Strategies to accelerate diagnosis and treatment of rare cardiovascular diseases
The current landscape for patients with rare cardiovascular disease has shifted. Using genome sequencing Yale physician-scientists have begun to elucidate the pathophysiology of genetic disorders and develop treatment guidelines and recommendations.
Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes
Carvajal and erythrokeratodermia cardiomyopathy syndromes (EKC) are rare, inherited cardiocutaneous disorders with potentially fatal consequences in young children. Some patients display features of congestive heart failure and rapidly deteriorate; others exhibit no evident warning signs until sudden death reveals underlying heart disease. We present two patients to illustrate the characteristic hair, skin, teeth, and nail abnormalities, which—especially when distinct from that of other family members—should prompt cardiac evaluation and genetic analysis. In this article, we discuss established treatments as well as a promising, novel therapeutic that has led to nearly complete resolution of the cutaneous and cardiac pathology in EKC syndrome.Source: Wiley Online Library
Trial supports first specific treatment for obstructive hypertrophic cardiomyopathy
Mavacamten improves heart function and symptoms in patients with obstructive hypertrophic cardiomyopathy, according to results of the EXPLORER-HCM trial presented in a Hot Line session today at ESC Congress 2020.Source: Medical Xpress
Don’t Try This At Home: Understanding Appropriate Uses of Potential Coronavirus Treatments
Two existing drugs, hydroxychloroquine and azithromycin, have been floated as having a potential impact against the coronavirus. But health care experts warn these drugs are not something you should use to treat yourself at home.Source: NBC
Anti-COVID-19 Medications, While Possibly Life Saving, Can Have Life Threatening Complications if Used Inappropriately
The heightened awareness around the anti-malaria drug hydroxychloroquine as well as other experimental treatments for COVID-19 has led to reports of risky behaviors, according to Yale School of Medicine physicians.
Yale New Haven Becomes First in Connecticut to Perform Pediatric Heart Transplants
Yale New Haven Children’s Hospital (YNHCH) today announced that it has become the first hospital in Connecticut and Rhode Island to receive certification from the United Network of Organ Sharing (UNOS) to perform pediatric heart transplants.
Yale hospital team saves baby’s life with rare heart surgery
When Ryan William O’Reilly was born at 4:50 a.m. Oct. 19, his parents already knew their family faced a challenge. Ryan had a severely defective heart. But in less than four months, Ryan, whose heart’s left ventricle and aorta are too small to pump blood to the body, has survived more obstacles to survival than most people ever will.Source: New Haven Register