Background: Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are common heart muscle disorders that are caused by pathogenic variants in sarcomere protein genes. In this study, we describe a variant in the MHY7 gene, segregating in a family having three different phenotypes of cardiomyopathies. MYH7 encodes for the myosin heavy-chain β (MHC-β) isoform involved in cardiac muscle contractility. Method and results: We present the case of a family with four members diagnosed with HCM and four members with DCM. The proband is a 42-year-old man diagnosed with HCM. He has an extended family of eight siblings; two of them are diagnosed with HCM and are implantable cardioverter–defibrillator (ICD) carriers. One of the siblings died at the age of 23 after suffering a sudden cardiac arrest and DCM of unknown etiology which was diagnosed at autopsy. Another brother was diagnosed with DCM during a routine echocardiographic exam. Genetic testing was performed for the proband and two of his siblings and a niece of the proband, who suffered a cardiac arrest at the age of nine, all being MYH7 mutation positive. For all four of them, cardiac imaging was performed with different findings. They are ICD carriers as well. Conclusions: Our results reveal three variants in phenotypes of cardiomyopathies in a family with MYH7 mutation associated with high SCD risk and ICD needed for primary and secondary prevention.

Cardiac conduction involves electrical activity from one myocyte to another, creating coordinated contractions in each. Disruptions in the conducting system, such as left bundle branch block (LBBB), can result in premature activation of specific regions of the heart, leading to heart failure and increased morbidity and mortality. Structural alterations in T-tubules and the sarcoplasmic reticulum can lead to dyssynchrony, a condition that can be treated by cardiac resynchronization therapy (CRT), which stands as a cornerstone in this pathology. The heterogeneity in patient responses underscored the necessity of improving the diagnostic approach. Vectocardiography, ultra-high-frequency ECG, 3D echocardiography, and electrocardiographic imaging seem to offer advanced precision in identifying optimal candidates for CRT in addition to the classic diagnostic methods. The advent of His bundle pacing and left bundle branch pacing further refined the approach in the treatment of dyssynchrony, offering more physiological pacing modalities that promise enhanced outcomes by maintaining or restoring the natural sequence of ventricular activation. HOT-CRT emerges as a pivotal innovation combining the benefits of CRT with the precision of His bundle or left bundle branch area pacing to optimize cardiac function in a subset of patients where traditional CRT might fall short.

Background: Recent studies increasingly highlight the efficacy of tranexamic acid administration in total hip arthroplasty (THA) and total knee arthroplasty (TKA). However, the optimal dosage of tranexamic acid is still controversial. Methods: The current study analyzes the efficiency of tranexamic acid dosage and the number of administrations in THA and TKA. The objective of this study is to compare the incidence of deep vein thrombosis (DVT) based on the number of dosages. We divided the patients into two groups; one group received a single dosage, and the other group received two dosages. Doppler ultrasound examinations were conducted on the lower limbs of all patients at both six and thirty days postoperatively. The second objective is to compare the decrease in hemoglobin (Hb) in the two groups. Results: The results show that there is no difference in DVT incidence between the patients with different TXA numbers of dosages. There is no statistically significant decrease in Hb between the two groups at day one and day five postoperatively. Day one shows a statistically higher average in the two-dose group, approximately 0.06 g/dL, and day five shows a slightly elevated average in the single-dose group, approximately 0.06 g/dL. Blood transfusion requirements show no significant differences in the groups; one patient in the single-dose tranexamic acid group needed transfusion at day five postoperatively, while two patients in each group required immediate postoperative transfusion. Conclusion: There was no increase in the incidence of deep vein thrombosis among patients receiving two dosages of tranexamic acid.