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Journal of Veterinary Cardiology : the... Apr 2024To echocardiographically evaluate a large number of apparently healthy Czechoslovakian wolfdogs (CWDs) to identify possible subclinical cardiac abnormalities and to...
INTRODUCTION
To echocardiographically evaluate a large number of apparently healthy Czechoslovakian wolfdogs (CWDs) to identify possible subclinical cardiac abnormalities and to generate reference intervals.
ANIMALS
One-hundred and seventeen apparently healthy client-owned CWDs.
MATERIALS AND METHODS
Standard two-dimensional, M-mode, and Doppler echocardiographic measurements were obtained on non-sedated, manually restrained standing dogs. Animals with no relevant echocardiographic abnormalities were used to generate reference intervals. Echocardiographic variables were compared between males and females and between dogs with and without mitral regurgitation (MR).
RESULTS AND DISCUSSION
Among the 117 CWDs, 103 dogs were used to generate reference intervals. The 14 dogs with abnormalities had more than trivial MR (12 dogs), subaortic stenosis (one dog), and equivocal subaortic stenosis (one dog). The 44 males were heavier than 59 females (P<0.001) and had a larger maximum left atrial dimension (P=0.015), left ventricular internal dimension at end-diastole (P<0.001) and systole (P<0.001), and thicker interventricular septum thickness at end-diastole (P=0.016). A positive linear correlation was identified between bodyweight and aortic root and left atrial diameters and left ventricular dimensions and between age and aortic root and left atrial diameter and peak late transmitral flow velocity. A negative linear correlation was identified between age and peak early transmitral flow velocity and the ratio between peak early and late transmitral flow velocities. No differences in echocardiographic-derived cardiac dimensions were detected between healthy dogs and dogs with more than trivial MR.
CONCLUSIONS
In this population of CWDs, subclinical cardiac abnormalities were uncommon, and they were mainly classified as MR.
PubMed: 38705085
DOI: 10.1016/j.jvc.2024.04.002 -
American Journal of Ophthalmology Case... Jun 2024To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel variant in a pediatric patient with congenital cataracts, microphthalmia, persistent...
Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with -associated oculo-facio-cardio-dental (OFCD) syndrome.
PURPOSE
To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photoreceptor atrophy.
OBSERVATIONS
A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia. Examination under anesthesia revealed persistent fetal vasculature (PFV) with peripheral avascularity, foveal photoreceptor atrophy, and focal chorioretinal hyperpigmentation. A bilateral lensectomy with anterior vitrectomy and posterior capsulotomy were performed. Genetic testing identified a novel heterozygous pathogenic variant in the gene (c.1612C > T (p.Gln538Ter)), confirming a diagnosis of OFCD syndrome.
CONCLUSIONS AND IMPORTANCE
This case describes novel posterior segment findings in a patient with OFCD. A detailed examination of both anterior and posterior segments in combination with multimodal imaging should be performed in patients suspected of having OFCD, as this may be critical in determining visual potential and appropriate surgical management.
PubMed: 38699441
DOI: 10.1016/j.ajoc.2024.102060 -
Diagnostics (Basel, Switzerland) Apr 2024Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype...
Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome. Twenty-two patients presented with pathogenic variants in the gene. Comprehensive clinical assessments were performed. A literature review was conducted to summarize the spectrum of CHDs in patients with Kabuki syndrome. In total, 16 (73.9%) of 22 patients with pathogenic variants had CHDs. The most common types of CHD were atrial septal defects (37.5%), ventricular septal defects (18.8%), coarctation of the aorta (18.8%), bicuspid aortic valve (12.5%), persistent left superior vena cava (12.5%), mitral valve prolapse (12.5%), mitral regurgitation (12.5%), and patent ductus arteriosus (12.5%). Other cardiac abnormalities were less common. Further, there were no clear genotype-phenotype correlations found. A literature review revealed similar patterns of CHDs, with a predominance of left-sided obstructive lesions and septal defects. In conclusion, the most common types of CHDs in Taiwanese patients with Kabuki syndrome who presented with mutations are left-sided obstructive lesions and septal defects.
PubMed: 38667491
DOI: 10.3390/diagnostics14080846 -
Texas Heart Institute Journal Apr 2024Klippel-Feil syndrome, characterized by congenital fusion of any 2 or more cervical vertebrae, is a rare disorder in which skeletal and other organ system-related...
Klippel-Feil syndrome, characterized by congenital fusion of any 2 or more cervical vertebrae, is a rare disorder in which skeletal and other organ system-related abnormalities have been reported. This article reports a case of mitral valve regurgitation in a patient with Klippel-Feil syndrome and related thoracic deformity who underwent mitral valvuloplasty. Postoperatively, the mitral valve regurgitation disappeared, and there has been no recurrence for 3 years. This case highlights mitral valvuloplasty via median sternotomy as an excellent treatment for mitral valve regurgitation in a patient with thoracic deformity related to Klippel-Feil syndrome.
