scholarly journals Hepatic Tumor as Antenatal Presentation of Costello Syndrome

2020 ◽  
Author(s):  
Chusana Petpichetchian ◽  
Richard Brown ◽  
Gabriel Altit ◽  
Karl Muchantef ◽  
Isabelle De Bie
Keyword(s):  
De Novo ◽  
Left Ventricular ◽  
Left Ventricular Cavity ◽  
Costello Syndrome ◽  
Fetal Head ◽  
Tumor Embolization ◽  
Abnormal Posture ◽  
Ultrasound Findings ◽  
Complete Obliteration ◽  
Congenital Hemangioma

A large hepatic mixed echoic mass occupying the left fetal abdomen was identified at 266/7 weeks. The mass showed peripheral and internal vascularity. Other ultrasound findings included edema of the fetal head and face, macrosomia, shortened long bones, abnormal posture of hands, small stomach, polyhydramnios and biventricular hypertrophy. Fetal magnetic resonance imaging confirmed a hypervascular mass replacing the lateral left hepatic lobe, suggestive of a congenital hemangioma. The fetus was delivered by cesarean section at 282/7 weeks. The baby was stabilized at day 3 of life, and underwent successful selective tumor embolization. The baby remained stable for 3 days, then deteriorated with a progressive thickening of the myocardium. The child then passed away on day 11 from severe progressive hypertrophic cardiomyopathy, with almost complete obliteration of the left ventricular cavity; an autopsy was declined. Postnatal investigations reported a de novo heterozygous pathogenic HRAS variant (NM_005343.3(HRAS): c.35_36 delinsTT, p.Gly21Val), previously reported in 8 cases associated with the early, lethal form of Costello syndrome.

Phenotypic and Genetic Characteristics of Five Korean Patients with Costello Syndrome

2019 ◽  
Vol 158 (4) ◽  
pp. 184-191 ◽  
Author(s):  
Naye Choi ◽  
Jung Min Ko ◽  
Seung Han Shin ◽  
Ee Kyung Kim ◽  
Han Suk Kim ◽  
...  
Keyword(s):  
De Novo ◽  
Genetic Disorder ◽  
Left Ventricular ◽  
Mitogen Activated Protein Kinase ◽  
Alveolar Type ◽  
Costello Syndrome ◽  
De Novo Mutations ◽  
Genetic Characteristics ◽  
Korean Patients ◽  
Skeletal Defects

Costello syndrome (CS) is a rare genetic disorder characterized by distinctive facial appearance, cardiopulmonary complications, severe growth retardation, skin and skeletal defects, developmental delay, and tumor predisposition. CS is caused by heterozygous de novo mutations in the proto-oncogene HRAS, which is a component of the RAS/mitogen-activated protein kinase pathway. Herein, we reviewed the phenotypic and genetic features of 5 Korean patients who were genetically diagnosed with CS. Atrial tachycardia and polyhydramnios, which are important prenatal features for CS, were observed in 4 and 5 patients, respectively. The distinctive coarse facial appearances of the patients and presence of deep palmoplantar creases supported the clinical diagnosis of CS, which was confirmed by HRAS sequence analysis. Extremely poor postnatal growth was observed in all 5 patients. Further, all patients exhibited cardiac abnormalities; left ventricular hypertrophy and hypertrophic cardiomyopathy were observed in 3 patients. All 5 patients suffered from airway problems; 3 of them required intubation right after birth, and 2 of them received tracheostomy. One patient with a p.Gly12Ser mutation was diagnosed with retroperitoneal rhabdomyosarcoma alveolar type at the age of 5 years. Consistent with previous reports, both patients with p.Gly12Cys mutations died within the first year of life due to cardiopulmonary failure. Our study summarizes the characteristics of these 5 Korean patients with CS and, along with previous studies, provides clues for genotype-phenotype correlation in patients with CS.

