2 research outputs found
Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non-ischaemic dilated cardiomyopathy
Aims: Genotype and left ventricular scar on cardiac magnetic resonance (CMR) are increasingly recognized as risk markers for adverse outcomes in non-ischaemic dilated cardiomyopathy (DCM). We investigated the combined influence of genotype and late gadolinium enhancement (LGE) in assessing prognosis in a large cohort of patients with DCM. Methods and results: Outcomes of 600 patients with DCM (53.3 ± 14.1 years, 66% male) who underwent clinical CMR and genetic testing were retrospectively analysed. The primary endpoints were end-stage heart failure (ESHF) and malignant ventricular arrhythmias (MVA). During a median follow-up of 2.7 years (interquartile range 1.3â4.9), 24 (4.00%) and 48 (8.00%) patients had ESHF and MVA, respectively. In total, 242 (40.3%) patients had pathogenic/likely pathogenic variants (positive genotype) and 151 (25.2%) had LGE. In survival analysis, positive LGE was associated with MVA and ESHF (both, p < 0.001) while positive genotype was associated with ESHF (p = 0.034) but not with MVA (p = 0.102). Classification of patients according to genotype (G+/Gâ) and LGE presence (L+/Lâ) revealed progressively increasing events across Lâ/Gâ, Lâ/G+, L+/Gâ and L+/G+ groups and resulted in optimized MVA and ESHF prediction (p < 0.001 and p = 0.001, respectively). Hazard ratios for MVA and ESHF in patients with either L+ or G+ compared with those with Lâ/Gâ were 4.71 (95% confidence interval: 2.11â10.50, p < 0.001) and 7.92 (95% confidence interval: 1.86â33.78, p < 0.001), respectively. Conclusion: Classification of patients with DCM according to genotype and LGE improves MVA and ESHF prediction. Scar assessment with CMR and genotyping should be considered to select patients for primary prevention implantable cardioverter-defibrillator placementThis work was supported by grants from the Instituto de Salud
Carlos III (ISCIII) (PI18/0004, PI19/01283, PI20/0320). (Co-funded
by European Regional Development Fund/European Social Fund
âA way to make Europeâ/âInvesting in your futureâ). The Hospital
Universitario Puerta de Hierro Majadahonda, the Hospital Clinic,
the Hospital Vall dâHebron, the Hospital General Universitario
Gregorio Marañón and the Hospital Universitario Virgen de la
Arrixaca are members of the European Reference Network for
rare, low-prevalence, and complex diseases of the heart (ERN
GUARD-Heart). The CNIC is supported by the ISCIII, MCIN,
the Pro-CNIC Foundation, and the Severo Ochoa Centers of
Excellence program (CEX2020-001041-S).
Conflict of interest: none declare
Development and Validation of a Prediction Model and Score for Transthyretin Cardiac Amyloidosis Diagnosis: T-Amylo.
BACKGROUND
Although transthyretin cardiac amyloidosis (ATTR-CA) is often underdiagnosed, clinical suspicion is essential for early diagnosis.
OBJECTIVES
The aim of this study was to develop and validate a feasible prediction model and score to facilitate the diagnosis of ATTR-CA.
METHODS
This retrospective multicenter study enrolled consecutive patients who underwent 99mTc-DPD scintigraphy for suspected ATTR-CA. ATTR-CA was diagnosed if Grade 2 or 3 cardiac uptake was evidenced on 99mTc-DPD scintigraphy in the absence of a detectable monoclonal component or by demonstration of amyloid by biopsy. A prediction model for ATTR-CA diagnosis was developed in a derivation sample of 227 patients from 2 centers using multivariable logistic regression with clinical, electrocardiography, analytical, and transthoracic echocardiography variables. A simplified score was also created. Both of them were validated in an external cohort (n = 895) from 11 centers.
RESULTS
The obtained prediction model combined age, gender, carpal tunnel syndrome, interventricular septum in diastole thickness, and low QRS interval voltages, with an area under the curve (AUC) of 0.92. The score had an AUC of 0.86. Both the T-Amylo prediction model and the score showed a good performance in the validation sample (ie, AUC: 0.84 and 0.82, respectively). They were tested in 3 clinical scenarios of the validation cohort: 1) hypertensive cardiomyopathy (n = 327); 2) severe aortic stenosis (n = 105); and 3) heart failure with preserved ejection fraction (n = 604), all with good diagnostic accuracy.
CONCLUSIONS
The T-Amylo is a simple prediction model that improves the prediction of ATTR-CA diagnosis in patients with suspected ATTR-CA.Part of this project was funded by Pfizer through an independent
general research grant (number 64764667). This study has been
partially funded by Instituto de Salud Carlos III through the project
"PI20/01379â (co-funded by European Regional Development Fund/
European Social Fund "A way to make Europe"/"Investing in your
future"). The CNIC is supported by the ISCIII, MCIN, the Pro-CNIC
Foundation, and the Severo Ochoa grant (CEX2020-001041-S). Dr
Basurte Elorz has received a consultant fee from Pfizer. All other
authors have reported that they have no relationships relevant to the
contents of this paper to disclose.S