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Open Heart 2020Congenital pericardial defect (CPD) is a rare entity with an estimated frequency of 0.01%-0.04%. The recognition of this anomaly is important since it can be associated...
OBJECTIVE
Congenital pericardial defect (CPD) is a rare entity with an estimated frequency of 0.01%-0.04%. The recognition of this anomaly is important since it can be associated with serious complications. The aim of this study and review was to describe clinical and imaging features that help in establishing the diagnosis of this condition.
METHODS
We retrospectively reviewed all adult patients at the Cleveland Clinic Health System with the diagnosis of CPD between the years 2000 and 2015. Baseline clinical characteristics, clinical manifestations, ECG, transthoracic echocardiography (TTE), cardiac CT and cardiac magnetic resonance (CMR) images were reviewed.
RESULTS
Eight patients were included in the study. Sixty-three percent of patients were males with mean age at diagnosis of 48 years, 63% had a partial pericardial defect on the left side and right ventricular (RV) dilation on TTE. Three patients had CMR. Levocardia was present in all CMRs. One patient had greater than 60° clockwise rotation and none of the CMRs showed ballooning of the left ventricular apex. One patient required surgical pericardioplasty. The remaining seven patients had a median follow-up of 17.3 months (5-144.9 months) and all remained asymptomatic.
CONCLUSION
CPDs are more likely to be partial on the left side and patients often have RV dilation on the TTE and levocardia on CMR. Most patients remain stable and do not require surgical intervention. TTE and CMR play an important role in making the diagnosis of this anomaly.
Topics: Adult; Cardiac Imaging Techniques; Clinical Decision-Making; Critical Pathways; Decision Support Techniques; Echocardiography; Electrocardiography; Female; Heart Defects, Congenital; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Pericardium; Predictive Value of Tests; Prognosis; Retrospective Studies; Time Factors; Tomography, X-Ray Computed
PubMed: 32076559
DOI: 10.1136/openhrt-2019-001103 -
Journal of Community Hospital Internal... 2019Tetralogy of Fallot is the most common cyanotic congenital heart disease. It consists of right ventricular outflow tract obstruction, a ventricular septal defect,...
Tetralogy of Fallot is the most common cyanotic congenital heart disease. It consists of right ventricular outflow tract obstruction, a ventricular septal defect, abnormally located aorta and right ventricular hypertrophy. It usually occurs as an isolated anomaly with a normally placed heart and abdominal viscera. We present a case of a 19 years old female who presented with a prolonged history of shortness of breath (SOB) and cyanosis. After undergoing echocardiography and cardiac computed tomography angiogram (CTA), she was diagnosed to be a case of Tetrology of Fallot (TOF) in association with situs inversus with levocardia also termed 'isolated levocardia'. The patient underwent surgical correction and she was asymptomatic with no residual cardiac defects on follow up after 6 months. Isolated levocardia is a rare condition that is usually associated with severe cardiac defects and a low life expectancy in untreated patients. It is unusual for it to be diagnosed in adults as in our case.
PubMed: 31258874
DOI: 10.1080/20009666.2019.1601980 -
Heart Asia 2018A 38-year-old woman, 37+3 weeker was incidentally detected to have fetal cardiomegaly during 36 weeks ultrasound and referred for fetal echocardiogram. Antenatal history...
UNLABELLED
A 38-year-old woman, 37+3 weeker was incidentally detected to have fetal cardiomegaly during 36 weeks ultrasound and referred for fetal echocardiogram. Antenatal history and anomaly scan were normal. Fetal echocardiogram showed heart rate of 153/min, sinus rhythm, situs solitus, levocardia, dilated right atrium and ventricle with venoatrial, atrioventricular and ventriculoarterial concordances. All cardiac valves were normal; cardiac crux was intact with separate mitral and tricuspid annuli (figure 1A-C and online supplementary video 1). Mild tricuspid regurgitation with peak velocity of 1.77 m/s was noted. There was no evidence of Ebstein's anomaly. Interventricular septum was intact. Pulmonary veins were seen entering left atrium (LA) without a retrocardiac chamber. Both aortic and ductal arches were adequate but with visualised in descending aorta. Three-vessel view showed (SVC) with normal spatial arrangement and sizes of aorta and pulmonary artery. Patent foramen ovale and patent ductus arteriosus were shunting normally. Inferior vena cava (IVC), hepatic and portal veins were normal. Significant hepatomegaly was seen without any evidence of hydrops. 10.1136/heartasia-2018-010998.supp1Supplementary data Figure 1(A) Fetal echocardiogram showing atrioventricular concordance with right atrium (RA) connected to morphological right ventricle and left atrium (LA) connected to morphological left ventricle (LV). Blue arrow depicts a large foramen ovale shunting from RA to LA. There is no retrocardiac chamber behind LA. (B) Three-vessel view in fetal echocardiogram showing normal right to left arrangement of superior vena cava (SVC), aorta (Ao) and pulmonary artery (PA). Interestingly, SVC is bigger than its neighbours which is against the norm. (C) Fetal short-axis echocardiographic view showing situs solitus with normal arrangement of RA and LA. RA is draining into right ventricle which is draining through PA into the ductal arch. However, significant aortic run-off is noted in aorta.