A dreadful sign of aortic dissection: Aortic intimo-intimal intussusception with prominent intimal flap prolapsing into the left ventricular apex

VASA ◽  
2009 ◽  
Vol 38 (2) ◽  
pp. 181-184 ◽  
Author(s):  
Ozer ◽  
Davutoglu ◽  
Burma ◽  
Sucu ◽  
Sarı
Keyword(s):  
Aortic Dissection ◽  
Clinical Presentation ◽  
Left Ventricular ◽  
Left Ventricular Cavity ◽  
Acute Type ◽  
Clinical Form ◽  
Intimal Flap ◽  
Acute Type A Dissection ◽  
Type A Dissection ◽  
Intimal Intussusception

Intimo-intimal intussusception is an unusual clinical form of aortic dissection resulting from circumferential detachment of the intima. Clinical presentation varies according to the level of detached intima in the aorta. We present a case of acute type A dissection with prominent prolapse of the circumferential detachment intimal flap into the left ventricular cavity extended to the apex.

scholarly journals Can mechanical circulatory support be an effective treatment for HFpEF patients?

2021 ◽  
Author(s):  
Einar Gude ◽  
Arnt E. Fiane
Keyword(s):  
Heart Failure ◽  
Ejection Fraction ◽  
Mechanical Circulatory Support ◽  
Left Ventricular ◽  
Ventricular Assist Devices ◽  
Left Ventricular Cavity ◽  
Circulatory Support ◽  
Left Ventricular Assist Devices ◽  
Mechanical Pressure ◽  
Entry Points

AbstractHeart failure with preserved ejection fraction (HFpEF) is increasing in prevalence and represents approximately 50% of all heart failure (HF) patients. Patients with this complex clinical scenario, characterized by high filling pressures, and reduced cardiac output (CO) associated with progressive multi-organ involvement, have so far not experienced any significant improvement in quality of life or survival with traditional HF treatment. Left ventricular assist devices (LVAD) have offered a new treatment alternative in terminal heart failure patients with reduced ejection fraction (HFrEF), providing a unique combination of significant pressure and volume unloading together with an increase in CO. The small left ventricular cavity in HFpEF patients challenges left-sided pressure unloading, and new anatomical entry points need to be explored for mechanical pressure and volume unloading. Optimized and pressure/volume-adjusted mechanical circulatory support (MCS) devices for HFrEF patients may conceivably be customized for HFpEF anatomy and hemodynamics. We have developed a long-term MCS device for HFpEF patients with atrial unloading in a pulsed algorithm, leading to a significant reduction of filling pressure, maintenance of pulse pressure, and increase in CO demonstrated in animal testing. In this article, we will discuss HFpEF pathology, hemodynamics, and the principles behind our novel MCS device that may improve symptoms and prognosis in HFpEF patients. Data from mock-loop hemolysis studies, acute, and chronic animal studies will be presented.

De Novo Aortic Regurgitation After Continuous-Flow Left Ventricular Assist Device Implantation

2014 ◽  
Vol 98 (3) ◽  
pp. 850-857 ◽  
Author(s):  
Nikhil Prakash Patil ◽  
Anton Sabashnikov ◽  
Prashant N. Mohite ◽  
Diana Garcia ◽  
Alexander Weymann ◽  
...  
Keyword(s):  
Aortic Regurgitation ◽  
Left Ventricular Assist Device ◽  
Ventricular Assist Device ◽  
Continuous Flow ◽  
De Novo ◽  
Left Ventricular ◽  
Assist Device ◽  
Ventricular Assist ◽  
Device Implantation ◽  
Left Ventricular Assist

scholarly journals Safe Technique of Removal of Left Atrial Thrombus during Mitral Valve Replacement Surgery

