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Testing for LMNA Mutations Called ‘Woefully Underutilized'
Testing for LMNA Mutations Called ‘Woefully Underutilized'

Medscape

time15-07-2025

  • Health
  • Medscape

Testing for LMNA Mutations Called ‘Woefully Underutilized'

People with mutated copies of the LMNA gene are at high risk for cardiac laminopathies, including atrioventricular block and atrial or ventricular arrhythmias (VAs) leading to dilated cardiomyopathy. These autosomal dominant mutations have a high penetrance, meaning that a high percentage of persons with a pathogenic or likely pathogenic variant will develop health problems related to the gene. For those with cardiac manifestations, about 90% of carriers of LMNA mutations older than 30 years have a high risk for sudden death from arrhythmia — even patients with minimal left ventricular dilation and mild systolic impairment — well before the onset of heart failure. A long-term follow-up study from 122 consecutive carriers of LMNA mutations with cardiac conditions showed that most had experienced arrhythmia, heart block, embolic events, or heart failure within 7 years of diagnosis. Could some outcomes, such as sudden cardiac death, be averted with a more precise view of LMNA mutations? New research published in JAMA Cardiology shows pinpointing the type and location of the LMNA mutation may guide clinicians toward earlier treatment approaches to improve prognosis for these high-risk patients. These interventions might include earlier placement of implantable cardioverter-defibrillator (ICD) devices and family testing to detect the mutation before the onset of symptoms. 'Genetic testing for dilated cardiomyopathy is woefully underutilized,' said the paper's senior author, Neal Lakdawala, MD, an associate professor of medicine at Harvard Medical School and a cardiologist in the Heart and Vascular Center at Brigham and Women's Hospital, in Boston. In fact, claims data showed that fewer than 2% of patients with dilated cardiomyopathy undergo genetic testing. 'Prior research has established the prognostic power of a genetic diagnosis,' Lakdawala told Medscape Medical News . 'We took it one step further within a specific genetic etiology, to show that the type of gene variant and the location of a gene variant also matter.' The retrospective cohort study examined international registry data from 718 patients (mean age, 41.3 ± 14.3 years) with pathogenic or likely pathogenic variants of LMNA . The participants in the study had no prior history of malignant VA. The primary outcome was time to malignant VA, defined as sudden cardiac death, placement of an ICD, or other manifestations of hemodynamically unstable VA. The secondary outcome, advanced heart failure, was defined as nonsudden cardiac death, implantation of a left ventricular assist device, or heart transplant. Reflecting the high risk associated with LMNA mutations, Lakdawala said, nearly one third of the study participants experienced sudden cardiac death, hemodynamically unstable VA, or an ICD procedure during the 4.2-year follow-up period. In addition, 15% developed advanced heart failure, defined as the implantation of a left ventricular assist device, heart transplant, or nonsudden cardiac death. These outcomes occurred despite many patients having a baseline left ventricular ejection fraction (EF) in the normal range (mean EF was 56%, well above guideline-recommended thresholds of 35%-45% for ICD placement, the researchers reported). Looking deeper into the genes, Lakdawala and his colleagues found participants who had truncating LMNA variants — an abbreviated version of the protein — had worse arrhythmic outcomes, regardless of the position of this genetic mutation on the DNA sequence. On the other hand, those who exhibited missense variants of the LMNA gene — an altered amino acid on the DNA sequence — had a lower risk for harmful arrhythmias and better overall outcomes. Taken together, the location and nature of the gene variants could lead to specific predictions of cardiac risk, according to the researchers. A man with an EF of 50% and a truncating LMNA gene variant, for example, would have a 12% risk for VA within 5 years, but a 7.2% risk if a missense variant were present. For a woman with EF 50%, this risk would be 7.5% for a truncating variant vs 4.5% for a missense variant, if no other risk factors were present. Why Genetic Testing Is Key In an editorial accompanying the journal article, Sharlene M. Day, MD, a cardiomyopathy specialist and presidential professor at the Perelman School of Medicine at the University of Pennsylvania, in Philadelphia, wrote 'the data from this study can also inform risk stratification even in healthy populations with incidental or secondary findings.' Integrating genetic findings into cardiomyopathy management should be 'a priority for all practicing cardiologists,' she wrote. 'The knowledge gap appears to be narrowing with respect to the importance of genetic testing in patients with cardiomyopathies,' Day told Medscape Medical News . 'But there's still opportunity to improve recommendations and referrals by cardiologists for genetic counseling and testing.' Testing typically consists of a broad panel identifying multiple gene variants, including LMNA , she said. If a gene variant is found in an individual patient, cascade testing of family members for that variant is often recommended. 'The current research study nicely highlights the impact of identifying not only the specific gene involved but the type of variation within that gene in terms of risk stratifying patients for adverse outcomes,' she said. Impact on Future Cardiology Guidelines Future clinical practice guidelines should emphasize the value of a genetic diagnosis for risk stratification in patients with dilated cardiomyopathy, especially for predicting sudden death and heart failure, Lakdawala said. The most recent guidelines on heart failure from the American College of Cardiology and the American Heart Association list a class 2A recommendation for placement of an ICD in patients with high-risk genes for dilated cardiomyopathy and an EF of 45% or lower, adding that primary preventive ICD may be considered for those with higher EF. The 2023 European Cardiomyopathy Guideline recommends placement of ICDs in patients with LMNA variants and an EF above 35% (class 2A if risk factors are present and class 2B if no risk factors are present). 'For updated guidelines, I think the most immediate impact would be to refine the LMNA risk score for ventricular arrhythmias to include the type and location of the LMNA variant,' Day told Medscape Medical News . 'Genetic testing has clinical ramifications that will help cardiologists take better care of their patients,' Lakdawala added. 'The take-home message is that they should order these tests!' Lakdawala reported receiving personal fees from Alexion, Bayer, Bristol Myers Squibb, Cytokinetics, Lexeo Therapeutics, Nuevocor, Pfizer, and Tenaya Therapeutics and grants from Bristol Myers Squibb and Pfizer. Day reported serving as chair of the steering committee for Lexicon Pharmaceuticals, on the data monitoring committee for Cytokinetics, and receiving grants from Bristol Myers Squibb.

