Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry

Barriales‐Villa, Roberto; Ochoa, Juan Pablo; Larrañaga‐Moreira, José M.; Salazar-Mendiguchía, Joel; Díez‐López, Carles; Restrepo-Córdoba, María Alejandra; Alvarez-Rubio, Jorge; Robles‐Mezcua, Ainhoa; Olmo-Conesa, María C.; Nicolas-Rocamora, Elisa; Sanz, J. Valero; Villacorta, Eduardo; Gallego‐Delgado, María; Yotti, Raquel; Espinosa, María Ángeles; Manovel, Ana; Rincón, Luis Miguel; Jiménez‐Jáimez, Juan; Jiménez, Francisco Bermúdez; Basurte-Elorz, M. Teresa; Climent-Payá, Vicente E.; García-Álvarez, María I.; Palomares, José F. Rodríguez; Freire, Javier Limeres; Pérez-Guerrero, Ainhoa; Cantero-Pérez, E.M.; Peña-Peña, María Luisa; Palomino-Doza, Julián; Crespo‐Leiro, María G.; García‐Pinilla, José Manuel; Zorio, Esther; Ripoll‐Vera, Tomás; García‐Pavía, Pablo; Ortíz-Genga, Martín; Monserrat, Lorenzo

doi:10.1016/j.rec.2020.03.026

Cited by 12 publications

(16 citation statements)

References 15 publications

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“…In our study, as many as 83% of the patients had non-missense mutations. This is a higher proportion than previous reports, 10 , 11 , 13 but in line with a Japanese laminopathy population. 20 The skewed proportions may explain the lack of association to VA.…”

Section: Discussionsupporting

confidence: 72%

“…Other recent studies have also reported similar risk between males and females and between different genotypes. 10 , 11 The previously reported arrhythmic risk of male sex should be further explored and explanations may include hormonal factors, sex-related exercise habits, 19 and other unknown factors. In our study, as many as 83% of the patients had non-missense mutations.…”

Section: Discussionmentioning

confidence: 99%

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Disease progression rate is a strong predictor of ventricular arrhythmias in patients with cardiac laminopathies: a primary prevention cohort study

et al. 2022

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Aims Cardiac disease progression prior to first ventricular arrhythmia (VA) in LMNA genotype–positive patients is not described. Methods and results We performed a primary prevention cohort study, including consecutive LMNA genotype–positive patients from our centre. Patients underwent repeated clinical, electrocardiographic, and echocardiographic examinations. Electrocardiographic and echocardiographic disease progression as a predictor of first-time VA was evaluated by generalized estimation equation analyses. Threshold values at transition to an arrhythmic phenotype were assessed by threshold regression analyses. We included 94 LMNA genotype–positive patients without previous VA (age 38 ± 15 years, 32% probands, 53% females). Nineteen (20%) patients experienced VA during 4.6 (interquartile range 2.1–7.3) years follow up, at mean age 50 ± 11 years. We analysed 536 echocardiographic and 261 electrocardiogram examinations. Individual patient disease progression was associated with VA [left ventricular ejection fraction (LVEF) odds ratio (OR) 1.4, 95% confidence interval (CI) 1.2–1.6 per 5% reduction, left ventricular end-diastolic volume index (LVEDVi) OR 1.2 (95% CI 1.1–1.3) per 5 mL/m2 increase, PR interval OR 1.2 (95% CI 1.1–1.4) per 10 ms increase]. Threshold values for transition to an arrhythmic phenotype were LVEF 44%, LVEDVi 77 mL/m2, and PR interval 280 ms. Conclusions Incidence of first-time VA was 20% during 4.6 years follow up in LMNA genotype–positive patients. Individual patient disease progression by ECG and echocardiography were strong predictors of VA, indicating that disease progression rate may have additional value to absolute measurements when considering primary preventive ICD. Threshold values of LVEF <44%, LVEDVi >77 mL/m2, and PR interval >280 ms indicated transition to a more arrhythmogenic phenotype.