2016 ◽  
Vol 31 (1) ◽  
pp. 26-28
Author(s):  
Rampada Sarker ◽  
Manoz Kumar Sarker ◽  
AM Asif Rahim ◽  
Abdul Khaleque Beg
Keyword(s):  
Mitral Valve ◽  
Valve Replacement ◽  
Mitral Valve Replacement ◽  
Left Atrial ◽  
Left Ventricular ◽  
Left Ventricular Cavity ◽  
Safe Procedure ◽  
Left Atrial Thrombus ◽  
Atrial Thrombus ◽  
Ventricular Cavity

Background: Open mitral operation in patients with massive left atrial thrombus still with high mortality due to intra-operative embolism. To prevent this mortality due to intra-operative embolism and to prevent this danger we practiced a surgical technique which includes careful handling of heart and obliteration of left ventricular cavity by bilateral compression.Method: We used this technique in patients of severe mitral stenosis with atrial thrombus during mitral valve replacement. Our technique was to obliterate the left ventricular cavity and thus keep the mitral cusps in a coapted position by placing gauge posterior to left ventricle and a compression over right ventricle by hand of an assistant with a piece of gauze. This obliteration prevented passage of fragments of left atrial thrombus towards collapsed left ventricle.Result: Before practicing this technique, 4 out 9 patients expired due to cerebral embolism . But after implementation of this technique in 17 patients no mortality or morbidity occurred.Conclusion: This technique of removal of left atrial thrombus during mitral valve replacement may be a safe procedure for preventing peroperative embolism.Bangladesh Heart Journal 2016; 31(1) : 26-28

scholarly journals Semiotics of apical hypertrophic cardiomyopathy in magnetic resonance Imaging

2020 ◽  
Vol 19 (2) ◽  
pp. 18-23
Author(s):  
I. E. Obramenko
Keyword(s):  
Magnetic Resonance Imaging ◽  
Hypertrophic Cardiomyopathy ◽  
Magnetic Resonance ◽  
Left Ventricle ◽  
Heart Diseases ◽  
Fibrous Tissue ◽  
Left Ventricular ◽  
Left Ventricular Cavity ◽  
Resonance Imaging ◽  
Apical Hypertrophic Cardiomyopathy

Introduction. About 0.2 % of the adult population all over the world suffers from hypertrophic cardiomyopathy. Early and timely diagnosis of the apical form of hypertrophic cardiomyopathy remains an urgent medical problem, since the disease has a wide variability of clinical manifestations and often occurs asymptomatic or with symptoms of other heart diseases. Magnetic resonance imaging is an informative method of radiation diagnosis of hypertrophic cardiomyopathy. The aim is improving of radiology diagnostics in applying to the apical form of hypertrophic cardiomyopathy. Materials and methods. 98 patients with apical hypertrophic cardiomyopathy aged 19 to 76 years were еxamined. There were 48 men and 50 women. All subjects were examined by a cardiologist, all patients underwent electrocardiography and echocardiography, 45 patients underwent magnetic resonance imaging (MRI) of the heart. Results. In our study 13 patients had MRI determined the isolated form of apical form of hypertrophic cardiomyopathy, 32 had combined one. 42.2% of the patients with symmetrical hypertrophy of all apical segments had sawtoothed configuration of the LV revealed by MRI. The symptom of left ventricular cavity obliteration was determined in 19 patients. The symptom of LV cavity sequestration was determined in 5 subjects. 5 patients had an aneurysm on the top of the left ventricle, 1 – on the top of the right ventricle. Signs of left ventricular outflow tract obstruction were visualized in 2 patients, intraventricular obstruction at the level of the middle segments of the left ventricle was determined in 5 cases. Akinesis and hypokinesis were detected in areas of fibrous changes (n=21) or in areas of cardiosclerosis (n=2). In 17.8 % of subjects identified non-compacted myocardium, in 3 cases it was combined with apical form of hypertrophic cardiomyopathy. With contrast enhancement in 29 patients, foci (n=22) or zones (n=7) of pathological accumulation of contrast agent were determined, which indicated the replacement of myocardium with fibrous tissue.

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