Palpitations: A 12-Lead EKG Doesn't Tell the Full Story
Palpitations: A 12-Lead EKG Doesn't Tell the Full Story

Medscape

time07-07-2025

  • Health
  • Medscape

Palpitations: A 12-Lead EKG Doesn't Tell the Full Story

This transcript has been edited for clarity. Palpitations are one of the most common complaints when seen in the clinic, but a normal 12-lead EKG does not tell the full story. It captures just a few seconds. Your patient might still be having intermittent arrhythmias, like atrial fibrillation, premature ventricular contractions, or short runs of ventricular tachycardia, that simply do not show up during the visit. What do we do? We start with a detailed history. Ask about when it happens, how long it lasts, what brings it on, and whether it comes with dizziness, chest pain, or near syncope. The pattern matters: regular vs irregular, brief or sustained, activity related or at rest. Then we monitor. A 24- to 48-hHolter is fine if symptoms are frequent. If they're rarer, think longer-term options like a 14-day patch monitor or even an event recorder. For concerning symptoms, an implantable loop recorder is still on the table. Next, we stratify risk. If symptoms happen with exertion or there is a history of heart disease,you want to refer to cardiology. Those patients need imaging and further workup. The bottom line is that a normal EKG does not rule out a real rhythm problem. If something feels off, trust your gut and dig deeper.

OMRON Healthcare Issues Urgent Health Message on AFib, Heart Failure Risks in Response to New Research
OMRON Healthcare Issues Urgent Health Message on AFib, Heart Failure Risks in Response to New Research

Yahoo

time04-07-2025

  • Health
  • Yahoo

OMRON Healthcare Issues Urgent Health Message on AFib, Heart Failure Risks in Response to New Research