QUESTION
As per the available echocardiographic data, what is the most likely diagnosis for fetal heart failure?Idiopathic dilatation of SVC?Supracardiac total anomalous pulmonary venous connection?Fetal vein of Galen malformation?Fetal anaemia?
PubMed: 29636830
DOI: 10.1136/heartasia-2018-010998 -
Journal of Surgical Case Reports Jul 2022Situs inversus (SI) is a very rare congenital disease affecting one in 10 000 people. It is characterized by a mirror image transposition of both abdominal and thoracic...
Situs inversus (SI) is a very rare congenital disease affecting one in 10 000 people. It is characterized by a mirror image transposition of both abdominal and thoracic organs. Diagnosis of SI is usually made incidentally while investigating for unrelated medical problem. It can be associated with cardiac and respiratory anomalies that may cause perioperative morbidity if not diagnosed before surgery. There are limited case reports in literature of SI patients that underwent bariatric procedures. We report a case of a 32-year-old female with SI partialis and levocardia who successfully underwent laparoscopic sleeve gastrectomy. We concluded that sleeve gastrectomy is safe in patients with SI if diagnosed preoperatively and if all the necessary precautions are taken into consideration before and during the surgery.
PubMed: 35919692
DOI: 10.1093/jscr/rjac325 -
Annals of Medicine and Surgery (2012) Dec 2021Obesity is a worldwide pandemic and is closely associated with an increased risk of comorbidities and overall mortality. Surgery has emerged as an essential strategy to...
INTRODUCTION AND IMPORTANCE
Obesity is a worldwide pandemic and is closely associated with an increased risk of comorbidities and overall mortality. Surgery has emerged as an essential strategy to ameliorate obesity-attributable comorbidities and as a powerful weight-loss tool. Due to the increasing number of obese patients predicted to elect surgery, individuals with rare anomalies such as situs inversus can be expected.
CASE PRESENTATION
We present the case of a 49-year-old woman with situs inversus with levocardia. She had a high BMI and was admitted for bariatric surgery. After several adjustments to our technique, the procedure was completed without complications.
CLINICAL DISCUSSION
Laparoscopic bariatric surgeries are highly demanding; variations from the normal anatomy could challenge the medical team.
CONCLUSION
Preoperative diagnosis and highly trained surgeons is of paramount importance to adequately treat every patient.
PubMed: 34840772
DOI: 10.1016/j.amsu.2021.102972 -
Journal of Cardiology May 2017The right ventricle has a proclivity to wrap around the left ventricle outflow tract (LVOT) in congenitally corrected transposition (CCT) patients with apicocaval...
BACKGROUND
The right ventricle has a proclivity to wrap around the left ventricle outflow tract (LVOT) in congenitally corrected transposition (CCT) patients with apicocaval ipsilaterality, which may influence the outcome of the double switch operation (DSO). The goal of this study was to determine if the LVOT is compressed by the right ventricle in this setting.
METHODS
A total of 103 patients with CCT were divided into four groups according to ventricular looping and apical position, including Group A (D-loop and levocardia), Group B (L-loop and dextrocardia), Group C (D-loop and dextrocardia), and Group D (L-loop and levocardia). Computed tomography was used to define left-right laterality and ventro-dorsal relationship of the LVOT.
RESULTS
Apicocaval ipsilaterality was found in 57 patients (Group A, n=25; Group B, n=32), in whom the right ventricle was found to wrap around the LVOT. Among them, 49 (86%) had LVOT obstruction. In 46 patients without apicocaval ipsilaterality (Group C, n=10; Group D, n=36), 31 had LVOT obstruction (67.4%). LVOT obstruction was more prone to occur in patients with apicocaval ipsilaterality compared with those without (p=0.025), and was more significant in the situs solitus (p=0.058) than in situs inversus (p=0.547).
CONCLUSIONS
LVOT obstruction was prone to occur in CCT patients with situs solitus and apicocaval ipsilaterality (Group B). The ventricular outflow patency was influenced by apical position, which should be considered to avoid a posterior ventricular outflow tract from compression after DSO.
Topics: Adolescent; Child; Female; Heart Ventricles; Humans; Male; Retrospective Studies; Situs Inversus; Transposition of Great Vessels; Ventricular Outflow Obstruction
PubMed: 27842759
DOI: 10.1016/j.jjcc.2016.07.019 -
British Heart Journal Nov 1963
Review
Topics: Birth Weight; Consanguinity; Dextrocardia; Embryology; Genetics, Medical; Heart Defects, Congenital; Humans; Levocardia; Seasons; Situs Inversus
PubMed: 14072604
DOI: 10.1136/hrt.25.6.803 -
Taiwanese Journal of Obstetrics &... Feb 2015Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization (aCGH) is useful in pregnancy with abnormal ultrasound... (Review)
Review
Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia.