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Section: Discussionsupporting

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Disease progression rate is a strong predictor of ventricular arrhythmias in patients with cardiac laminopathies: a primary prevention cohort study

et al. 2022

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“…1,2 Recent studies suggest a genetic origin for DCM in ∼40% of patients, and several genotypes have been associated with increased arrhythmogenicity or progression to end-stage heart failure (ESHF). [3][4][5][6][7][8] Myocardial scarring determined by late gadolinium enhancement (LGE) on cardiac magnetic resonance (CMR) imaging can be observed in 25%-40% of patients with DCM and its presence has emerged as a strong risk marker for all-cause mortality and ventricular arrhythmias. [9][10][11] Despite advances in the identification of new risk markers, assessing prognosis in patients with DCM remains challenging, and clinical decisions about treatment options, for example, eligibility for implantable cardioverter-defibrillator (ICD) therapy, are largely based on the presence of significant LV dysfunction.…”

Section: Introductionmentioning

confidence: 99%

“…Recent studies suggest a genetic origin for DCM in ∼40% of patients, and several genotypes have been associated with increased arrhythmogenicity or progression to end‐stage heart failure (ESHF) 3–8 …”

Section: Introductionmentioning

confidence: 99%

Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non‐ischaemic dilated cardiomyopathy

Mirelis

Escobar-López

Ochoa

et al. 2022

European J of Heart Fail

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“…There are 41 known LMNA mutations, as follows: 23 of them cause autosomal dominant Emery–Dreifuss muscular dystrophy (EDMD2), 8 of them cause dilated cardiomyopathy and 1 mutation causes autosomal recessive Emery Dreifuss (EDMD3) [ 7 , 8 ].…”

Section: Introductionmentioning

confidence: 99%

SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy

Dumitru

Vlad

Rugină

et al. 2021

Genes

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Emery–Dreifuss muscular dystrophy (EDMD) is a rare genetic disease that affects the musculoskeletal system, including the heart, causing rhythm disorders and cardiomyopathy, sometimes requiring an implantable cardioverter-defibrillator (ICD) or heart transplantation due to severe heart damage. The case described herein concerns a 16-year-old girl, with grade II obesity, without other known pathological antecedents or cardiac pathology diagnosis given an annual history of cardiological investigations. She was admitted to the Infectious Diseases Department with SARS-CoV-2 virus infection. The anamnesis showed that the cardiological investigations performed in the past were completed due to the medical history antecedents of her sister, who had been diagnosed with dilated cardiomyopathy, having undergone the placement of an ICD and a heart transplant. Numerous investigations were performed during hospitalization, which revealed high levels of high-sensitive cardiac troponin I (hs-cTnI), creatine kinase (CK) and N-terminal pro b-type natriuretic peptide (NT-proBNP). Dynamic electrocardiographic evaluations showed ventricular extrasystoles, without clinical manifestations. The patient presented stage 2 arterial hypertension (AHT) during hospitalization. A cardiac ultrasound was also performed, which revealed suspected mild subacute viral myocarditis with cardiomyopathy, and antihypertensive medication was initiated. A heart MRI was performed, and the patient was diagnosed with dilated cardiomyopathy, refuting the suspicion of viral subacute myocarditis. After discharge, as the patient developed gait disorders with an impossible heel strike upon walking and limitation of the extension of the arms and ankles, was hospitalized in the Neurology Department. Electrocardiograms (ECGs) were dynamically performed, and because the rhythm disorders persisted, the patient was transferred to the Cardiology Department. On Holter monitoring, non-sustained ventricular tachycardia (NSVT) was detected, so antiarrhythmic treatment was initiated, and placement of an ICD was subsequently decided and was diagnosed with EDMD. Genetic tests were also performed, and a mutation of the lamin A/C gene was detected (LMNA gene exon 2, variant c448A > C (p.Thr150pro), heterozygous form, AD).

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Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry

Cited by 12 publications

References 15 publications

Disease progression rate is a strong predictor of ventricular arrhythmias in patients with cardiac laminopathies: a primary prevention cohort study

Disease progression rate is a strong predictor of ventricular arrhythmias in patients with cardiac laminopathies: a primary prevention cohort study

Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non‐ischaemic dilated cardiomyopathy

SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy

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