHODS
We reviewed patients with a prenatal diagnosis of single-ventricle cardiac defects, made at one institution between 1995 and 2008. Cases diagnosed with double-inlet LV, tricuspid atresia, pulmonary atresia with intact ventricular septum and severe RV hypoplasia and those with hypoplastic left heart syndrome (HLHS) were included in the study population. Patients with HLHS were identified prenatally as being standard risk or high risk (HLHS with highly restrictive or intact atrial septum, mitral stenosis with aortic atresia and/or LV coronary artery sinusoids). Patients with an address over 200 miles from the hospital, diagnosed with heterotaxy syndrome or referred for fetal intervention, were excluded.
RESULTS
We identified 312 cases of single-ventricle cardiac defect (208 dominant RV; 104 dominant LV) that were diagnosed prenatally. Most (96%) patients with a dominant RV had HLHS. Among the total 312 cases there were 98 (31%) elective terminations of pregnancy (TOP), 12 (4%) cases of spontaneous fetal demise, 12 (4%) cases lost to prenatal follow-up and 190 (61%) live births. Among the 199 patients that underwent fetal echocardiography before 24 weeks' gestation, there were 97 (49%) cases of elective TOP. There was no difference in prenatal outcome between those with a dominant RV and those with a dominant LV (P = 0.98). Of the 190 live births, five received comfort care. With an average of 7 years' follow-up (to obtain data on the Fontan procedure), transplantation-free survival was lower in those with a dominant RV than in those with a dominant LV (standard-risk HLHS odds ratio (OR), 3.0 (P = 0.01); high-risk HLHS OR, 8.8 (P < 0.001)).
CONCLUSIONS
The prenatal outcome of cases with single-ventricle cardiac defects was similar between those with a dominant RV and those with a dominant LV, however postnatal intermediate-term survival favored those with a dominant LV. High-risk HLHS identified prenatally was associated with the lowest transplantation-free survival.
Topics: Abortion, Eugenic; Adolescent; Adult; Female; Fetal Death; Gestational Age; Heart Transplantation; Heart Ventricles; Humans; Hypoplastic Left Heart Syndrome; Infant, Newborn; Middle Aged; Pregnancy; Pulmonary Atresia; Retrospective Studies; Tricuspid Atresia; Ultrasonography, Prenatal; Young Adult
PubMed: 25042627
DOI: 10.1002/uog.14634 -
Cardiovascular Ultrasound Dec 2010Mitral annular disjunction (MAD) consists of an altered spatial relation between the left atrial wall, the attachment of the mitral leaflets, and the top of the left...
BACKGROUND
Mitral annular disjunction (MAD) consists of an altered spatial relation between the left atrial wall, the attachment of the mitral leaflets, and the top of the left ventricular (LV) free wall, manifested as a wide separation between the atrial wall-mitral valve junction and the top of the LV free wall. Originally described in association with myxomatous mitral valve disease, this abnormality was recently revisited by a surgical group that pointed its relevance for mitral valve reparability. The aims of this study were to investigate the echocardiographic prevalence of mitral annular disjunction in patients with myxomatous mitral valve disease, and to characterize the clinical profile and echocardiographic features of these patients.
METHODS
We evaluated 38 patients with myxomatous mitral valve disease (mean age 57 ± 15 years; 18 females) and used standard transthoracic echocardiography for measuring the MAD. Mitral annular function, assessed by end-diastolic and end-systolic annular diameters, was compared between patients with and without MAD. We compared the incidence of arrhythmias in a subset of 21 patients studied with 24-hour Holter monitoring.
RESULTS
MAD was present in 21 (55%) patients (mean length: 7.4 ± 8.7 mm), and was more common in women (61% vs 38% in men; p = 0.047). MAD patients more frequently presented chest pain (43% vs 12% in the absence of MAD; p = 0.07). Mitral annular function was significantly impaired in patients with MAD in whom the mitral annular diameter was paradoxically larger in systole than in diastole: the diastolic-to-systolic mitral annular diameter difference was -4,6 ± 4,7 mm in these patients vs 3,4 ± 1,1 mm in those without MAD (p < 0.001). The severity of MAD significantly correlated with the occurrence of non-sustained ventricular tachycardia (NSVT) on Holter monitoring: MAD›8.5 mm was a strong predictor for (NSVT), (area under ROC curve = 0.74 (95% CI, 0.5-0.9); sensitivity 67%, specificity 83%). There were no differences between groups regarding functional class, severity of mitral regurgitation, LV volumes, and LV systolic function.
CONCLUSIONS
MAD is a common finding in myxomatous mitral valve disease patients, easily recognizable by transthoracic echocardiography. It is more prevalent in women and often associated with chest pain. MAD significantly disturbs mitral annular function and when severe predicts the occurrence of NSVT.
Topics: Echocardiography; Female; Heart Neoplasms; Humans; Male; Middle Aged; Mitral Valve; Mitral Valve Insufficiency; Myxoma
PubMed: 21143934
DOI: 10.1186/1476-7120-8-53 -
Journal of Molecular and Cellular... Jul 2017Intracardiac haemodynamics is crucial for normal cardiogenesis, with recent evidence showing valvulogenesis is haemodynamically dependent and inextricably linked with...
