Category Archives: Cardiomyopathies

Although it does not receive the same level of fanfare as other classes of pharmacotherapies in the cardiometabolic health space, the development of the cardiac myosin inhibitor class represents a significant advancement in the management of hypertrophic cardiomyopathy and, potentially, cardiovascular medicine as a whole in recent years. In April 2022, the FDA made history with the approval of mavacamten (Camzyos) for treatment of adults with symptomatic New York Heart Association class II-III obstructive HCM to improve functional capacity and symptoms based on data from the phase 3 EXPLORER-HCM trial Continue reading →

"My work for many years has been to understand genetic basis for heart muscle diseases, in particular cardiomyopathy," Seidman said. Continue reading →

A Garvan Institute of Medical Research- and University of New South Wales Sydney-led team reporting in Genome Medicine explores genomic contributions to inherited cardiac disease diagnoses and management at a multidisciplinary clinic at Sydney's Royal Prince Alfred Hospital that specializes in dealing with inherited cardiomyopathies and other heart conditions. Across almost 1,700 cases considered consecutively from 2002 to 2020, the researchers focused on 888 individuals who met the study's inclusion criteria, including the availability of genetic testing and clinical profiles. Of those cases, genetic testing uncovered pathogenic or likely pathogenic variants in 37 percent of cases and variants of uncertain significance (VUS) in another 8 percent, they report, with genetic results impacting diagnoses or care for 51 individuals. Continue reading →

This spring, discussions on how to build a workforce that better meets the needs of the heart failure population will begin in earnest. The alarming number of unfilled fellowship spots for advanced heart failure and transplant cardiology (AHFTC) each year shows that the field is not enticing new trainees, despite the growing clinical need and advances in therapeutics. As recently as the 2023-2024 cycle, just 71 of the 127 AHFTC positions were filled, according to data from the National Resident Matching Program Continue reading →

The surgical technique used in almost all cases is what is known as orthotopic, indicating that the transplanted organ is placed in the same position as the native one. Today, cardiac transplantation is the decisive therapy for a number of extremely serious heart diseases in which alternative pharmacological and non-pharmacological therapies are no longer able to ensure adequate survival and/or quality of life. The heart diseases that lead to cardiac transplantation in the most severe cases are ischaemic heart disease, in patients with very extensive or multiple infarcts, cardiomyopathies (primary diseases of the heart muscle, with no known identifiable cause), some heart valve diseases and some congenital heart diseases. Continue reading →

SOUTH SAN FRANCISCO, Calif., Nov. Continue reading →

BOSTON, Nov. Continue reading →

LAS VEGAS, Aug. Continue reading →

A bag containing COVID-19 vaccines rests on a table during the last day of vaccinations at the drive-thru Fair Park site on Saturday, July 17, 2021, in Dallas. When health officials announced in early July that 80% of Dallas County residents were immune to the coronavirus, it was cause for celebration. Cautious celebration. Continue reading →

Background Frasier syndrome is a rare genetic nephropathy caused by a point mutation in the WT 1 gene located on chromosome 11.14 First described in 1964 by Professor Frasier,5 it is characterized by the presence of progressive glomerulopathy with proteinuria associated with male pseudo hermaphroditism (presence of female external genitalia in a male phenotype).2,3,68 Initial manifestations of patients with Frasier syndrome include morning edema (facial puffiness), elevated blood pressure, proteinuria, with hypospadias and/or ambiguity of the external genitalia accompanied by cryptorchidism at birth.2,3,9 The symptomatology evolves into a treatment-resistant nephrotic syndrome that progressively leads to end-stage renal failure during the first two decades of the childs life.2,3,6,911 We present a case of Frasier syndrome that was seen at the nephrology/dialysis unit of HUEH. This is a young phenotypically male (presence of secondary male characteristics) who is 19 years old and born with a genital malformation in a family without history of consanguinity. They were seen on referral at the nephrology/dialysis unit of the internal medicine department of HUEH for evaluation and follow-up. Continue reading →