Clinical features, etiology and survival in patients with restrictive cardiomyopathy: A single center experience

Abstract

Background: Numerous prognostic factors have been proposed for cardiac amyloidosis (CA). The knowledge about other subtypes of restrictive cardiomyopathy (RCM) is scant.Aims: This study aimed to elucidate the etiology and prognostic factors of RCM as well as assess cardiac biomarkers: high-sensitive troponin T (hs-TnT), growth differentiation factor-15 (GDF-15), N-terminal pro-B-type natriuretic peptide (NT-proBNP), and soluble suppression of tumorigenicity 2, as mortality predictors in RCM. Methods:We enrolled 36 RCM patients in our tertiary cardiac department. All patients were screened for CA. Genetic testing was performed in 17 patients without CA.Results: Pathogenic or likely pathogenic gene variants were found in 86% of patients, including 5 novel variants. Twenty patients died, and 4 had a heart transplantation during the study. Median overall survival was 29 months (8-55). The univariate Cox models analysis indicated that systolic and diastolic blood pressure, GDF-15, hs-TnT, NT-proBNP, left ventricular stroke volume, the ratio of the transmitral early peak velocity (E) estimated by pulsed wave Doppler over the early mitral annulus velocity (e'), tricuspid annulus plane systolic excursion, early tricuspid valve annular systolic velocity, the presence of pulmonary hypertension, and pericardial effusion influenced survival (P <0.05). A worse prognosis was observed in patients with GDF-15 >1316 pg/ml, hs-TnT >42 ng/l, NT-proBNP >3383 pg/ml, and pericardial effusion >3.5 mm (Kaplan-Meier analysis, log-rank test, P <0.001).Conclusions: Genetic testing should be considered in every RCM patient where light-chain amyloidosis has been excluded. Survival remains poor regardless of etiology. Increased concentrations of GDF-15, hs-TNT, NT-proBNP, and pericardial effusion are associated with worse prognosis. Further studies are warranted.

A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy

“…We reported this variant for the first time to VarSome and the LOVD database (ID00436735). It has also recently been found in one patient with restrictive cardiomyopathy (RCM) phenotype and published by Szczygiel et al (Szczygieł et al, 2023).…”

“…In this study, we report a MYH7 variant responsible for HCM with LVOTO in a five-generation family. The presented variant has never been reported in the genetic databases, and has only recently been reported to be found in one patient with RCM phenotype in the publication by Szczygieł et al (Szczygieł et al, 2023). However, based on this isolated finding, there is not enough data to determine whether this variant could be also responsible for the RCM phenotype.…”

“…Molecular testing revealed the presence of the NM_000257.4:c.2342T>A (p.Leu781Gln) variant in MYH7 ( Figures 1 , 2 Supplementary Figure S2 ). This variant has never been reported before as causative of HCM, and only recently has been found in one patient with RCM ( Szczygieł et al, 2023 ), and is also indicated as a damaging or disease-causing by several bioinformatic tools.…”

Restrictive cardiomyopathies: The need for a better characterization of a deadly disease

“…In this issue of Kardiologia Polska, Szczygieł and colleagues [8] provide interesting etiolo gical, genetic, and prognostic insights (Figure 1) on a prospective cohort of patients enrolled in a single tertiary center. Thirty-six consecutive patients received a diagnosis of RCM from 2015 to 2016.…”