Natural History of MYH7-Related Dilated Cardiomyopathy

BACKGROUND Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVES We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 +/- 19.2 years) recruited from 29 international centers. RESULTS At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% +/- 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of <= 35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare. (C) 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation

Clinical features and outcomes of elderly hospitalised patients with chronic obstructive pulmonary disease, heart failure or both

Background and objective: Chronic obstructive pulmonary disease (COPD) and heart failure (HF) mutually increase the risk of being present in the same patient, especially if older. Whether or not this coexistence may be associated with a worse prognosis is debated. Therefore, employing data derived from the REPOSI register, we evaluated the clinical features and outcomes in a population of elderly patients admitted to internal medicine wards and having COPD, HF or COPD + HF. Methods: We measured socio-demographic and anthropometric characteristics, severity and prevalence of comorbidities, clinical and laboratory features during hospitalization, mood disorders, functional independence, drug prescriptions and discharge destination. The primary study outcome was the risk of death. Results: We considered 2,343 elderly hospitalized patients (median age 81&nbsp;years), of whom 1,154 (49%) had COPD, 813 (35%) HF, and 376 (16%) COPD + HF. Patients with COPD + HF had different characteristics than those with COPD or HF, such as a higher prevalence of previous hospitalizations, comorbidities (especially chronic kidney disease), higher respiratory rate at admission and number of prescribed drugs. Patients with COPD + HF (hazard ratio HR 1.74, 95% confidence intervals CI 1.16-2.61) and patients with dementia (HR 1.75, 95% CI 1.06-2.90) had a higher risk of death at one year. The Kaplan-Meier curves showed a higher mortality risk in the group of patients with COPD + HF for all causes (p = 0.010), respiratory causes (p = 0.006), cardiovascular causes (p = 0.046) and respiratory plus cardiovascular causes (p = 0.009). Conclusion: In this real-life cohort of hospitalized elderly patients, the coexistence of COPD and HF significantly worsened prognosis at one year. This finding may help to better define the care needs of this population

La gastrulación de Epipedobates anthonyi (Anura: Dendrobatidae)

We describe the external and internal morphology of the gastrula in the dendrobatid frog from Ecuador, Epipedobates anthonyi. Eggs have dark pigment in the animal pole, their diameter reaches 2 mm on average, and the egg clutch contains between 8 to 45 eggs. The time required from the beginning until the completion of gastrulation is of 1.5 days. The gastrula of E. anthonyi is characterized by the formation of a prominent dorsal blastopore lip in the subequatorial region of the embryo. Elongation of the archenteron is retarded until completion of gastrulation, and cells that accumulate in the blastopore lip form a conspicuous circumblastoporal collar at the end of gastrulation. The gastrula of E. anthonyi shares the morphological features observed in another dendrobatid frog, Colostethus (=Epipedobates) machalilla. This study allowed a better understanding of gastrulation in dendrobatid frogs, and provides additional knowledge about the biology of a member of the fauna of EcuadorSe describe la morfología externa e interna de la gástrula de la rana dendrobátida ecuatoriana, Epipedobates anthonyi. Los huevos tienen pigmento oscuro en el polo animal, su diámetro es de 2 mm en promedio y las posturas contienen entre 8 a 45 huevos. El tiempo requerido desde el inicio hasta culminar la gastrulación es de 1,5 días. La gástrula de E. anthonyi se caracterizó por la formación de un labio dorsal prominente en la región subecuatorial del embrión. El alargamiento del arquenterón estuvo retardado hasta después de terminar la gastrulación y las células que se acumularon en los labios del blastoporo formaron un prominente collar circumblastoporal. La gástrula de E. anthonyi comparte las características morfológicas observadas en otra rana dendrobátida, Colostethus (=Epipedobates) machalilla. Este estudio ha permitido una mejor comprensión de la gastrulación en ranas dendrobátidas y provee conocimientos adicionales sobre la biología de un miembro de la fauna ecuatorian

MULTIPLE NUCLEI DURING EARLY OOGENESIS IN FLECTONOTUS PYGMAEUS AND OTHER MARSUPIAL FROGS

Volume: 154Start Page: 198End Page: 21

Desarrollo neural, somitogénesis y morfología interna de los embriones de Hyloxalus vertebralis y Dendrobates auratus (Anura: Dendrobatidae)

The features of neurulation and internal morphology of the embryos and the mode of myogenesis were analyzed and compared from the neurula stage until tadpole hatching in two species of the family Dendrobatidae (Hyloxalus vertebralis and Dendrobates auratus) in comparison with other species of the same family and Xenopus laevis. This analysis was undertaken because the eggs of H. vertebralis and D. auratus are among the largest detected in the family Dendrobatidae (2.6 and 3.5 mm of diameter, respectively). Internal morphology and neurulation in H. vertebralis and D. auratus were similar with the features of X. laevis and other Dendrobatidae. There was retardation in the differentiation of the brain in these species in comparison with X. laevis. The mode of myogenesis of H. vertebralis and D. auratus occurs by cell interdigitation as found in Bombina variegate (Bombinatoridae), four additional species of Dendrobatidae, two species of Leiuperidae, and one species of Hemiphractidae. The comparative analysis allows documentation of the diversity of developmental programs among anurans and represents a contribution to the better knowledge of the Ecuadorian fauna.Se analizaron y compararon las características de la neurulación, morfología interna de los embriones desde la néurula hasta la eclosión del renacuajo y el modo de miogénesis de dos especies de ranas de la familia Dendrobatidae (Hyloxalus vertebralis y Dendrobates auratus) con otras especies de la misma familia y Xenopus laevis. Se realizó este análisis debido a que los huevos de H. vertebralis y D. auratus tienen el tamaño más grande detectado hasta ahora en la familia Dendrobatidae (2.6 y 3.5 mm de diámetro, respectivamente). La morfología interna de los embriones y la neurulación de H. vertebralis y D. auratus fueron similares a lo observado en X. laevis y otros Dendrobatidae. Se observó retraso en la diferenciación del cerebro en estas especies en comparación con X. laevis.  La miogénesis de H. vertebralis y D. auratus ocurre por interdigitación celular como en Bombina variegata (Bombinatoridae), cuatro especies adicionales de Dendrobatidae, dos especies de Leiuperidae y una especie de Hemiphractidae. El estudio comparativo permite documentar la diversidad de programas del desarrollo entre los anuros y contribuir al conocimiento de la fauna ecuatoriana