-
Sichuan Da Xue Xue Bao. Yi Xue Ban =... May 2024Cantrell syndrome, a rare congenital disorder, is characterized by a unique collection of defects on the midline abdominal wall, the lower sternum, the anterior...
OBJECTIVE
Cantrell syndrome, a rare congenital disorder, is characterized by a unique collection of defects on the midline abdominal wall, the lower sternum, the anterior diaphragm, and the diaphragmatic pericardium in addition to some form of intracardiac defect. So far, most of the reports on fetuses with Cantrell syndrome worldwide are either case reports or literature reviews, and few comprehensive studies on fetuses with Cantrell syndrome have been reported, especially in domestic literature. This study aims to provide a detailed analysis of 15 cases of Cantrell syndrome fetuses, focusing on their prenatal ultrasound manifestations and postnatal examination outcomes.
METHODS
A retrospective analysis was conducted with 15 cases of fetuses diagnosed with Cantrell syndrome via prenatal ultrasound examinations between March 2018 and July 2023. Ultrasound examinations were performed in accordance with the Guidelines for Obstetric Ultrasound in China, including first-trimester fetal ultrasound scan and routine second-trimester fetal ultrasound scan. Gestational age was evaluated and nuchal translucency (NT) was measured during first-trimester fetal ultrasound scan at 11 to 13+6 weeks. The diagnostic criterion for NT thickening was NT≥3.0 mm and the screening of severe fetal structural malformations was performed, including the screening of the head, the neck, the thorax, the abdominal content, the abdominal wall, the limbs and other structures. During routine second-trimester fetal ultrasound scan, the fetal biometry was assessed and an anatomy survey was performed. Post-induction and postnatal outcomes of fetuses diagnosed with Cantrell syndrome by prenatal ultrasound were followed up by postnatal observation, inquiries with the electronic medical record system, or telephone follow-up. The prenatal ultrasound imaging manifestations and features of the fetuses with Cantrell syndrome, as well as their post-induction or postnatal examination results were comprehensively summarized and analyzed.
RESULTS
The study involved pregnant women of the average age of 30.1±3.5 years, with ultrasound diagnoses made between 11 to 26 weeks of gestation (mean: 13.4±4.0 weeks). Among the 15 cases, there were 10 singleton pregnancies and 5 cases of one twin in a pair of twins. These twins comprised 3 monochorionic diamniotic twins and 2 dichorionic diamniotic twins, with Cantrell syndrome present in one of the twins in all 5 cases. Thirteen cases were diagnosed by fetal ultrasound scan conducted in the first trimester, with 10 being singleton pregnancies and 3 being twin pregnancies (1 monochorionic diamniotic twins and 2 dichorionic diamniotic twins). One case was missed in the first-trimester ultrasound scan, resulting in a missed diagnosis rate of 7.1%. Two cases were diagnosed in second-trimester fetal ultrasound scan, both involving monochorionic diamniotic twins. One case was a referral from another hospital at 19 weeks, while the other was initially not diagnosed for Cantrell syndrome and was diagnosed at 26 weeks. Prenatal ultrasound examinations revealed a consistent pattern of abnormalities across all 15 fetuses, including manifestations of ectopic cordis combined with abdominal protrusion mass. Specifically, 4 cases were diagnosed with omphalocele, 4 with gastroschisis, and the remaining 7 had uncertain coverage of the membrane on the surface of the abdominal protrusion mass. Six fetuses had complete ectopic cordis, while nine had partial ectopic cordis. Fetal echocardiography was performed in 5 cases, revealing intracardiac malformations in 4 cases (80%). Notably, 2 cases were diagnosed in the second trimester, including one with right ventricular hypoplasia accompanied by interventricular septal defect and another with double outlet right ventricle accompanied by interventricular septal defect. Additionally, 2 cases were diagnosed in the first trimester, one with single atrium and single ventricle, and the other with complete transposition of the great arteries. Of the 15 cases of fetuses with Cantrell syndrome, 13 (86.7%) exhibited concomitant malformations in other systems. These included 7 cases of spinal malformations, 4 limb abnormalities, 3 umbilical cord abnormalities, 2 central nervous system malformations, 1 facial malformation, and 2 fetal hydrops. Spinal malformations were the most prevalent concomitant malformation, accounting for 46.7% of all cases. Among the 14 fetuses undergoing NT examination, 7 (50%) had increased NT, and 5 of them had cystic hygroma. All 10 singleton pregnancies underwent induced abortion, and the appearance of the induced fetuses was consistent with the prenatal ultrasound manifestations. In the twin pregnancies, 2 cases experienced intrauterine fetal death, while 2 underwent selective reduction. Notably, 3 of these cases exhibited postnatal appearances consistent with prenatal ultrasound manifestation, while 1 case showed an indistinct appearance after selective reduction during delivery. One case was lost to follow-up. Genetic testing was conducted for 4 induced fetuses, none of which yielded any relevant pathogenic or potentially pathogenic variants.