Intracardiac haemodynamics is crucial for normal cardiogenesis, with recent evidence showing valvulogenesis is haemodynamically dependent and inextricably linked with shear stress. Although valve anomalies have been associated with genetic mutations, often the cause is unknown. However, altered haemodynamics have been suggested as a pathogenic contributor to bicuspid aortic valve disease. Conversely, how abnormal haemodynamics impacts mitral valve development is still poorly understood. In order to analyse altered blood flow, the outflow tract of the chick heart was constricted using a ligature to increase cardiac pressure overload. Outflow tract-banding was performed at HH21, with harvesting at crucial valve development stages (HH26, HH29 and HH35). Although normal valve morphology was found in HH26 outflow tract banded hearts, smaller and dysmorphic mitral valve primordia were seen upon altered haemodynamics in histological and stereological analysis at HH29 and HH35. A decrease in apoptosis, and aberrant expression of a shear stress responsive gene and extracellular matrix markers in the endocardial cushions were seen in the chick HH29 outflow tract banded hearts. In addition, dysregulation of extracellular matrix (ECM) proteins fibrillin-2, type III collagen and tenascin were further demonstrated in more mature primordial mitral valve leaflets at HH35, with a concomitant decrease of ECM cross-linking enzyme, transglutaminase-2. These data provide compelling evidence that normal haemodynamics are a prerequisite for normal mitral valve morphogenesis, and abnormal blood flow could be a contributing factor in mitral valve defects, with differentiation as a possible underlying mechanism.
Topics: Animals; Biomarkers; Chick Embryo; Extracellular Matrix; Gene Expression Profiling; Heart; Heart Defects, Congenital; Hemodynamics; Mitral Valve; Organogenesis; T-Box Domain Proteins
PubMed: 28576718
DOI: 10.1016/j.yjmcc.2017.05.012 -
Journal of the American College of... Dec 1999
Review
Topics: Cause of Death; Death, Sudden, Cardiac; Echocardiography; Humans; Incidence; Mitral Valve; Mitral Valve Insufficiency; Ventricular Function, Left
PubMed: 10588228
DOI: 10.1016/s0735-1097(99)00475-1 -
The Journal of Thoracic and... Feb 2010Recent advances in perioperative care have led to a decrease in mortality of children with hypoplastic left heart syndrome undergoing the Norwood operation. This study...
OBJECTIVE
Recent advances in perioperative care have led to a decrease in mortality of children with hypoplastic left heart syndrome undergoing the Norwood operation. This study aimed to evaluate the outcome of the Norwood operation in a single center over 12 years and to identify clinical and anatomic risk factors for adverse early and longer term outcome.
METHODS
Full data on all 157 patients treated between 1996 and 2007 were analyzed.
RESULTS
Thirty-day mortality of the Norwood operation decreased from 21% in the first 3 years to 2.5% in the last 3 years. The estimated exponentially weighted moving average of early mortality after 157 Norwood operations was 2.3%. Risk factors were an aberrant right subclavian artery, the use and duration of circulatory arrest, and the duration of total support time. The anatomic subgroup mitral stenosis/aortic atresia and female gender tended to show an increased early mortality. In the group of patients who required postoperative cardiopulmonary resuscitation, the ascending aorta was significantly smaller than in the remainder (3.03 +/- 1.05 vs 3.63 +/- 1.41 mm). Interstage mortality was 15% until the initiation of a home surveillance program in 2005, which has zeroed it so far. It was significantly higher in the mitral stenosis/aortic atresia subgroup and tended to be higher in patients who required cardiopulmonary resuscitation after the Norwood operation. The best actuarial survival was observed in the mitral atresia/aortic atresia subgroup.
CONCLUSION
The Norwood operation can now be performed with low mortality. Patients with mitral stenosis/aortic atresia still constitute the most challenging subgroup.
Topics: Cardiac Surgical Procedures; Child; Female; Fontan Procedure; Heart Arrest, Induced; Hospital Mortality; Humans; Hypoplastic Left Heart Syndrome; Male; Postoperative Complications; Retrospective Studies; Risk Factors; Treatment Outcome
PubMed: 19879598
DOI: 10.1016/j.jtcvs.2009.07.063 -
Turk Kardiyoloji Dernegi Arsivi : Turk... Jan 2014Congenital anomalies of the mitral valve apparatus are rare. Of such cases, congenital mitral stenosis, atresia, accessory valvular tissue, and cleft mitral valve are...
Congenital anomalies of the mitral valve apparatus are rare. Of such cases, congenital mitral stenosis, atresia, accessory valvular tissue, and cleft mitral valve are more common. Descriptions of unileaflet mitral valves (either partial or complete leaflet agenesis/hypoplasia) are extremely rare and largely limited to a few case reports. We report herein a 45-year-old nulliparous woman presenting to our outpatient clinic with chest discomfort and dyspnea on minimal exertion. Mitral valve with a single leaflet leading to a significant obstruction in left ventricular outflow was seen on transthoracic echocardiography and confirmed with transesophageal two- (2D) and three-dimensional (3D) echocardiography. Metoprolol was prescribed to relieve obstruction and symptoms.
