- Assessment of cerebral microbleeds by susceptibility-weighted imaging at 3T in patients with end-stage organ failure. [Journal Article]
- RMRadiol Med 2018 Feb 17
- CONCLUSIONS: CMBs are mostly founded in supratentorial lobar localization in end-stage organ failure. The improved detection of CMBs with SWI sequences may contribute to a more accurate identification of patients with cerebral risk factors to prevent complications during or after the organ transplantation.
- Survival and prognostic factors in cats with restrictive cardiomyopathy: a review of 90 cases. [Journal Article]
- JFJ Feline Med Surg 2018 Feb 01; :1098612X18755955
- Objectives Large studies focusing on restrictive cardiomyopathy (RCM) in the cat are scarce. The aims of this retrospective study were to describe epidemiological characteristics and to analyse progn...
Objectives Large studies focusing on restrictive cardiomyopathy (RCM) in the cat are scarce. The aims of this retrospective study were to describe epidemiological characteristics and to analyse prognostic factors affecting survival in cats with RCM. Methods The clinical archives of the Gran Sasso Veterinary Clinic (Milan, Italy) and of the cardiology unit of the Department of Veterinary Medicine (University of Milan, Italy) from 1997-2015 were reviewed for all cats diagnosed with RCM based on an echocardiographic examination (left atrial/bi-atrial enlargement, normal left ventricle wall thickness, normal or mildly decreased systolic function and restrictive left ventricle filling pattern with pulsed Doppler echocardiography). Results The study population comprised 90 cats (53 male, 37 female) with an echocardiographic diagnosis of RCM. Most were domestic shorthairs (n = 60) with a mean ± SD age of 10.0 ± 4.3 years and a median weight of 3.8 kg (interquartile range 3.2-5 kg). Most cats were symptomatic (n = 87). The most common clinical sign was respiratory distress (n = 75). Follow-up was available for 60 cats and the median survival time (MST) was 69 days (95% confidence interval [CI] 0-175 days). Cardiac-related death occurred in 50 cats. In the multivariate Cox analysis only respiratory distress showed a statistically significant effect on survival. The cats without respiratory distress showed a MST of 466 days (95% CI 0-1208); cats with respiratory distress showing a MST of 64 days (95% CI 8-120; P = 0.011). Conclusions and relevance RCM can be considered an end-stage condition associated with a poor prognosis, with few cats not showing clinical signs and surviving >1 year: most cats died of cardiac disease within a very short time.
- Cardiomyopathy: An Overview. [Journal Article]
- AFAm Fam Physician 2017 Nov 15; 96(10):640-646
- The definition and classification of cardiomyopathy have evolved considerably in recent years. Cardiomyopathy can be separated into primary (genetic, mixed, or acquired) and secondary categories, whi...
The definition and classification of cardiomyopathy have evolved considerably in recent years. Cardiomyopathy can be separated into primary (genetic, mixed, or acquired) and secondary categories, which result in varied phenotypes including dilated, hypertrophic, and restrictive patterns. Hypertrophic cardiomyopathy is the most common primary cardiomyopathy and can cause exertional dyspnea, presyncope, atypical chest pain, heart failure, and sudden cardiac death. Dilated cardiomyopathy can be genetic or acquired and typically presents with classic symptoms of heart failure with reduced ejection fraction. Restrictive cardiomyopathy is much less common and often associated with systemic disease. Family physicians should be alert for acquired variants of cardiomyopathy, including peripartum and stress-induced cardiomyopathy, as well as rare variants, such as arrhythmogenic right ventricular dysplasia and left ventricular noncompaction. In addition to history and physical examination, diagnosis of cardiomyopathy includes electrocardiography and echocardiography testing. Treatment may include appropriately staged therapy for heart failure, appropriate activity restriction, evaluation for implantable cardioverter-defibrillator placement, and consideration of heart transplantation in refractory cases. Genetic testing of families is an emerging modality with some potential to augment traditional screening performed by family physicians.
- Beneficial effects of restrictive annuloplasty on subvalvular geometry in patients with functional mitral regurgitation and advanced cardiomyopathy. [Journal Article]
- JTJ Thorac Cardiovasc Surg 2017 Dec 18
- CONCLUSIONS: The RMA procedure partially relieved leaflet tethering, evidenced by decreased tethering distances and IPMD; the latter was the main determinant of MR. These beneficial effects might be mainly attributed to post-RMA reverse LV remodeling, potentially offsetting the negative effect of augmented posterior leaflet angle in selected patients.
- The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies. [Journal Article]
- EHEur Heart J 2018 Jan 24
- CONCLUSIONS: By providing contemporary observational data on characteristics and management of patients with cardiomyopathies, the registry provides a platform for the evaluation of guideline implementation. Potential gaps with existing recommendations are discussed as well as some suggestions for improvement of health care provision in Europe.
- Anesthetic Management for Multiple Family Members with Myotonic Dystrophy for Interventional Cardiac Procedures-A Case Series. [Journal Article]
- FMFront Med (Lausanne) 2017; 4:243
- Myotonic muscular dystrophy (MMD) is a rare autosomal dominant disorder that can complicate anesthetic management of patients. MMD is characterized by progressively worsening muscle loss and weakness...