"Progress made in reducing heart attack deaths provides a roadmap to address rising mortality rates from arrythmias, heart failure and hypertensive heart disease" HOFFMAN ESTATES, Ill., July 3, 2025 /PRNewswire/ -- Heart health leader OMRON Healthcare today issued an urgent health message across the U.S. to raise public awareness of rapidly increasing risks and rising mortality rates associated with arrythmias such as atrial fibrillation (AFib), heart failure, and heart disease from long-term high blood pressure, as identified in new research. Published in the Journal of the American Heart Association1, new research focused on age-adjusted mortality rates for a variety of heart disease subtypes among adults 25 years and older in an analysis of Centers of Disease Control and Prevention (CDC) data from 1970 to 2022. The analysis found heart disease accounted for nearly one-third of all deaths over the 52-year period2. During that period, heart attack deaths decreased while deaths from arrhythmias, heart failure, and hypertensive heart disease increased significantly. "In this study, researchers noted that public awareness, early diagnosis, and treatment interventions played key roles in reducing the heart attack death rate", said OMRON Healthcare North America Managing Director Alice Koehler. "That affirms the body of research showing 90 percent of heart disease is preventable3. We must remain diligent in preventing heart attacks and commit to early detection and proper treatment of AFib and heart failure." OMRON is providing the following guidance to reduce rising heart disease risks: Monitor your blood pressure regularly at home. Blood pressure fluctuates over time. Regular blood pressure monitoring at home, daily or weekly, can help with early identification of high blood pressure. Utilize new medical technology for early AFib detection. Early detection of AFib is now widely available for the first time for use at home. OMRON recently introduced blood pressure monitors with AI-powered AFib detection, a medical device first. Tap into a virtual heart health coaching app. Mobile apps, such as OMRON connect, can sync to blood pressure monitors and help flag changes in data, provide reminders, support behavior change, and can be used to send readings to your physician. Talk to your doctor. Ask questions about arrythmias, heart failure, and hypertensive heart disease, especially if these conditions run in your family. Inquire about technology that can be used at home to provide a complete picture of your heart health. According to senior author of the research paper Latha Palaniappan, M.D., M.S., FAHA, associate dean for research and a professor of medicine at Stanford University School of Medicine4: "While heart attack deaths are down by 90 percent since 1970, heart disease hasn't gone away. Now that people are surviving heart attacks, we are seeing a rise in other forms of heart disease like heart failure. The focus now must be on helping people age with strong, healthy hearts by preventing events, and prevention can start as early as childhood." As presented in the research paper: In 1970, more than half of all people who died from heart disease (54 percent) died because of a heart attack. The age-adjusted death rate decreased 89 percent by 2022, when less than one-third of all heart disease deaths were caused by a heart attack. Conversely, during this time, the age-adjusted death rate from all other types of heart disease (including heart failure, hypertensive heart disease and arrhythmia) increased by 81 percent, accounting for 47 percent of all heart disease deaths in 2022. "Over this same 52-year period, OMRON Healthcare began offering blood pressure monitors for home use, sold more than 350 million units, and became the number one doctor and pharmacist recommended blood pressure monitor," said Koehler. "Regular blood pressure monitoring and acting on that data can make a world of difference." "Our mission is Going for Zero heart attacks and strokes, and our mission calls us to address the most urgent heart health risks," added Koehler. "The measurable progress made in reducing heart attack deaths provides a roadmap to address rising mortality rates from arrythmias, heart failure and hypertensive heart disease." For more information on blood pressure monitoring and AFib detection, visit About OMRON Healthcare, Healthcare, Inc., is the world's leading manufacturer and distributor of personal heart health products and an innovator in technologies supporting respiratory and pain management care. With over 50 years of medical device category leadership, OMRON is passionate about empowering people to take charge of their health at home through precise technology. Its market-leading products include a full range of home blood pressure monitors, nebulizers and TENS devices. The company's mission is Going for Zero, the elimination of heart attacks and strokes. With more than 350 million devices sold globally, OMRON provides the world's most recommended blood pressure monitors by healthcare professionals. OMRON Healthcare strives to improve lives and contribute to a better society by developing innovations that help people prevent, treat, and manage their medical conditions. The company provides products and services in over 130 countries. For more information, visit 1 JAHA: Heart Disease Mortality in the U.S. 2 AHA statement on JAHA study 3 Cleveland Clinic: Heart Disease is Preventable 4 AHA Newsroom View original content to download multimedia: SOURCE OMRON Healthcare Error while retrieving data Sign in to access your portfolio Error while retrieving data Error while retrieving data Error while retrieving data Error while retrieving data

The Irish Times Business People of the Month: Fionn Lahart and Christoph Hennersperger, Luma Vision
The Irish Times Business People of the Month: Fionn Lahart and Christoph Hennersperger, Luma Vision

Irish Times

time16-05-2025

  • Business
  • Irish Times

The Irish Times Business People of the Month: Fionn Lahart and Christoph Hennersperger, Luma Vision

Fionn Lahart and Christoph Hennersperger, co-founders of Luma Vision , have been chosen as The Irish Times Business People of the Month for April, an award run in association with Bank of Ireland . In April, the Irish medical technology company announced that it had secured US regulatory clearance for its cardiac imaging device for use in the treatment of patients suffering from arrhythmias. Luma Vision's technology is designed to provide better, more detailed images of the heart for doctors treating cardiac irregularities such as atrial fibrillation. The company has developed a catheter-mounted sensor system that can take 360-degree, high-resolution images of the human heart. The device represents a significant advancement on currently available technologies. READ MORE The Food and Drug Administration (FDA), which regulates medicines and medical devices in the US, has cleared Luma Vision's Verafeye Visualisation Platform for use there. 'There's a lot of activity in the cardiology market and, thankfully, our technology can fit in with the procedures of today and the procedures of the future. So it's a big milestone for us as we look towards US commercialisation,' Lahart said following the announcement. The company is already developing its next product, which it will submit to the FDA for approval later in the year. Lahart and Hennersperger, who won the emerging category in the 2022 EY Entrepreneur of the Year awards, met in 2015 while participating in the University of Galway's medical technology accelerator programme, BioInnovate. They incorporated the business two years later. Luma Vision employs almost 70 people in Clonskeagh, south Dublin, and has raised about $50 million (€44 million) in funding to date.

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