CONCLUSION
In conclusion, Cantrell syndrome manifests prenatally with ectopic cordis combined with abdominal protrusion mass, often accompanied by intracardiac malformations and other concomitant malformations. While most cases can be diagnosed in the first trimester, there remains the possibility of missed diagnoses, which underscores the importance of close follow-up in the second trimester.
PubMed: 38948286
DOI: 10.12182/20240560208 -
NeoReviews Jul 2024
Topics: Humans; Double Outlet Right Ventricle; Female; Pregnancy; Infant, Newborn; Ultrasonography, Prenatal; Follow-Up Studies; Adult
PubMed: 38945967
DOI: 10.1542/neo.25-7-e466 -
Heart Rhythm Jun 2024Many genetic non-ischemic dilated cardiomyopathies (NICM) cause ventricular tachycardias (VT) originating from scar substrate identified as areas of low electrogram...
BACKGROUND
Many genetic non-ischemic dilated cardiomyopathies (NICM) cause ventricular tachycardias (VT) originating from scar substrate identified as areas of low electrogram voltage. Substrate locations vary and the causes of scar are not well defined.
OBJECTIVE
This study evaluated VT substrate locations in genetic NICM patients undergoing VT ablation to evaluate spatial relationships between specific variants and substrate locations.
METHODS
In this retrospective case series analysis, 32 patients (age 55 +/- 16 years, 94% male, left ventricular ejection fraction 34 +/- 13%) with genetic NICM referred for VT ablation between October 2018 and November 2022 at a single medical center were evaluated. Scar locations were defined as areas of low unipolar/ bipolar voltage.
RESULTS
Of the thirty-two patients evaluated, mutations in TTN (n=11 of 32), LMNA (n=6 of 32), PKP2 (n=5 of 32), MYBPC3 (n=3 of 32), DSP (n=2 of 32), TTR (n=1 of 32), FLNC (n=1 of 32), AGL (n=1 of 32), DES (n=1 of 32), DSG2 (n=1 of 32), were observed. Substrates associated with mutations in TTN were only observed in basal subregions, predominantly anterior (100%), and septal (50%) regions. LMNA mutations were associated with fibrosis in mid inferolateral (60%) and apical inferolateral (60%) regions. Substrate location for individuals with PKP2 mutations were solely observed in the right ventricle, predominantly basal inferolateral regions.
CONCLUSION
Understanding spatial relationships between genetic variants causing NICM and VT substrate locations can help lead to generalizable regions in patients with genetically related NICM presenting in VT which can be investigated during ablation procedures.
PubMed: 38945504
DOI: 10.1016/j.hrthm.2024.06.047 -
BMC Pulmonary Medicine Jun 2024For patients with congenital heart disease-related pulmonary arterial hypertension (CHD-PAH), cardiopulmonary exercise testing (CPET) can reflect cardiopulmonary reserve...
BACKGROUND
For patients with congenital heart disease-related pulmonary arterial hypertension (CHD-PAH), cardiopulmonary exercise testing (CPET) can reflect cardiopulmonary reserve function. However, CPET may not be readily accessible for patients with high-risk conditions or limited mobility due to disability. Echocardiography, on the other hand, serves as a widely available diagnostic tool for all CHD-PAH patients. This study was aimed to identify the parameters of echocardiography that could serve as indicators of cardiopulmonary function and exercise capacity.
