Heart Failure in the United States
One Gene, Two Different Heart Diseases—new Study Shows Why
gene, show such different symptoms.
The research, led by Professor Stuart Campbell at Yale University, used lab-grown heart tissue to understand the differences between hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM).
The study was published in the Journal of Clinical Investigation.
HCM and DCM are two of the most common inherited heart diseases. They can cause sudden death or heart failure, even in young and healthy people.
HCM causes the walls of the heart's left ventricle to thicken, making it harder for the heart to pump blood.
In contrast, DCM makes the heart walls thinner, which weakens the heart's ability to pump.
Both diseases can be caused by changes (mutations) in the same gene that makes a protein called tropomyosin, which helps control how the heart muscle contracts.
Campbell's team studied two different mutations—just a few amino acids apart in the tropomyosin protein—to see how each one affects the heart.
To do this, they used human-induced pluripotent stem cells (iPSCs)—cells that can turn into any cell type. They edited these cells to carry either the HCM or DCM mutation, then used them to grow small pieces of heart tissue in the lab.
These tissues let the researchers directly observe how the mutations affected heart muscle contraction.
They found that the HCM mutation caused hypercontractility, meaning the heart tissue contracted too much. Meanwhile, the DCM mutation caused hypocontractility—the heart tissue didn't contract strongly enough.
Next, the researchers used computer models to dig deeper and confirm their findings. The models helped explain how each mutation changes the molecular behavior of tropomyosin and how that leads to opposite effects on heart function.
The team then tested two drugs to see if they could fix the problems. For HCM, they used mavacamten, a drug that reduces muscle contraction.
After treating the HCM heart tissue for a few days, the contractions returned to normal levels. For DCM, they used danicamtiv, a drug that strengthens contractions.
Again, after a few days of treatment, the heart tissue's strength improved.
This research may help doctors better understand and treat these conditions in the future.
"Even though the same gene is involved, a small difference in the mutation can send the heart in completely opposite directions," said Campbell. "Our goal was to explain exactly how that happens and to test ways to fix it."
If you care about heart health, please read studies about how eating eggs can help reduce heart disease risk, and Vitamin K2 could help reduce heart disease risk.
For more information about health, please see recent studies that olive oil may help you live longer, and Vitamin C linked to lower risk of heart failure.
Source: Yale University.
Maradona's Full Horror List Of Health Woes Revealed As He Died In 12hr Agony With Double-sized Heart & Engorged Belly
MORBID details of Diego Maradona's health problems have been revealed - including widespread swelling which doubled the size of his "freakishly deformed" heart.
The legendary Argentina star suffered in agony for 12 hours due to brain clots and breathing difficulties, according to his shocking autopsy.
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Diego Maradona's autopsy revealed his heart swelled to double its normal sizeCredit: Getty
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A trial over Maradona's death involved the chief prosecutor showing the court a very graphic image of the footballerCredit: Canal CBA
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Autopsy expert Mauricio Cassinelli said in court that the 1986 World Cup winner had "a heart that weighed more than twice its normal size."
He said Maradona suffered bodily swelling "from head to toe," and had "four and a half litres of water in his body".
Seven medical professionals are currently on trial for culpable homicide, which is similar to involuntary manslaughter, after the player and manager's death in 2020.
He died in a dark room aged 60, lying in agony for half a day before suffering a heart attack.
The tragic star experienced dilated cardiomyopathy, a disease of the heart muscle that causes the heart chambers to enlarge and stretch.
And he suffered from cirrhosis which damaged his liver, as well as myocarditis which occurs when the heart becomes inflamed.
Local paper Clarin revealed the horrific details which emerged during the trial.
Chief prosecutor Patricio Ferrari previously said the footballer died in a "house of horror", and described his care as "reckless and deficient".
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Blues WIN after Enzo Fernandez header and VAR dramaCassinelli said that his torturous suffering would have been easy to spot for a number of days.
The expert said: "The heart was completely covered in fat and blood clots, which indicate agony.
"This is a patient who had been collecting water over the days; that's not acute.
"This was something that was foreseeable.
"Any doctor examining a patient would find this.
At the time of his tragic passing, Maradona was at home recovering from a brain blood clot surgery in November 2020.
He died two weeks later on November 25 in Dique Lujan, Argentina.
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Neurologist Leopoldo Luque, who served as Diego Maradona's doctor, stands in court on the first day of the trialCredit: AP
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The player and manager's life was marred by substance and alcohol issuesCredit: GettyCassinelli added: "It was a dark, partitioned room, with a bed in the middle of the room and a portable toilet.
"It didn't seem like a suitable place for what we later learned was home hospitalisation."
Forensic doc Federico Corasaniti also backed up Cassinelli's claim that the Argentina midfielder suffered a slow and gradual death.
