Advancing precision medicine for inherited cardiac disorders through innovative research and clinical trials.
Dr. El Hachmi's research focuses on understanding the genetic basis of cardiac disorders and developing targeted therapies that can improve patient outcomes. His work bridges fundamental molecular research with clinical applications, always with the goal of advancing precision medicine approaches for patients with inherited heart conditions.
Dr El Hachmi is collaborating with Professor Albert Hagège on the French Genetic Registry for Hypertrophic Cardiomyopathy (GEREMY), which has enrolled over 1,200 patients with genetically confirmed hypertrophic cardiomyopathy (HCM). The registry facilitates genotype-phenotype correlation studies and has played a key role in identifying new genetic factors that influence disease expression.
Recent findings from the GEREMY registry have demonstrated that specific variants in the MYH7 and MYBPC3 genes are associated with differential responses to selective myosin inhibitors, enabling more targeted therapeutic approaches.
Hypertrophic cardiomyopathy (HCM) is a condition where the heart muscle becomes abnormally thick, making it harder for the heart to pump blood. This can lead to symptoms like shortness of breath, chest pain, or even life-threatening heart rhythms in some cases.
Our research aims to understand why some people with the same genetic mutation develop severe symptoms while others remain relatively healthy. We're also studying how specific genetic profiles might help us determine which medications will work best for each individual patient.
If you have HCM or have a family history of the condition, genetic testing may provide valuable information about your specific type of HCM and help guide treatment decisions.
Dr El Hachmi collaborated with Professor Xavier Jeunemaitre on the ARCADE trial, which was the first randomised controlled study to evaluate the efficacy of irbesartan and celiprolol combination therapy in patients with genetically confirmed vascular Ehlers-Danlos syndrome (vEDS).
The trial demonstrated a remarkable reduction of over 50% in major vascular events among patients who received treatment, which has had a significant impact on the therapeutic approach to this rare but severe condition. The research focused on the mechanistic effects of these medications on TGF-β signalling and collagen stabilisation in vEDS patients.
Vascular Ehlers-Danlos Syndrome (vEDS) is a rare genetic condition that affects the body's connective tissues, particularly the walls of blood vessels. People with vEDS have fragile blood vessels that can rupture unexpectedly, which can be life-threatening.
Our ARCADE trial has been testing a combination of two medications (irbesartan and celiprolol) that work together to strengthen blood vessel walls. The results have been very promising, showing that this treatment can significantly reduce the risk of serious vascular events.
If you or a family member has vEDS, genetic testing can confirm the diagnosis, and you may be eligible for this specialized treatment approach. Early intervention is key to preventing complications.
Dr. El Hachmi's research on dilated cardiomyopathy (DCM) focuses on the genetic and phenotypic determinants of disease progression, with specific expertise in risk stratification for cardiac complications such as arrhythmias, sudden cardiac death, and heart failure. He also collaborates closely with Prof. Karim Wahbi on the clinical and genetic characterization of laminopathies, a subgroup of inherited cardiomyopathies caused by LMNA mutations, which carry a high risk of arrhythmic events. Together, they work on refining clinical decision tools for early detection of high-risk individuals and optimizing management strategies, particularly in relation to device therapy (ICD/CRT). Dr. El Hachmi is also actively involved in specialized genetic counseling for patients and families affected by inherited forms of DCM, including cases with overlapping neuromuscular disorders. His clinical work integrates cardiogenetics and neuromuscular medicine, providing comprehensive care for conditions such as Duchenne (DMD), Becker (BMD), and laminopathies (LMNA). He contributes to national and international registries of neuromuscular diseases, with a focus on defining genotype–phenotype correlations and identifying predictors of cardiac complications in these populations.
Development of personalized risk prediction tools in DCM based on genotype, imaging (CMR), and biomarkers.
Dilated cardiomyopathy (DCM) is a condition in which the heart becomes enlarged and weakened, often due to a genetic mutation. Some inherited forms of DCM are linked to neuromuscular diseases like Duchenne and Becker muscular dystrophies, or to laminopathies, caused by LMNA mutations. Our research focuses on early identification of patients at high risk for complications—such as heart failure or arrhythmias—so that preventive treatments can be introduced as early as possible. Genetic counseling and testing also help family members understand their own risks and plan appropriate follow-up.
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Early diagnosis is crucial, as there are now treatments available that can slow the progression of the disease if started before significant heart damage occurs.
Dr. El Hachmi is an expert in the diagnosis, risk stratification and management of this complex disease. He takes a multidisciplinary approach, integrating clinical assessment with advanced imaging and cardiovascular genetics. He works alongside an international team of cardiogeneticists, imaging specialists and arrhythmologists to provide comprehensive, personalised care for patients and their families.
As part of his commitment to improving patient outcomes, Dr. El Hachmi participates in multidisciplinary clinical networks and leads initiatives aimed at implementing personalized care pathways for families with inherited cardiac conditions.
Arrhythmogenic cardiomyopathy (ACM) is a rare disease of the heart muscle. It is characterised by the progressive replacement of heart cells by fatty scar tissue. This change can disrupt the normal rhythm of the heart and, in some cases, lead to heart failure or sudden cardiac arrest. The signs of the disease vary greatly from one person to another. Some people experience no symptoms at all, while others may experience palpitations, loss of consciousness (syncope) or malaise. Diagnosis is based on a number of tests: electrocardiogram (ECG), cardiac MRI, ultrasound and sometimes genetic analysis. Family background and medical history also play an important role. Once the diagnosis has been made, specialised medical monitoring is essential. This enables treatment to be adapted, the risk of complications to be limited, and personalised advice to be given, particularly on physical activity and lifestyle.
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Dr. El Hachmi and his team are recognized experts in the field of Polygenic Risk Scores (PRS), with a particular focus on integrating PRS into personalized cardiovascular prevention. His work centers on the use of PRS to improve risk prediction in complex conditions such as atrial fibrillation (AF), coronary artery disease (CAD), and hypercholesterolemia.
Polygenic Risk Scores are genetic risk estimates calculated by summing the effects of thousands of common DNA variants (SNVs) associated with a disease, as identified in Genome-Wide Association Studies (GWAS). Unlike rare single-gene mutations, PRS take into account the cumulative effect of many genes, providing a more nuanced and comprehensive view of an individual's risk.
If you have a family history of cardiovascular disease or have received an early diagnosis, PRS testing may help you understand your genetic risk profile and support more personalized treatment decisions.
Current Clinical Applications include: Early risk prediction of atrial fibrillation, even before clinical symptoms appear; Identification of individuals at high risk of myocardial infarction, regardless of cholesterol levels; Risk stratification for personalized preventive therapy, including statins and PCSK9 inhibitors; Integration into major cardiovascular risk prediction tools, such as ASCVD and CHARGE-AF.
🧬 Want to know if a PRS could help you? Contact our cardiovascular genetics team for a personalized assessment.
Dr. El Hachmi is actively seeking collaborations in the following areas:
Partnering with clinical centers for larger-scale trials of novel therapies for inherited cardiac disorders, particularly in vEDS and HCM.
Establishing collaborations to share genetic and clinical data across international cohorts to improve variant classification and risk prediction.
Seeking partnerships with basic science laboratories to translate molecular discoveries into clinical applications for inherited cardiac disorders.
Developing joint educational programs for healthcare professionals on genetic testing and counseling for inherited cardiac disorders.