METHODS
A cohort of 70 patients contributed a total of 110 paired echocardiogram and CPET results to this study, with 1 year interval for repeated examinations. Echocardiography and exercise testing were conducted following standardized procedures, and the data were collected together with clinically relevant indicators for subsequent statistical analysis. Demographic comparisons were performed using t-tests and chi-square tests. Univariate and multivariate analyses were conducted to identify potential predictors of peak oxygen uptake (peak VO) and the carbon dioxide ventilation equivalent slope (VE/VCO slope). Receiver operating characteristic (ROC) analysis was used to assess the performance of the parameters.
RESULTS
The ratio of tricuspid annular plane systolic excursion to pulmonary artery systolic pressure (TAPSE/PASP) was found to be the only independent indicator significantly associated with both peak VO and VE/VCO slope (both p < 0.05). Additionally, left ventricular ejection fraction (LVEF) and right ventricular fractional area change (FAC) were independently correlated with the VE/VCO slope (both p < 0.05). TAPSE/PASP showed the highest area under the ROC curve (AUC) for predicting both a peak VO ≤ 15 mL/kg/min and a VE/VCO slope ≥ 36 (AUC = 0.91, AUC = 0.90, respectively). The sensitivity and specificity of TAPSE/PASP at the optimal threshold exceeded 0.85 for both parameters.
CONCLUSIONS
TAPSE/PASP may be a feasible echocardiographic indicator for evaluating exercise tolerance.
Topics: Humans; Female; Male; Exercise Test; Heart Defects, Congenital; Echocardiography; Adult; ROC Curve; Exercise Tolerance; Pulmonary Arterial Hypertension; Oxygen Consumption; Middle Aged; Young Adult; Hypertension, Pulmonary; Pulmonary Artery
PubMed: 38944669
DOI: 10.1186/s12890-024-03113-7 -
Progress in Cardiovascular Diseases Jun 2024The function of the right ventricle (RV) is to drive the forward flow of blood to the pulmonary system for oxygenation before returning to the left ventricle. Due to the... (Review)
Review
The function of the right ventricle (RV) is to drive the forward flow of blood to the pulmonary system for oxygenation before returning to the left ventricle. Due to the thin myocardium of the RV, its function is easily affected by decreased preload, contractile motion abnormalities, or increased afterload. While various etiologies can lead to changes in RV structure and function, sudden changes in RV afterload can cause acute RV failure which is associated with high mortality. Early detection and diagnosis of RV failure is imperative for guiding initial medical management. Echocardiographic findings of reduced tricuspid annular plane systolic excursion (<1.7) and RV wall motion (RV S' <10 cm/s) are quantitatively supportive of RV systolic dysfunction. Medical management commonly involves utilizing diuretics or fluids to optimize RV preload, while correcting the underlying insult to RV function. When medical management alone is insufficient, mechanical circulatory support (MCS) may be necessary. However, the utility of MCS for isolated RV failure remains poorly understood. This review outlines the differences in flow rates, effects on hemodynamics, and advantages/disadvantages of MCS devices such as intra-aortic balloon pump, Impella, centrifugal-flow right ventricular assist devices, extracorporeal membrane oxygenation, and includes a detailed review of the latest clinical trials and studies analyzing the effects of MCS devices in acute RV failure.
PubMed: 38944261
DOI: 10.1016/j.pcad.2024.06.009 -
Mathematical Biosciences Jun 2024Ventricular ventricular interaction (VVI) affects blood volume and pressure in the right and left ventricles of the heart due to the location and balance of forces on...
Ventricular ventricular interaction (VVI) affects blood volume and pressure in the right and left ventricles of the heart due to the location and balance of forces on the septal wall separating the ventricles. In healthy patients, the pressure of the left ventricle is considerably higher than the right, resulting in a septal wall that bows into the right ventricle. However, in patients with pulmonary hypertension, the pressure in the right ventricle increases significantly to a point where the pressure is similar to or surpasses that of the left ventricle during portions of the cardiac cycle. For these patients, the septal wall deviates towards the left ventricle, impacting its function. It is possible to study this effect using mathematical modeling, but existing models are nonlinear, leading to a system of algebraic differential equations that can be challenging to solve in patient-specific optimizations of clinical data. This study demonstrates that a simplified linearized model is sufficient to account for the effect of VVI and that, as expected, the impact is significantly more pronounced in patients with pulmonary hypertension.
