Search Results (14)

Background: Ruptured intracranial aneurysms remain the subject of debate in their management, but the management of lesions located at high-risk locations, such as the hypophyseal artery, continue to prove to be a challenge in anatomical orientation and proximity to vascular structures. While endovascular therapies have changed the treatment paradigms, microsurgical clipping is the gold standard for wide-necked aneurysms for which endovascular techniques may be suboptimal. The successful treatment of a ruptured hypophyseal artery aneurysm in an elderly patient is described in this report, which highlights the importance of advanced imaging, careful technique, and new understanding of personalized aneurysm management. Methods: An 82-year-old woman was admitted with a thunderclap headache, alteration of consciousness and meningeal signs, suggestive of subarachnoid hemorrhage (SAH). A non-contrast computed tomography (CT) and digital subtraction angiography (DSA) confirmed a saccular 12 × 10 mm aneurysm with a broad 3.13 mm neck arising from the hypophyseal artery. The location and morphology of the aneurysm required microsurgical clipping, which was performed through a right pterional craniotomy. Results: Correct clip placement, complete exclusion of the aneurysm, and resorption of the subarachnoid blood were both observed on postoperative imaging. The neurological examination was completely normal, with no complications. Follow-up imaging at three months demonstrated stable, marked cerebral atrophy with compensatory ventricular enlargement without evidence of recurrence. Conclusions: This case illustrates the important role of micro-surgical clipping in anatomically complex aneurysms and its sustainable outcome and accuracy in cases where endovascular practices would have limitations. Advanced imaging, like three-dimensional DSA and intraoperative tools, have revolutionized precision surgery, allowing achievement of optimal outcomes, even for more-complicated cases. With an evolving, dynamic field and exciting new technologies coming to the fore—such as artificial intelligence to predict rupture risk and augmented reality navigation—decision-making and treatment of complex aneurysms will be optimized along secure pathways towards tailored, high-resolution treatment in the sense of personalized and yet high-precision care. Full article

An aorto-right ventricular fistula, a rare condition in humans, is characterized by communication between the ascending aorta and the right ventricle through a defect in the aortic wall. This report describes three cases of dogs with continuous murmurs: a 6-month-old Coton de Tulear, a 5-year-old Maltese, and a 6-month-old Jindo. Notably, all of the dogs presented with no severe clinical signs. Echocardiography revealed a turbulent jet through restrictive perimembranous ventricular septal defects (VSD) during systole and aorto-right ventricular fistulas secondary to ruptured sinuses of Valsalva aneurysm during diastole. In one case, a surgical closure of the VSD simultaneously resolved the aorto-right ventricular fistula. Follow-up echocardiography in the other two cases revealed mild left heart volume overload and a slight increase in the pulmonary-to-systemic blood flow ratio. However, the dogs remained asymptomatic. In conclusion, aorto-right ventricular fistulas with VSDs should be considered in the differential diagnosis of continuous murmurs in dogs. Full article

Coronary artery fistulas (CAFs) are rare congenital anomalies, presenting in 0.05–0.9% of cases, characterized by an aberrant connection between a coronary artery and a cardiac chamber or great vessel. Clinical manifestations can include heart failure, myocardial ischemia due to coronary steal, arrhythmias, or infective endocarditis. We report a case of a 39-year-old man initially evaluated in 2016 for peripheral edema and suspected right ventricular (RV) abnormality. Earlier assessments indicated a left anterior descending (LAD) coronary artery–RV fistula, but initial catheterization was nondiagnostic. Transthoracic echocardiography (TTE) revealed a dilated left coronary artery (LCA) and an RV apex aneurysm, confirmed by CT and coronary angiography, showing a 14 mm LAD fistula with large aneurysmal sacs (45.6 × 37.3 mm). Cardiac MRI demonstrated a tortuous LAD fistula draining into RV aneurysmal sacs with preserved biventricular function. Surgical intervention was recommended, but the patient declined and was lost to follow-up until 2022, being asymptomatic. Re-evaluation showed progression in aneurysm size (47 × 45 mm and 16 × 18 mm) without ventricular functional change. Follow-up TTE in 2023 indicated stable findings. This case emphasizes the necessity of multimodal imaging (TTE, CT, MRI, angiography) for CAF diagnosis and management planning. Given the variability in CAF presentation and outcomes, individualized management—including surgical, percutaneous, or conservative strategies—is crucial. Persistent follow-up is essential for monitoring potential complications and guiding treatment, even in asymptomatic patients refusing intervention. Full article