Myotonic muscular dystrophy (MMD) is a rare autosomal dominant disorder that can complicate anesthetic management of patients. MMD is characterized by progressively worsening muscle loss and weakness, cardiac conduction abnormalities, cardiomyopathy, restrictive lung disease, obstructive sleep apnea, and delayed gastric emptying. Patients presenting with MMD for any surgical procedure present a management challenge to the anesthesiologist. Several reports of airway loss due to medication-mediated respiratory depression, sudden death due to dysrhythmias, aspiration of stomach contents, and prolonged intubation have been reported. We present a case series of three family members with MMD type 1 who presented for electrophysiologic assessment of the cardiac conduction system and possible pacemaker insertion. While there are reports of anesthetic management of patients with myotonic dystrophy for various procedures, our report is unique in that we were able to demonstrate variations of anesthetic management based on the procedure and variation in disease phenotype-differing severity between family members.
- Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings. [Journal Article]
- PGPLoS Genet 2018; 14(1):e1007138
- Congenital or neonatal cardiomyopathies are commonly associated with a poor prognosis and have multiple etiologies. In two siblings, a male and female, we identified an undescribed type of lethal con...
Congenital or neonatal cardiomyopathies are commonly associated with a poor prognosis and have multiple etiologies. In two siblings, a male and female, we identified an undescribed type of lethal congenital restrictive cardiomyopathy affecting the right ventricle. We hypothesized a novel autosomal recessive condition. To identify the cause, we performed genetic, in vitro and in vivo studies. Genome-wide SNP typing and parametric linkage analysis was done in a recessive model to identify candidate regions. Exome sequencing analysis was done in unaffected and affected siblings. In the linkage regions, we selected candidate genes that harbor two rare variants with predicted functional effects in the patients and for which the unaffected sibling is either heterozygous or homozygous reference. We identified two compound heterozygous variants in KIF20A; a maternal missense variant (c.544C>T: p.R182W) and a paternal frameshift mutation (c.1905delT: p.S635Tfs*15). Functional studies confirmed that the R182W mutation creates an ATPase defective form of KIF20A which is not able to support efficient transport of Aurora B as part of the chromosomal passenger complex. Due to this, Aurora B remains trapped on chromatin in dividing cells and fails to translocate to the spindle midzone during cytokinesis. Translational blocking of KIF20A in a zebrafish model resulted in a cardiomyopathy phenotype. We identified a novel autosomal recessive congenital restrictive cardiomyopathy, caused by a near complete loss-of-function of KIF20A. This finding further illustrates the relationship of cytokinesis and congenital cardiomyopathy.
- Transvenous dual-chamber pacemaker after paediatric heart transplantation using left ventricle pacing through the coronary sinus. [Case Reports]
- EHESC Heart Fail 2018; 5(1):204-207
- A 12-year-old child with end-stage heart failure due to restrictive cardiomyopathy was submitted to orthotopic heart transplantation. Primary graft dysfunction required venous arterial extra-corporea...
A 12-year-old child with end-stage heart failure due to restrictive cardiomyopathy was submitted to orthotopic heart transplantation. Primary graft dysfunction required venous arterial extra-corporeal membrane oxygenation. Heart function normalized, but complete atrioventricular block remained after 3 weeks. A dual-chamber pacing with transvenous left ventricle pacing through the coronary sinus was performed. At 5-year follow-up, the patient is stable with the same pacing system and with preserved ventricular function.
- Hydroxychloroquine-induced restrictive cardiomyopathy: a case report. [Journal Article]
- PMPostgrad Med J 2018; 94(1109):185-186
New Search Next
- Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3. [Journal Article]
- MGMol Genet Metab 2018 Jan 06
- Myofibrillary myopathies (MFM) are hereditary myopathies histologically characterized by degeneration of myofibrils and aggregation of proteins in striated muscle. Cardiomyopathy is common in MFM but...
Myofibrillary myopathies (MFM) are hereditary myopathies histologically characterized by degeneration of myofibrils and aggregation of proteins in striated muscle. Cardiomyopathy is common in MFM but the pathophysiological mechanisms are not well understood. The BAG3-Pro209Leu mutation is associated with early onset MFM and severe restrictive cardiomyopathy (RCM), often necessitating heart transplantation during childhood. We report on a young male patient with a BAG3-Pro209Leu mutation who underwent heart transplantation at eight years of age. Detailed morphological analyses of the explanted heart tissue showed intracytoplasmic inclusions, aggregation of BAG3 and desmin, disintegration of myofibers and Z-disk alterations. The presence of undegraded autophagosomes, seen by electron microscopy, as well as increased levels of p62, LC3-I and WIPI1, detected by immunohistochemistry and western blot analyses, indicated a dysregulation of autophagy. Parkin and PINK1, proteins involved in mitophagy, were slightly increased whereas mitochondrial OXPHOS activities were not altered. These findings indicate that altered autophagy plays a role in the pathogenesis and rapid progression of RCM in MFM caused by the BAG3-Pro209Leu mutation, which could have implications for future therapeutic strategies.