He said: "The difficulty he must have had breathing and exchanging gases, and the sounds in his lungs that are audible just by bringing his face close."
"In my opinion as a doctor, it wasn't a sudden event."
Diego Maradona's legacy
By Harvey Geh
Diego Maradona, born in 1960, was an Argentine footballer widely regarded as one of the greatest players of all time.
He led Argentina to World Cup glory in 1986, famously scoring the "Hand of God" goal and the "Goal of the Century" against England.
Maradona's club career included stints at Barcelona and Napoli, where he became a legend, winning two Serie A titles and the UEFA Cup.
His incredible dribbling, vision, and flair made him a global icon, inspiring generations of footballers, including Lionel Messi.
Off the pitch, Maradona battled drug addiction and health problems, which often overshadowed his footballing brilliance.
He was banned from the 1994 World Cup after testing positive for ephedrine, marking a dramatic fall from grace.
Despite controversies, he remained beloved in Argentina, with Napoli even renaming their stadium in his honour after his 2020 death.
Maradona had a turbulent career in management, coaching Argentina at the 2010 World Cup but failing to replicate his playing success.
Following his tragic death Maradona's legacy endures as a flawed genius whose footballing magic will never be forgotten.
Maradona's family have alleged negligence, a cover-up, and derogatory comments from the medical staff who were in charge of his care.
They called the medical team and cover-up a "mafia".
The player had previously struggled with drug addiction, obesity and alcoholism for decades, and reportedly came close to death in both 2000 and 2004.
But prosecutors now suspect that his death could have been avoided.
Seven of the eight medical professionals who have been charged in the case include Maradona's brain surgeon, psychiatrist and nurses.
They are now standing trial for a charge similar to involuntary manslaughter.
The group deny wrongdoing but could face up to 25 years in prison.
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1986 Football World Cup winner Diego Maradona scores goal with his Hand of God in the Quarter FinalCredit: Getty
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Dalma Maradona (L) and Gianinna Maradona (R), daughters of the late Argentinian football legendCredit: GettyDiego Maradona's eldest daughter Dalma shared a video containing audio clips which she says proves serious irregularities in her father's care.
She also revealed that her mother is in fear of the "mafia" who "control everything".
She has previously said that a "mafia of assassins" caused her dad's death, and that audio recordings prove a lack of medical attention and talks about cover-ups, according to Diario Registrado.
Maradona's cause of death was officially listed as "acute pulmonary edema secondary to exacerbated chronic heart failure".
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A model of the house where the late player died was taken in for the trialCredit: AFP
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Maradona supporters demonstrate outside court as the trial of seven medical professionals accused of negligence in his death beginsCredit: GettyStudy Reveals Distinct Differences Between Two Heart Conditions Linked By Genetic Mutations
Wed 2nd Apr, 2025
Recent research has uncovered that two prevalent and potentially fatal heart diseases, hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), share a genetic origin while displaying markedly different clinical symptoms. This revelation comes from a study conducted by a team of researchers utilizing engineered heart tissues, with findings published in the Journal of Clinical Investigation.
HCM is characterized by an abnormal thickening of the heart's left ventricular wall, whereas DCM involves a thinning of the same wall. The research team, led by Professor Stuart Campbell, focused on understanding the biological mechanisms differentiating these two conditions, both of which are among the leading causes of sudden cardiac death and heart failure in otherwise healthy young individuals.
By comparing mutations in the same gene, the researchers found that even minor differences in the mutations could lead to vastly different outcomes in heart function. The team engineered human-induced pluripotent stem cell (iPSC) lines to represent the two conditions by modifying specific amino acids in the protein tropomyosin, crucial for muscle contraction.
For the DCM model, they altered the 54th amino acid, while for HCM, they modified the 62nd amino acid. This allowed the team to create engineered heart tissues to observe and measure their contractile properties.
Analysis revealed that the mutation linked to HCM resulted in hypercontractility, where the heart tissue contracted excessively. In contrast, the mutation associated with DCM led to hypocontractility, indicating inadequate contraction strength. The researchers employed computational models to substantiate their findings, confirming that the differences in mutations led to these distinct phenotypes.
The study also explored potential therapeutic interventions for these conditions. The researchers administered mavacamten, a drug designed to reduce muscular activity, to samples of heart tissue affected by HCM, which successfully normalized contraction levels. Conversely, they treated DCM-affected tissues with danicamtiv, a drug that enhances contractile force, resulting in a restoration of normal tissue strength.
The implications of this study are significant, as they pave the way for improved treatment strategies tailored to the specific mechanisms driving these genetic heart diseases. The researchers emphasized the importance of their findings in elucidating how variations in gene mutations can lead to diverse cardiac afflictions.
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