PubMed: 38944112
DOI: 10.1016/j.mbs.2024.109242 -
International Journal of Surgery Case... May 2024Congenital gangrene of the limb in a newborn child is an extremely rare pathology with polyetiological causes that has not been fully studied. Therefore, each case of...
INTRODUCTION AND IMPORTANCE
Congenital gangrene of the limb in a newborn child is an extremely rare pathology with polyetiological causes that has not been fully studied. Therefore, each case of this pathology has its own characteristics of manifestations and allows you to get closer to solving this problem.
CASE PRESENTATION
We present a clinical case of congenital gangrene of the right upper limb in a newborn child. Analysis of the newborn baby's medical history indicated gestational hypertension and pyelonephritis during pregnancy in the mother, hemostasis disorders in the newborn. Computed tomography (CT) of the vessels of the right upper limb and thoracic segment confirmed brachial artery thrombosis. At the initial stage, conservative treatment was carried out, which included preventive antibacterial therapy and local care of the affected area. Only after a clear delineation of the dead tissue, the amputation of the segment of the right upper limb was performed. Amputation was performed with preservation of the proximal growth zone in order to provide an adequate stump for subsequent prosthetics.
CLINICAL DISCUSSION
Adverse factors during pregnancy can cause increased thrombosis. Through fetal communications, blood clots from the right atrium can enter the left atrium, the left ventricle and further into the large circulatory circle and cause thrombosis of the artery of the right upper limb. Another factor of increased thrombosis is congenital intrauterine infection of the newborn. Conservative treatment is carried out after diagnosis until the final determination of the boundaries of gangrene. When performing amputation, it is important to preserve the proximal bone growth zone in order to form an adequate stump for prosthetics.
CONCLUSION
Congenital gangrene of the limb in a newborn child is an extremely rare pathology. Irreversible changes in the upper limb in the child were caused by a combination of two factors: gestational hypertension and pyelonephritis in a pregnant woman and hemostasis disorders in a newborn due to intrauterine infection. Therefore, the preparation of women for pregnancy, examination for intrauterine infection and treatment of extragenital pathology are important in the prevention of this disease.
PubMed: 38943943
DOI: 10.1016/j.ijscr.2024.109738 -
Echocardiography (Mount Kisco, N.Y.) Jul 2024Uhl's anomaly is characterized by complete or partial absence of right ventricular myocardium. We describe a case of prenatally diagnosed Uhl's anomaly with...
Utility of the novel fetal heart quantification (fetal HQ) technique in diagnosing ventricular interdependence and biventricular dysfunction in a case of prenatally diagnosed Uhl's anomaly.
Uhl's anomaly is characterized by complete or partial absence of right ventricular myocardium. We describe a case of prenatally diagnosed Uhl's anomaly with biventricular dysfunction which was quantified with speckle tracking echocardiography using a novel fetal heart quantification (fetal HQ) technique.
Topics: Humans; Female; Pregnancy; Ultrasonography, Prenatal; Fetal Heart; Heart Defects, Congenital; Echocardiography; Adult; Heart Ventricles; Cardiomyopathy, Dilated
PubMed: 38943481
DOI: 10.1111/echo.15862 -
BMC Cardiovascular Disorders Jun 2024Pulmonary transit time (PTT) can be measured automatically from arterial input function (AIF) images of dual sequence first-pass perfusion imaging. PTT has been...
BACKGROUND
Pulmonary transit time (PTT) can be measured automatically from arterial input function (AIF) images of dual sequence first-pass perfusion imaging. PTT has been validated against invasive cardiac catheterisation correlating with both cardiac output and left ventricular filling pressure (both important prognostic markers in heart failure). We hypothesized that prolonged PTT is associated with clinical outcomes in patients with heart failure.
