Researchers at San Raffaele Hospital in Milan have discovered a genetic mutation in the LMNA gene linked to sudden cardiac death, offering a breakthrough in early diagnosis and life-saving interventions.

Milan Study Reveals Genetic Mutation Behind Sudden Cardiac Death


A groundbreaking study by researchers at San Raffaele Hospital in Milan has uncovered a previously unknown genetic mutation linked to sudden cardiac death. Published in the Journal of the American College of Cardiology: Heart Failure, the research identifies a mutation in the LMNA gene that causes a dangerous form of cardiomyopathy, leading to malignant arrhythmias and potentially fatal cardiac arrests.

This discovery is not only a leap forward in cardiovascular medicine but has already saved lives through timely diagnosis and proactive interventions such as implantable defibrillators and heart transplants.

The Discovery: From Routine Check-Up to Scientific Breakthrough


The breakthrough began with what seemed like a routine cardiology appointment. Cardiologist and arrhythmologist Dr. Simone Sala examined a patient with minor heart rhythm disturbances but a troubling family history of sudden deaths—some occurring at a young age. Sensing something unusual, Dr. Sala initiated further diagnostic testing.

In collaboration with geneticist Chiara Di Resta, the team discovered a never-before-documented mutation—c.208del—in the LMNA gene. This mutation, the study reveals, is closely associated with a significantly increased risk of malignant arrhythmias and sudden cardiac death.

Genetic Mutation Linked to Sudden Death Uncovered by Milan Scientists
Genetic Mutation Linked to Sudden Death Uncovered by Milan Scientists

Early Intervention Saves Lives


Based on the findings, doctors implanted a defibrillator in the patient. That decision proved crucial: just months later, she suffered a cardiac arrest—but the device saved her life.

Soon after, another resident from Caposele, a small town in Avellino province and the same village as the initial patient, was also diagnosed with the same mutation following a cardiological consultation at San Raffaele.

This triggered a deeper investigation.

Mapping a Genetic Risk: Caposele Under the Microscope


The research team began studying the patient’s family tree, examining 234 individuals from Caposele linked by genealogy. Of these, 30 people were identified as carriers of the same LMNA gene mutation. All showed signs of heart abnormalities—most previously undiagnosed. In a striking discovery, 43% of them also presented neuromuscular symptoms, indicating the mutation’s broader physiological impact.

A Turning Point in Cardiac Genetics


This discovery underscores the critical role of genetic diagnosis in identifying individuals at risk of sudden cardiac death. It demonstrates the life-saving potential of combining cardiology with genetic science.

Thanks to the dedication of clinicians and researchers at San Raffaele, dozens of lives may be extended or even saved, as early diagnosis enables preventative care—turning potential tragedy into triumph.

 Genetic Testing Offers a Lifeline

Preventing Sudden Death Through Science and Vigilance
The identification of the LMNA gene mutation offers a powerful tool for preventing sudden cardiac deaths. As this Milan study shows, combining family history analysis, genetic screening, and advanced cardiac care can uncover hidden threats before they strike. The case of Caposele serves as a model for how precision medicine can transform lives—and protect generations to come.