Coronary artery fistulas draining into the left ventricle is a rare finding. They can be associated with other congenital cardiac anomalies like ventricular septal defect or tetralogy of Fallot. While most of them are asymptomatic, they can lead to severe cardiac complications like infective endocarditis, heart failure, or myocardial ischemia. Symptomatic coronary artery fistulas can be managed surgically or percutaneously. We present a case of a 61-year-old male patient with both left anterior descending artery and right coronary artery fistulas draining into the left ventricle associated with ascending aorta and root aneurysm. Preoperative assessment for myocardial ischemia and the size and location of the fistulas was performed. The echocardiography stress test was negative. Surgery consisted of replacement of the ascending aorta and reconstruction of the noncoronary sinus with a Dacron patch with aortic valve preservation and no intervention for the coronary artery fistulas. The surgical strategy was adapted for cardioplegia administration to compensate for the volume of coronary blood drained into the left ventricle and for better protection of the distal myocardium. Full article

TRAF7-related disorders represent some of the rarest inherited disorders, exhibiting clinical features that overlap with cardiac, facial, and digital anomalies with developmental delay (CAFDADD) syndrome, as well as blepharophimosis-mental retardation syndrome (BMRS). A 36-year-old male, presenting with total blindness, blepharophimosis, and intellectual disability, was admitted for the assessment of resting dyspnea several months previously. He had a history of being diagnosed with obstructive sleep apnea (OSA). Transesophageal and transthoracic echocardiography unveiled right ventricular dilatation without significant pulmonary hypertension, bicuspid aortic valve with aortic root aneurysm, and aortic regurgitation in the proband. Sanger sequencing identified a de novo TRAF7 variant (c.1964G>A; p.Arg655Gln). Subsequently, aortic root replacement using the Bentall procedure was performed. However, despite the surgery, he continued to experience dyspnea. Upon re-evaluating OSA with polysomnography, it was discovered that continuous positive airway pressure support alleviated his symptoms. The underlying cause of his symptoms was attributed to OSA, likely exacerbated by the vertebral anomaly and short neck associated with CAFDADD syndrome. Clinicians should be attentive to the symptoms associated with OSA as it is a potentially serious medical condition in patients with TRAF7 variants. Full article

Cardiac sarcoidosis (CS) is a rare inflammatory disorder characterised by the presence of non-caseating granulomas within the myocardium. Contemporary studies have revealed that 25–30% of patients with systemic sarcoidosis have cardiac involvement, with detection rates increasing in the era of advanced cardiac imaging. The use of late gadolinium enhancement cardiac magnetic resonance and ¹⁸fluorodeoxy glucose positron emission tomography (FDG-PET) imaging has superseded endomyocardial biopsy for the diagnosis of CS. Echocardiography has historically been used as a screening tool with abnormalities triggering the need for advanced imaging, and as a tool to assess cardiac function. Regional wall thinning or aneurysm formation in a noncoronary distribution may indicate granuloma infiltration. Thinning of the basal septum in the setting of extracardiac sarcoidosis carries a high specificity for cardiac involvement. Abnormal myocardial echotexture and eccentric hypertrophy may be suggestive of active myocardial inflammation. The presence of right-ventricular involvement as indicated by free-wall aneurysms can mimic arrhythmogenic right-ventricular cardiomyopathy. More recently, the use of myocardial strain has increased the sensitivity of echocardiography in diagnosing cardiac involvement. Echocardiography is limited in prognostication, with impaired left-ventricular (LV) ejection fraction and LV dilatation being the only established independent predictors of mortality. More research is required to explore how advanced echocardiographic technologies can increase both the diagnostic sensitivity and prognostic ability of this modality in CS. Full article