OBJECTIVE
Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization (aCGH) is useful in pregnancy with abnormal ultrasound findings. The purpose of this report is to report a case of right congenital diaphragmatic hernia (CDH) associated with trisomy 21 diagnosed prenatally by aCGH and to review the literature of chromosomal abnormalities associated with CDH.
CASE REPORT
A 29-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal CDH. The pregnancy was uneventful until 25 weeks of gestation when level II ultrasound detected isolated right CDH. Ultrasound showed that the liver and gallbladder were located in the right hemithorax, and there was levocardia. Fetal magnetic resonance imaging confirmed the diagnosis of right CDH with the gallbladder and part of the liver appearing in the right hemithorax and the heart shifting to the left hemithorax. Amniocentesis was immediately performed. About 10 mL of amniotic fluid was sent for aCGH analysis by use of the DNA extracted from uncultured amniocytes, and 20 mL of amniotic fluid was sent for conventional cytogenetic analysis. aCGH analysis revealed the result of arr 21p11.2q22.3 (9,962,872-48,129,895) × 3, consistent with the diagnosis of trisomy 21. Conventional cytogenetics revealed a karyotype of 47,XY,+21. Postnatally, polymorphic DNA marker analysis using DNAs extracted from the placenta and parental bloods showed a heterozygous extra chromosome 21 of maternal origin consistent with the result of maternal meiosis I nondisjunction.
CONCLUSION
Prenatal diagnosis of right CDH should raise a suspicion of chromosomal abnormalities especially trisomy 21 and the association of Morgagni hernia.
Topics: Abnormalities, Multiple; Adult; Amniocentesis; Chromosomes, Human, Pair 21; Comparative Genomic Hybridization; Down Syndrome; Female; Genetic Counseling; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Karyotype; Magnetic Resonance Imaging; Male; Pregnancy; Prenatal Diagnosis
PubMed: 25675923
DOI: 10.1016/j.tjog.2014.12.001 -
The British Journal of Radiology Oct 2019Viscero-atrial situs encompasses the laterality, relative position and configuration of the abdominal viscera, the atria of the heart and the tracheobronchial tree....
Viscero-atrial situs encompasses the laterality, relative position and configuration of the abdominal viscera, the atria of the heart and the tracheobronchial tree. Determining the situs and cardiac position is the first step in the commonly used sequential, segmental approach to the imaging evaluation of congenital heart defects (CHD). Abnormalities of visceroatrial situs and cardiac position are frequently associated with the presence of complex CHDs and accurate assessment of situs abnormalities can help predict the probability and type of the defect. Multidetector CT (MDCT) angiography, with its multiplanar reformatting and volume rendering techniques, offers accurate information about the morphology and three-dimensional relationships of the various cardiac and extra cardiac structures. In this pictorial essay, we present the MDCT imaging findings of the spectrum of abnormalities of visceroatrial situs and cardiac position, using a third generation dual source CT scanner.
Topics: Bronchi; Computed Tomography Angiography; Heart; Heart Atria; Heart Defects, Congenital; Humans; Levocardia; Liver; Multidetector Computed Tomography; Stomach; Trachea; Viscera
PubMed: 31271542
DOI: 10.1259/bjr.20190231 -
Journal of Medical Case Reports Mar 2021Bilateral congenital diaphragmatic hernia (CDH) is very rare. A few studies have reported the pathogenic role of 5p in CDH.
BACKGROUND
Bilateral congenital diaphragmatic hernia (CDH) is very rare. A few studies have reported the pathogenic role of 5p in CDH.
CASE PRESENTATION
A 23-year-old primigravida Japanese woman was referred for the following abnormal findings at 33 weeks of gestation: polyhydramnios, macroglossia, talipes equinovarus, and levocardia. A marker chromosome was detected by amniocentesis. Fluorescence in situ hybridization with whole chromosome paint 5 and nucleolus organizer region probes confirmed its origin from chromosome 5 and an acrocentric chromosome. The karyotype of the fetus was diagnosed as 47, XY, +mar. ish +mar(WCP5+). At 39 + 5 weeks, a 2462 g male infant was delivered, with a specific facial configuration. Bilateral CDH, hypoplasia of the corpus callosum, atrial septal defect, and hypothyroidism were also detected in the baby. The karyotype of the peripheral blood was consistent with that of the amniocentesis.
CONCLUSION
Genes coded on 5p might be associated with the pathogenesis of CDH; however, further investigation is required.
Topics: Adult; Female; Hernias, Diaphragmatic, Congenital; Humans; In Situ Hybridization, Fluorescence; Infant; Male; Mosaicism; Pregnancy; Prenatal Diagnosis; Trisomy; Young Adult
PubMed: 33750440
DOI: 10.1186/s13256-021-02710-y