Topics: Adult; Humans; Male; Balloon Valvuloplasty; Klippel-Feil Syndrome; Mitral Valve; Mitral Valve Insufficiency; Sternotomy; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 38665003
DOI: 10.14503/THIJ-23-8282 -
BMJ Case Reports Apr 2024A pulmonary venous aneurysm (PVA) is extremely rare. A PVA can be either congenital or acquired. Possible symptoms include thoracic pain, dyspnoea, haemoptysis and... (Review)
Review
A pulmonary venous aneurysm (PVA) is extremely rare. A PVA can be either congenital or acquired. Possible symptoms include thoracic pain, dyspnoea, haemoptysis and palpitations but can also occur asymptomatically. Treatment can be conservative or surgical depending on growth and risk of rupture or development of mitral insufficiency, symptoms and thrombus formation. Only a few cases have been described in the literature. A recent case study and a literature review are described below.
Topics: Humans; Male; Aneurysm; Lung; Pulmonary Veins; Tomography, X-Ray Computed; Aged, 80 and over
PubMed: 38663900
DOI: 10.1136/bcr-2023-257519 -
European Heart Journal. Cardiovascular... Apr 2024Echocardiographic assessment of cancer-associated non-bacterial thrombotic endocarditis (Ca-NBTE) is limited to cases reports and small clinical series. Identifying...
AIMS
Echocardiographic assessment of cancer-associated non-bacterial thrombotic endocarditis (Ca-NBTE) is limited to cases reports and small clinical series. Identifying heart valves abnormalities and its relation to embolic complications and cancer types.
METHODS AND RESULTS
Manual review of echocardiographic images and medical records of Mayo Clinic patients (03/31/2002-06/30/2022) was performed. Ca-NBTE in 111 patients (mean age 63.2±9.7 years, 66.7% female) predominantly affected mitral valves (MV) (69), 56 aortic (AV), 8 tricuspid (TV) and rarely pulmonic (PV) (1). In 18 patients 2 valves were involved, 3 and 4 valves involvement in only a single patient each. Embolic complications were prevalent (n=102, 91.9%). Ca-NBTE affected MV more frequently the on upstream (atrial) (90% vs 49.3%) and TV downstream (ventricular) side (75% vs 37.5%). NBTE size (cm) varied significantly among valves, with TV hosting the largest masses (0.63-2.40 x 0.39-1.77), compared to MV [(0.11-1.81 x 0.11-1.62), (length p=0.001; width p=0.03)], and to AV [(0.20-2.70 x 0.11-1.51), (length p=0.001; width p=0.056)]; MV masses were borderline longer in systemic compared to cerebral emboli (p=0.057). Majority of MV (79.6%) and AV (69.6%) had thickened leaflets. NBTE lesions commonly affected closing margins (73.9%MV, 85.7% AV, and 62.5% of TV), but rarely commissures of MV (8.7%), yet fairly frequently of AV (41.1%). Five patients had severe regurgitation of MV and 5 AV.
CONCLUSION
Ca-NBTE manifests mainly as thrombotic mobile masses attached to thickened MV and AV, with distinct variations in size based on valve type. Embolic destination but not cancer type is associated with NBTE mass size, and location.
PubMed: 38662461
DOI: 10.1093/ehjci/jeae112 -
Arteriosclerosis, Thrombosis, and... Jul 2024Myxomatous valve disease (MVD) is the most common cause of mitral regurgitation, leading to impaired cardiac function and heart failure. MVD in a mouse model of Marfan...
BACKGROUND
Myxomatous valve disease (MVD) is the most common cause of mitral regurgitation, leading to impaired cardiac function and heart failure. MVD in a mouse model of Marfan syndrome includes valve leaflet thickening and progressive valve degeneration. However, the underlying mechanisms by which the disease progresses remain undefined.
METHODS
Mice with gene variant recapitulate histopathologic features of Marfan syndrome, and Wnt (Wingless-related integration site) signaling activity was detected in (T-cell factor/lymphoid enhancer factor-β-galactosidase) reporter mice. Single-cell RNA sequencing was performed from mitral valves of wild-type and mice at 1 month of age. Inhibition of Wnt signaling was achieved by conditional induction of the secreted Wnt inhibitor Dkk1 (Dickkopf-1) expression in periostin-expressing valve interstitial cells of -Cre; mice. Dietary doxycycline was administered for 1 month beginning with MVD initiation (1-month-old) or MVD progression (2-month-old). Histological evaluation and immunofluorescence for ECM (extracellular matrix) and immune cells were performed.
RESULTS
Wnt signaling is activated early in mitral valve disease progression, before immune cell infiltration in mice. Single-cell transcriptomics revealed similar mitral valve cell heterogeneity between wild-type and mice at 1 month of age. Wnt pathway genes were predominantly expressed in valve interstitial cells and valve endothelial cells of mice. Inhibition of Wnt signaling in mice at 1 month of age prevented the initiation of MVD as indicated by improved ECM remodeling and reduced valve leaflet thickness with decreased infiltrating macrophages. However, later, Wnt inhibition starting at 2 months did not prevent the progression of MVD.