METHODS
We recruited outpatients with a recent diagnosis of non-ischaemic heart failure with left ventricular ejection fraction (LVEF) < 50% on referral echocardiogram. Patients were followed up by a review of medical records for major adverse cardiovascular events (MACE) defined as all-cause mortality, heart failure hospitalization, ventricular arrhythmia, stroke or myocardial infarction. PTT was measured automatically from low-resolution AIF dynamic series of both the LV and RV during rest perfusion imaging, and the PTT was measured as the time (in seconds) between the centroid of the left (LV) and right ventricle (RV) indicator dilution curves.
RESULTS
Patients (N = 294) were followed-up for median 2.0 years during which 37 patients (12.6%) had at least one MACE event. On univariate Cox regression analysis there was a significant association between PTT and MACE (Hazard ratio (HR) 1.16, 95% confidence interval (CI) 1.08-1.25, P = 0.0001). There was also significant association between PTT and heart failure hospitalisation (HR 1.15, 95% CI 1.02-1.29, P = 0.02) and moderate correlation between PTT and N-terminal pro B-type natriuretic peptide (NT-proBNP, r = 0.51, P < 0.001). PTT remained predictive of MACE after adjustment for clinical and imaging factors but was no longer significant once adjusted for NT-proBNP.
CONCLUSIONS
PTT measured automatically during CMR perfusion imaging in patients with recent onset non-ischaemic heart failure is predictive of MACE and in particular heart failure hospitalisation. PTT derived in this way may be a non-invasive marker of haemodynamic congestion in heart failure and future studies are required to establish if prolonged PTT identifies those who may warrant closer follow-up or medicine optimisation to reduce the risk of future adverse events.
Topics: Humans; Heart Failure; Male; Female; Middle Aged; Aged; Predictive Value of Tests; Time Factors; Prognosis; Ventricular Function, Left; Myocardial Perfusion Imaging; Stroke Volume; Risk Factors; Pulmonary Circulation; Natriuretic Peptide, Brain; Peptide Fragments; Pulmonary Artery; Risk Assessment; Ventricular Function, Right; Magnetic Resonance Imaging
PubMed: 38943084
DOI: 10.1186/s12872-024-04003-w -
Journal of the American Society of... Jun 2024Cardiac amyloidosis is a diffuse disease affecting all cardiac chambers. The value of right ventricular free-wall (RVfw) strain is uncertain as an echocardiographic red...
AIMS
Cardiac amyloidosis is a diffuse disease affecting all cardiac chambers. The value of right ventricular free-wall (RVfw) strain is uncertain as an echocardiographic red flag. We hypothesized that RVfw strain is of added value for diagnostic and prognostic purposes in patients with transthyretin cardiac amyloidosis (ATTR-CA).
METHOD
ATTR-CA diagnosis required positive Tc-99m pyrophosphate (PYP) scintigraphy and negative serum clonal dyscrasia. Patients with left ventricular hypertrophy (LVH) (interventricular septal thickness ≥1.2cm) by echocardiography and negative PYP scintigraphy served as controls after exclusion of AL-CA. Longitudinal strain was computed with speckle tracking echocardiography.
RESULTS
We studied, 108 subjects with ATTR-CA and 106 controls with LVH, retrospectively. RVfw strain was independently associated with the diagnosis of ATTR-CA after adjusting for classical echocardiographic parameters, namely, relative apical sparing (RAS), e' and E/e'. RVfw strain ≥-16% was incremental to LV RAS in the overall group and in the subgroup without extreme wall thickness (≤1.4 cm) (Harrell's-C, net reclassification improvement (NRI) = 0.213, p<0.001and NRI 0.463, p=0.015, respectively). Major adverse cardiovascular and cerebrovascular events (MACCE: heart failure hospitalization, stroke, death) occurred in 47 ATTR-CA patients, during follow-up (median: 38, range: 6-60 months). RVfw strain ≥-16% was associated with 3-fold increased risk of MACCE in ATTR-CA patients independently of age, comorbidities, BNP and tafamidis treatment. RVfw strain was additive to LVEF for risk stratification (X 10.2, p =0.017).
CONCLUSION
RVfw strain >-16% has incremental value to LV RAS for the differential diagnosis of ATTR-CA among LVH phenotypes, and is associated with poor prognosis.
PubMed: 38942217
DOI: 10.1016/j.echo.2024.06.006