Topics: Adrenergic beta-1 Receptor Antagonists; Echocardiography, Transesophageal; Female; Heart Defects, Congenital; Humans; Metoprolol; Middle Aged; Mitral Valve; Ventricular Outflow Obstruction
PubMed: 24481102
DOI: 10.5543/tkda.2014.44380 -
American Journal of Medical Genetics.... Jul 2022Kabuki syndrome is a Mendelian disorder of the epigenetic machinery characterized by typical dysmorphic features, intellectual disability, and postnatal growth...
Kabuki syndrome is a Mendelian disorder of the epigenetic machinery characterized by typical dysmorphic features, intellectual disability, and postnatal growth deficiency. Pathogenic variants in the genes encoding the chromatin modifiers KMT2D and KDM6A are responsible for Kabuki syndrome 1 (KS1) and Kabuki syndrome 2 (KS2), respectively. In addition, 11 cases of KS1 caused by mosaic variants in KMT2D have been reported in the literature. Some of these individuals display milder craniofacial and growth phenotypes, and most do not have congenital heart defects. We report the case of an infant with severe hypoplastic left heart syndrome with mitral atresia and aortic atresia (HLHS MA-AA), pulmonary vein stenosis, and atypical facies with a somatic mosaic de novo nonsense variant in KMT2D (c.8200C>T, p.R2734*) identified on trio exome sequencing of peripheral blood and present in 11.2% of sequencing reads. KS was confirmed with EpiSign, a diagnostic genome-wide DNA methylation platform used to identify epigenetic signatures. This case suggests that use of this newly available clinical test can guide the interpretation of low-level mosaic variants identified through sequencing and suggests a new lower limit of mosaicism in whole blood required for a diagnosis of KS.
Topics: Abnormalities, Multiple; DNA Methylation; Face; Heart Defects, Congenital; Hematologic Diseases; Humans; Mutation; Vestibular Diseases
PubMed: 35384273
DOI: 10.1002/ajmg.a.62754 -
Pediatric Cardiology Apr 2013Embryologic development of atrial septum primum antedates formation of the atrioventricular and semilunar valves. Leftward displacement of the superior attachment of...
Embryologic development of atrial septum primum antedates formation of the atrioventricular and semilunar valves. Leftward displacement of the superior attachment of septum primum (LDSP) has only been described in hypoplastic left heart syndrome (HLHS). This study reports the frequency of LDSP in HLHS and correlates LDSP with other echocardiographic features of HLHS. Preoperative echocardiograms for 72 consecutive patients with classic HLHS from 1996 to 2002 at Children's Hospital of Wisconsin were reviewed. One patient was excluded for inadequate imaging. Data for the 71 patients included the following: size, location, and Doppler gradient across the atrial septal defect (ASD); location of attachment of septum primum; size and patency of the aortic valve (AoV) annulus; size and patency of the mitral valve (MV) annulus; ascending aorta diameter (AAD); and left-ventricular end diastolic dimension (LVEDD). Patients were categorized into three groups: aortic atresia/mitral atresia (AA/MA), aortic atresia/mitral stenosis (AA/MS), and aortic stenosis/mitral stenosis (AS/MS). LDSP was seen in 46 of 71 patients (64 %). By diagnostic group, 32 of 35 patients with AA/MA had LDSP (91 %) compared with 10 of 19 AA/MS patients (53 %) and 4 of 17 AS/MS patients (24 %), p < 0.05. AoV patency was seen in 4 of 46 (9 %) patients with LDSP compared with 13 of 25 (52 %) patients with normal atrial attachment, p < 0.005. Mean left heart dimensions in infants with LDSP compared with normal attachment were as follows: AoV annulus 2.24 versus 3.83 mm, AAD 2.34 versus 4.1 mm, MV annulus 3.21 versus 6.48 mm, and LVEDD 6.38 versus 13.83 mm. By two-way analysis of variance of diagnostic category versus atrial septal attachment with interaction, MV annulus and AAD were independently predicted smaller by LDSP versus normal atrial attachment, p < 0.05. Nonsignificant factors included AoV annulus, LVEDD, ASD size, and Doppler gradient. LDSP correlates with more severe maldevelopment of the left heart in patients with HLHS. Because formation of septum primum precedes development and growth of the intracardiac valves, we speculate that LDSP may be an initiating event in the development of HLHS. In addition, prenatal identification of LDSP may help direct planning of potential in utero therapies.
Topics: Analysis of Variance; Chi-Square Distribution; Child; Echocardiography, Doppler; Female; Heart Septal Defects, Atrial; Humans; Hypoplastic Left Heart Syndrome; Male; Retrospective Studies
PubMed: 23179423
DOI: 10.1007/s00246-012-0579-y