CONCLUSIONS
Wnt signaling is involved in the initiation of mitral valve abnormalities and inflammation but is not responsible for later-stage valve disease progression once it has been initiated. Thus, Wnt signaling contributes to MVD progression in a time-dependent manner and provides a promising therapeutic target for the early treatment of congenital MVD in Marfan syndrome.
Topics: Animals; Wnt Signaling Pathway; Disease Progression; Fibrillin-1; Disease Models, Animal; Mitral Valve; Mice; Intercellular Signaling Peptides and Proteins; Mice, Transgenic; Marfan Syndrome; Mitral Valve Insufficiency; Mice, Inbred C57BL; Inflammation; Male; Female; Cell Adhesion Molecules; Adipokines
PubMed: 38660802
DOI: 10.1161/ATVBAHA.123.320388 -
PloS One 2024Echogenic Intracardiac Foci (EIF) are non-structural markers identified during the routine 18-20-week foetal anomaly ultrasound scan yet their clinical significance on...
BACKGROUND
Echogenic Intracardiac Foci (EIF) are non-structural markers identified during the routine 18-20-week foetal anomaly ultrasound scan yet their clinical significance on future outcomes for the infant is unclear.
OBJECTIVE
To examine the association between EIF and risk of preterm birth, chromosomal abnormalities, and cardiac abnormalities.
DESIGN
A review across four databases to identify English language journal articles of EIF using a cohort study design. All studies were reviewed for quality using the Critical Appraisal Skills Programme (CASP) checklist and data extracted for comparison and analysis.
RESULTS
19 papers from 9 different countries were included. Combining these studies showed 4.6% (95% CI = 4.55-4.65%) of all pregnancies had EIF which was on the left in 86% of cases, on the right in 3% of cases and bilaterally in 10%. There was no evidence that EIF was associated with higher rates of preterm birth. However, it is possible that infants with EIF were more likely to be terminated rather than be born preterm as there was a 2.1% (range 0.3-4.2%) rate of termination or death of the foetus after week 20 among those with EIF. There was no evidence that EIF alone is highly predictive of chromosomal abnormalities. There was evidence that EIF is associated with higher rates of minor cardiac abnormalities (e.g. ventricular septal defect, tricuspid regurgitation or mitral regurgitation)) with 5.1% (224 of 4385) of those with EIF showing cardiac abnormalities (3.08% in retrospective studies and 17.85% in prospective studies). However, the risk of cardiac defects was only higher with right-sided EIF and where the EIF persisted into the third trimester. However, this is a rare event and would be seen in an estimated 4 per 10,000 pregnancies.
CONCLUSION
EIF alone was not associated with adverse outcomes for the infant. Only persistent EIF on the right side showed evidence of carrying a higher risk of cardiac abnormality and would warrant further follow-up.
Topics: Female; Humans; Pregnancy; Chromosome Aberrations; Heart Defects, Congenital; Pregnancy Outcome; Pregnancy Trimester, Second; Premature Birth; Ultrasonography, Prenatal
PubMed: 38648215
DOI: 10.1371/journal.pone.0298365 -
Fetal Diagnosis and Therapy Apr 2024No evidence-based protocols exist for fetal cardiac monitoring during fetoscopic myelomeningocele (fMMC) repair and intraprocedural spectral Doppler data are limited. We...
INTRODUCTION
No evidence-based protocols exist for fetal cardiac monitoring during fetoscopic myelomeningocele (fMMC) repair and intraprocedural spectral Doppler data are limited. We determined the feasibility of continuous fetal echocardiography during fMMC repair and correlated Doppler changes with qualitative fetal cardiac function during each phase of fMMC repair.
METHODS
Patients undergoing fMMC repair had continuous fetal echocardiography interpreted in real-time by pediatric cardiology. Fetal data included fetal heart rate (FHR), qualitative cardiac function, mitral and tricuspid valve inflow waveforms, and umbilical artery (UA), umbilical vein (UV), ductus arteriosus (DA), and ductus venosus (DV) Dopplers.
RESULTS
UA abnormalities were noted in 14/25 patients, UV abnormalities were observed in 2 patients, and DV and DA abnormalities were each noted in 4 patients. Qualitative cardiac function was normal for all patients with the exception of one with isolated left ventricular dysfunction during myofascial flap creation, concurrent with an abnormal UA flow pattern. All abnormalities resolved by the first postoperative day.
CONCLUSIONS
Continuous fetal echocardiography was feasible during all fMMC repairs. Spectral Doppler changes in the UA were common during fMMC procedures but qualitative cardiac dysfunction was rare. Abnormalities in the UV, DV, and DA Dopplers, FHR, and cardiac function were less common findings.
PubMed: 38643759
DOI: 10.1159/000538122