ORCID Profile
0000-0002-5203-4822
Current Organisation
Ghent University
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Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 02-2023
DOI: 10.1161/CIRCGEN.121.003672
Abstract: Truncating variants in desmoplakin ( DSP tv) are an important cause of arrhythmogenic cardiomyopathy however the genetic architecture and genotype-specific risk factors are incompletely understood. We evaluated phenotype, risk factors for ventricular arrhythmias, and underlying genetics of DSP tv cardiomyopathy. In iduals with DSP tv and any cardiac phenotype, and their gene-positive family members were included from multiple international centers. Clinical data and family history information were collected. Event-free survival from ventricular arrhythmia was assessed. Variant location was compared between cases and controls, and literature review of reported DSP tv performed. There were 98 probands and 72 family members (mean age at diagnosis 43±8 years, 59% women) with a DSP tv, of which 146 were considered clinically affected. Ventricular arrhythmia (sudden cardiac arrest, sustained ventricular tachycardia, appropriate implantable cardioverter defibrillator therapy) occurred in 56 (33%) in iduals. DSP tv location and proband status were independent risk factors for ventricular arrhythmia. Further, gene region was important with variants in cases (cohort n=98 Clinvar n=167) more likely to occur in the regions resulting in nonsense mediated decay of both major DSP isoforms, compared with n=124 genome aggregation database control variants (148 [83.6%] versus 29 [16.4%] P .0001). In the largest series of in iduals with DSP tv, we demonstrate that variant location is a novel risk factor for ventricular arrhythmia, can inform variant interpretation, and provide critical insights to allow for precision-based clinical management.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 16-11-2021
DOI: 10.1161/CIRCULATIONAHA.121.053521
Abstract: Filamin C truncating variants ( FLNCtv ) cause a form of arrhythmogenic cardiomyopathy: the mode of presentation, natural history, and risk stratification of FLNCtv remain incompletely explored. We aimed to develop a risk profile for refractory heart failure and life-threatening arrhythmias in a multicenter cohort of FLNCtv carriers. FLNCtv carriers were identified from 10 tertiary care centers for genetic cardiomyopathies. Clinical and outcome data were compiled. Composite outcomes were all-cause mortality/heart transplantation/left ventricle assist device (D/HT/LVAD), nonarrhythmic death/HT/LVAD, and sudden cardiac death/major ventricular arrhythmias. Previously established cohorts of 46 patients with LMNA and 60 with DSP -related arrhythmogenic cardiomyopathies were used for prognostic comparison. Eighty-five patients carrying FLNCtv were included (42±15 years, 53% men, 45% probands). Phenotypes were heterogeneous at presentation: 49% dilated cardiomyopathy, 25% arrhythmogenic left dominant cardiomyopathy, 3% arrhythmogenic right ventricular cardiomyopathy. Left ventricular ejection fraction was % in 64% of carriers and 34% had right ventricular fractional area changes (RVFAC=(right ventricular end-diastolic area – right ventricular end-systolic area)/right ventricular end-diastolic area) %. During follow-up (median time 61 months), 19 (22%) carriers experienced D/HT/LVAD, 13 (15%) experienced nonarrhythmic death/HT/LVAD, and 23 (27%) experienced sudden cardiac death/major ventricular arrhythmias. The sudden cardiac death/major ventricular arrhythmias incidence of FLNCtv carriers did not significantly differ from LMNA carriers and DSP carriers. In FLNCtv carriers, left ventricular ejection fraction was associated with the risk of D/HT/LVAD and nonarrhythmic death/HT/LVAD. Among patients referred to tertiary referral centers, FLNCtv arrhythmogenic cardiomyopathy is phenotypically heterogeneous and characterized by a high risk of life-threatening arrhythmias, which does not seem to be associated with the severity of left ventricular dysfunction.
Publisher: Springer Science and Business Media LLC
Date: 11-2021
Publisher: Magnolia Press
Date: 06-07-2021
DOI: 10.11646/PHYTOTAXA.510.2.1
Abstract: Coelogyne has been shown in analyses of molecular data to be polyphyletic with 14 other genera of Coelogyninae (Arethuseae) embedded. Three possible solutions to establish an alternative classification are considered: lumping all of these in the oldest genus, in this case Coelogyne, distinguishing two genera corresponding to the two main clades in the alliance or recognition of many new genera to accommodate the groups of Coelogyne that are more closely related to some of these other genera. The second and third alternatives are considered non-viable because there are no reliable morphological characters that can be used to identify these taxa. Here, we make the necessary combinations and new names to make the first option possible.
Location: Indonesia
No related grants have been discovered for Bobby Sulistyo.