Cardiogen Research

Berthelot E, Bauer F, Fauvel C, Paclot M, Eicher JC, de Groote P et al.

Post-capillary pulmonary hypertension (pcPH) is a frequent complication of heart failure (HF), associated with poor outcomes. While right heart catheterization (RHC) is the diagnostic gold standard, echocardiographic indices such as left atrial volume index (LAVI) and the TAPSE/PASP ratio may off...

Camargo S, Medeiros C, Silva L, Jesus RL, Araujo F, Brito D et al.

Background: Arterial hypertension (AH) remains a global health concern due to its multifactorial etiology, limited therapeutic success, and high cardiovascular risk. In this context, plant-derived compounds such as essential oils have gained attention as alternative strategies. The monoterpene (-...

Bardin T, Bigorre N, Hachulla E, Chapurlat R, Delbarre MA, Obert L et al.

Musculoskeletal manifestations of transthyretin amyloidosis (ATTR) are common, early in the disease course (usually years before cardiac involvement), and are potentially predictive. They include carpal tunnel syndrome (CTS), trigger finger, atraumatic tears of the brachial biceps tendon or rotat...

Chatelain FC, de Oliveira BR, Grataloup G, Robert N, Alameh M, Thollet A et al.

Inherited mutations in the KCNH2 gene, which encodes the cardiac hERG potassium channel, are major contributors to arrhythmogenic syndromes such as long QT and short QT syndromes. However, clinical interpretation of the growing number of missense variants - many of which are classified as variant...

Peulier-Maitre E, Goutaki M, Nathan N, Patout M, Amedro P, Beltramo G et al.

Transition of adolescents with chronic diseases to adult care is at risk of health complications and loss of medical follow-up. There is currently no official general consensus specific to rare pulmonary diseases. We aimed at setting up a consensus of experts to establish a consensus statement fo...

Guijarro D, Eicher JC, Bézard M, Piriou N, Sauer F, Roubille F et al.

Guidelines recommend screening for transthyretin amyloid cardiomyopathy (ATTR-CM) after age 65 years, yet some patients are diagnosed earlier.The purpose of this study was to compare the proportion, clinical characteristics, and prognosis of wild-type ATTR-CM diagnosed ≤65 years (ATTRwt-Yy...

Koutsogiannaki S, Hou L, Alhamdan F, Mastali M, Murray C, Van Eyk J et al.

CD11c (integrin αX) is one of the β2 integrin members traditionally recognized as a dendritic cell marker. It forms the CD11c/CD18 heterodimer-also known as complement receptor 4 (CR4)-and mediates ligand binding to complement fragments, fibrinogen, and intercellular adhesion molecule...

Deux JF, Brugières P, Kharoubi M, Zaroui A, Oghina S, Damy T et al.

Background/Objectives: Carpal tunnel syndrome (CTS) may signal extracardiac amyloid deposition years before transthyretin cardiac amyloidosis (ATTR-CA). This study investigated potential alterations of wrist tissue T1 values in ATTR-CA patients. Methods: Patients with ATTR-CA and healthy voluntee...

Réant P, Kharoubi M, Donal E, Bauer F, Bézard M, Bisson A et al.

Cardiac amyloidosis (CA) is a rare disease that can lead to poor quality of life, conduction disorders, arrhythmia, heart failure, and even death. Fortunately, specific treatments that can modify the natural history of the disease and the disease outcomes are now available. However, data on the p...

Garcia-Pavia P, Gonzalez-Lopez E, Anderson LJ, Cappelli F, Damy T, Fontana M et al.

This clinical consensus statement, developed by the Heart Failure Association of the European Society of Cardiology, offers a detailed review of the non-specific management of transthyretin amyloid cardiomyopathy (ATTR-CM). This progressive and often fatal condition is increasingly recognized as ...

Verdonschot JAJ, Kaski JP, Asselbergs FW, Behr ER, Charron P, Dawson D et al.

Genetic family screening following the detection of a pathogenic or likely pathogenic variant in a proband with dilated cardiomyopathy (DCM) remains one of the main applications of genetic testing. While cardiac screening is recommended for all first-degree relatives, the a priori risk among fami...

Jobbé-Duval A, Damy T, Broussier A

Oghina S, Legallois D, Hyafil F, Amara W, Andrès E, Bardin T et al.

Diagnosis of cardiac amyloidosis (CA) is complex and implicates several medical specialists. CA is usually suspected based on symptoms ('red flags') and non-invasive imagery. Early diagnosis and appropriate treatment are critical in patients with CA.The DIAM-ATTR survey assessed the diagnostic pa...

Jobbé-Duval A, Kharoubi M, Donal E, Bauer F, Broussier A, Bisson A et al.

Cardiac transthyretin amyloidosis (ATTR-CM) is a life-threatening cardiomyopathy. Tafamidis has been demonstrated to be an effective treatment. Our aim was to analyze clinical characteristics and survival of patients with ATTR-CM aged ≥80 years diagnosed after November 2018, treated w...

Zaroui A, Lafont C, Kharoubi M, Audureau E, Bézard M, Hentati M et al.

We explored sex differences in wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM) and determined survival and prognostic factors.In a retrospective cohort study at a reference centre in France from 1 January 2008 to 31 December 2022, multiple regression analyses, supervised clustering, Co...

Chen D, Chen Y, Liu J, Liu X, Liu P, Zhan J et al.

Arterial thrombosis is commonly accompanied by poor recanalization and high recurrence, typically caused by a fibrinolysis-resistant microenvironment. We identify elevated levels of plasminogen activator inhibitor-1 (PAI-1) and, notably, its strong correlation with inflammation in arterial thromb...

Sakata Y, Nochioka K, Yasuda S, Ishida K, Shiroto T, Takahashi J et al.

The clinical guidelines categorize heart failure (HF) based on left ventricular ejection fraction (LVEF). However, the current LVEF cutoffs, 40% and 50%, may not fully address the underlying characteristics and cardiovascular risk of HF, particularly for HF with higher LVEF. This study aimed to c...

Qaqorh T, Takahashi Y, Sameshima K, Otani K, Yazawa I, Nishida Y et al.

Oxidative phosphorylation defects result in now intractable mitochondrial diseases (MD) with cardiac involvement markedly affecting prognosis. The mechanisms underlying the transition from compensation to dysfunction in response to metabolic deficiency remain unclear. Here, we used spatially reso...

Moraes RA, Brito DS, Araujo FA, Jesus RLC, Silva LB, Lima GBC et al.

Reduced NO synthesis and/or bioavailability is related with many cardiovascular diseases, such as coronary artery disease and hypertension. This study aimed to evaluate the effects of cis-[Ru(NO)(NO2)(phen)2](PF6)2-(NONO2P) on blood pressure in normotensive and hypertensive rats. Specifically, we...

Gaudillat L, Patay L, Sawka C, Baurand A, Nambot S, Level C et al.

Scientific advances in genomics are transforming healthcare and prevention. However, they also increase situations of uncertainty, which in turn increase vulnerability not only for patients and their families but also for professionals. Cardiogenetics plays a crucial role in preventing sudden dea...