Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions. By muscle Magnetic Resonance Imaging (MRI) we observed that T2-short tau inversion recovery (T2-STIR) sequences identify two different conditions in which each muscle can be found before the irreversible dystrophic alteration, marked as T1-weighted sequence hyperintensity, takes place. We studied these conditions in order to obtain further information on the molecular mechanisms involved in the selective wasting of single muscles or muscle groups in this disease

Ventricular Pseudoaneurysm and Free Wall Rupture After Acute Myocardial Infarction: JACC Focus Seminar 4/5

Postinfarction ventricular free-wall rupture is a rare mechanical complication, accounting for <0.01% to 0.02% of cases. As an often-catastrophic event, death typically ensues within minutes due to sudden massive hemopericardium resulting in cardiac tamponade. Early recognition is pivotal, and may allow for pericardial drainage and open surgical repair as the only emergent life-saving procedure. In cases of contained rupture with pseudo-aneurysm (PSA) formation, hospitalization with subsequent early surgical intervention is warranted. Not uncommonly, PSA may go unrecognized in asymptomatic patients and diagnosed late during subsequent cardiac imaging. In these patients, the unsettling risk of complete rupture demands early surgical repair. Novel developments, in the field of transcatheter-based therapies and multimodality imaging, have enabled percutaneous PSA repair as a feasible alternate strategy for patients at high or prohibitive surgical risk. Contemporary advancements in the diagnosis and treatment of postmyocardial infarction ventricular free-wall rupture and PSA are provided in this review. (c) 2024 the American College of Cardiology Foundation. Published by Elsevier. All rights reserved

Ventricular Septal Rupture After Myocardial Infarction: JACC Focus Seminar 3/5

Ventricular septal rupture remains a dreadful complication of acute myocardial infarction. Although less commonly observed than during the prethrombolytic era, the condition remains complex and is often associated with refractory cardiogenic shock and death. Corrective surgery, although superior to medical treatment, has been associated with high perioperative morbidity and mortality. Transcatheter closure techniques are less invasive to surgery and offer a valuable alternative, particularly in patients with cardiogenic shock. In these patients, percutaneous mechanical circulatory support represents a novel opportunity for immediate stabilization and preserved end-organ function. Multimodality imaging can identify favorable septal anatomy for the most appropriate type of repair. The heart team approach will define optimal timing for surgery vs percutaneous repair. Emerging concepts are proposed for a deferred treatment approach, including orthotropic heart transplantation in ideal candidates. Finally, for futile situations, palliative care experts and a medical ethics team will provide the best options for end-of-life clinical decision making. (J Am Coll Cardiol 2024;83:1886-1901) (c) 2024 the American College of Cardiology Foundation. Published by Elsevier. All rights reserved

The utility of pulmonary function testing in the preoperative risk stratification of patients undergoing transcatheter aortic valve replacement

The role of pulmonary function testing (PFT) as a predictor of clinically relevant endpoints in transcatheter aortic valve replacement (TAVR) is unclear. To determine the utility of PFT in the preoperative risk stratification of patients undergoing TAVR. An evaluation of PFT (i.e., FEV1), arterial blood gases (i.e., PO2), the diagnosis of chronic obstructive lung disease (COPD) by the Global Initiative for COPD (GOLD), and the diagnosis of chronic lung disease (CLD) by the Society of Thoracic Surgeons (STS) was performed to determine whether a relationship exists among these parameters and clinically relevant outcomes, including all-cause 30-day and 1-year mortality. A total of 513 patients underwent TAVR between March 2013 and December 2016. Per STS criteria, 269/513 (52%) had CLD with a mean FEV1 of 55.4 ± 12%. Per GOLD criteria, 158/513 (30%) of patients had COPD with a mean FEV1/forced vital capacity of 61.8 ± 8.2%. The severity of CLD was affected by changes in ejection fraction, albumin, creatinine, and B-type natriuretic peptide levels (p = .009, p < .001, p < .001, and p < .001, respectively), whereas the severity of COPD was not affected by these same variables, (p = .302, .079, .137, and .102, respectively). An increased A-a gradient (p = .035), increased PCO2 (p = .016), and decreased PO2 (p = <.001) demonstrated increased risk of 30-day mortality. Neither classification (COPD or CLD), nor PFT changes, showed association with 30-day and 1-year mortality (p = NS). This study suggests that isolated abnormalities in spirometry are a poor indicator of clinically relevant outcomes in TAVR. When classified correctly, COPD does not predict clinically relevant postoperative outcomes