Right ventricular (RV) aneurysm is a very rare ventricular lesion. An aneurysm is formed mainly as a complication of myocardial infarction (MI). As an RV aneurysm is a potentially life-threatening occurrence, its appropriate diagnosis is of great significance. However, right-sided heart diseases, especially RV aneurysms, have been neglected for years. Recent studies in the literature have elucidated the role of the right side of the heart in patients’ prognosis and response to treatment. However, RV aneurysm has been scarcely investigated, and most of the attention has been given to the left ventricular aneurysm in patients with ischemic heart diseases (IHD). Herein, we investigated a total of 625 patients with IHD referred for two-dimensional transthoracic echocardiography (2D TTE), among whom 18 were diagnosed with RV aneurysms through precise examination of several TTE views. The characteristics of these cases, including demographics, medical history, and results of cardiac tests (which the patients underwent previously), were recorded and presented. This study emphasized the importance of performing a meticulous 2D TTE evaluation and a thorough examination of different views by an expert echocardiographer, with special attention to the presence of an RV aneurysm in a patient suffering from IHD who presented either with acute coronary syndrome, including MI, or chronic IHD. The scarcity of information, especially in terms of complications and the most appropriate diagnostic methods, calls for further studies in this regard. Full article

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease, which is characterized by fibro-fatty replacement of predominantly the right ventricle (RV). The disease can result in ventricular tachyarrhythmias and sudden cardiac death. Our understanding of the pathophysiology and clinical expressivity of ARVC has been continuously evolving. The diagnosis can be challenging due to its variable expressivity, incomplete penetrance and the lack of specific diagnostic criteria. Idiopathic RV outflow tract tachycardia, Brugada Syndrome, athlete’s heart, dilated cardiomyopathy, myocarditis, cardiac sarcoidosis, congenital aneurysms and diverticula may mimic clinical phenotypes of ARVC. This review aims to provide an update on the differential diagnosis of ARVC. Full article

Considerable advances have occurred in the understanding of Kawasaki disease, with a substantial drop in morbidity and mortality following the infusion of gamma globulin during the acute phase. Nevertheless, major complications may still occur. A 27-year-old male presented as an infant of 11 weeks when he was diagnosed as having Kawasaki disease. He was appropriately treated with aspirin and a gamma globulin infusion following his diagnosis 5 days after the onset of his illness. Despite that, he went on to develop coronary aneurysms. He represented a few weeks later with a history of inconsolable crying associated with pallor, suggestive of ischaemic chest pain. A repeat echocardiogram revealed infarction of the apex of the left ventricle with localised thrombus formation. There were persistent aneurysms within both coronary artery systems. A further infusion of gamma globulin was given. In view of the thrombus formation, he was started on warfarin. The thrombus gradually resolved with the development of a clearly defined left ventricular apical aneurysm. He has remained on warfarin, aiming for an international normalised ratio (INR) level of 2 to 2.5. He developed mild left ventricular dysfunction during late childhood, which improved following the commencement of an angiotensin-converting enzyme (ACE) inhibitor. Despite his ventricular aneurysm, there has been no documented evidence of ventricular tachycardia over the years. Repeated testing initially by nuclear perfusion scans and then by stress echocardiograms failed to show any inducible ischaemia apart from the apical ventricular aneurysm. A recent computed tomography (CT) coronary angiogram revealed an ectatic origin of the left main and the right coronary arteries with mild calcification involving the mid-portion of the latter and slight calcification of the former. His raised cholesterol level has responded well to a statin. Despite the persistence of the ventricular aneurysm, he continues to be managed conservatively, as he has remained well. The question arises as to what the long-term implications are of his left ventricle apical aneurysm. Should it be excised? Is he at risk for ventricular tachycardia and sudden death? In addition, although the coronary aneurysms have resolved, the CT coronary angiogram shows calcium plaques in both coronary arteries at the site of the earlier aneurysms. This finding raises the question as to whether all children who develop coronary artery aneurysms following Kawasaki disease should have a CT coronary angiogram performed in adulthood. Full article

Uhl’s anomaly is a very rare malformation of unknown cause, characterized by complete or partial absence of the right ventricular myocardium. The cardiac malformation causes progressive right heart failure, increased right-sided cardiac pressure, massive peripheral edema, and ascites. Patients usually present in infancy and rarely survive to adulthood. Previously, diagnosis was made at post-mortem evaluation, but advances in cardiac imaging now permit diagnosis during fetal life. We report a case of Uhl’s anomaly in a newborn baby imaged at 23 + 3 weeks of gestation by fetal echocardiography. There was an aneurysmally dilated thin-walled right ventricle with hypertrophy of the right ventricular apical muscles, the tricuspid valve was dysplastic, and the pulmonary valve leaflets were absent. Full article

Transforming growth factor beta3 (TGFB3) gene mutations in patients of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD1) and Loeys-Dietz syndrome-5 (LDS5)/Rienhoff syndrome are associated with cardiomyopathy, cardiac arrhythmia, cardiac fibrosis, cleft palate, aortic aneurysms, and valvular heart disease. Although the developing heart of embryos express Tgfb3, its overarching role remains unclear in cardiovascular development and disease. We used histological, immunohistochemical, and molecular analyses of Tgfb3^−/− fetuses and compared them to wildtype littermate controls. The cardiovascular phenotypes were diverse with approximately two thirds of the Tgfb3^−/− fetuses having one or more cardiovascular malformations, including abnormal ventricular myocardium (particularly of the right ventricle), outflow tract septal and alignment defects, abnormal aortic and pulmonary trunk walls, and thickening of semilunar and/or atrioventricular valves. Ventricular septal defects (VSD) including the perimembranous VSDs were observed in Tgfb3^−/− fetuses with myocardial defects often accompanied by the muscular type VSD. In vitro studies using TGFβ3-deficient fibroblasts in 3-D collagen lattice formation assays indicated that TGFβ3 was required for collagen matrix reorganization. Biochemical studies indicated the ‘paradoxically’ increased activation of canonical (SMAD-dependent) and noncanonical (MAP kinase-dependent) pathways. TGFβ3 is required for cardiovascular development to maintain a balance of canonical and noncanonical TGFβ signaling pathways. Full article

Arrhythmogenic right ventricular dysplasia (ARVD) is an abnormality in the right side of the heart that may lead to sudden death. The study aims to compare cardiac MRI (magnetic resonance imaging findings) with echocardiography in patients with ARVD. For the cross-sectional study, patients with ARVD that were diagnosed using Task Force criteria were included, and their cardiac MRI findings were evaluated. Additionally, the right ventricle was divided into three levels—basal, middle, and apical—and each of them was also subdivided into three secondary segments. Gadolinium enhancement was evaluated in each segment. Overall, 39 patients were studied. Thirty-one patients (81%) were men. The average age of female and male patients was 37.8 ± 4.6 and 32.48 ± 5.8, respectively. The average ejection fraction found was 43 ± 9.4 and 42.8 ± 8.5% by MRI and echocardiography, respectively. Additionally, 46 and 35.8% of the patients had hypokinesia in the right ventricle, found based on MRI and echocardiography, respectively. The right ventricular aneurysm was found in 20.5 and 5.1% of patients based on MRI and echocardiography, respectively. The cardiac MRI managed to diagnose some cases which echocardiography was not able to detect. Thus, MRI plays an important role in presenting diagnostic data for the management of patients with ARVD and also making the diagnosis in suspicious patients definitive. Full article

Interventricular membranous septal (IVMS) aneurysm is a rare condition with no accurate incidence. It is known to be associated with 0.3 % of congenital heart disease and 19 % of ventricular septal defects. IVMS aneurysm is often asymptomatic but can be complicated with right ventricular obstruction, rupture, thromboembolism, and conduction defects. Clinicians and radiologist should be aware about this rare clinical entity and evaluation of any possible underlying cardiac abnormalities should be performed. Conservative management with close follow up is the mainstay of management in the absence of complication. Full article

In general aneurysms of the pulmonary arteries are less frequent than intracranial, aortic or other vascular locations. Infectious causes include bacteria such as Staphylococcus sp and Streptococcus sp, mycobacteria, Treponema pallidium (syphilis) and rarely fungi. We report a 7 year old female with two right-sided parahilar pseudo-aneurysm of fungal origin with a prior history of ventricular septal defect. Pulmonary mycotic pseudo-aneurysms are very rare and require a high suspicion to diagnose. If a patient is still symptomatic for fever and cough for a long time, and consolidation on x-ray is not improving on antibiotics, contrast-enhanced computed tomography is indicated. It can be suspected that the „friable mass attached to ventricular septal defect patch” was a source of fungeal emboli to pulmonary arteries thus giving weight to the infective endocarditis etiology. A prior history of ventricular septal defect repair could favour fungal endocarditis. Full article