Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

Abstract Introduction Arrhythmogenic cardiomyopathy (AC) is characterized by myocyte necrosis and progressive fibro-fatty substitution. Recently, truncated mutations on Filamin C gene have been correlated with AC and a peculiar phenotype characterized by a prominent left ventricular fibrosis and high risk of sudden death. Purpose To evaluate clinical and instrumental features of subjects affected by AC in whom genetic study identified presence of truncating and missense mutations on FLNC gene. Materials and methods A population of 192 probands affected by AC according to 2010 Task Force Criteria or McKenna's proposed criteria for left dominant AC were evaluated for FLNC variants. In positive probands and families anamnestic and clinical data (ECG, echocardiographic and cardiac magnetic resonance (CMR), twenty-four-hours ECG monitoring) were evaluated. Results A total of 19 subjects (9 probands and 10 family members) were identified as carrier of nine different FLNC mutations (5 truncating and 4 missense). In 3 patients (23%) clinical onset was characterized by major arrhythmic episodes and in one (8%) by sudden death. In 6 (46%) ECG was unremarkable and the most common abnormalities were low QRS voltages in peripheral leads (85%), followed by T wave inversion in lateral (15%) and in inferior leads (16%). Twenty-four-hours ECG monitoring revealed a high arrhythmic burden (PVC >500/die) in 6 cases (46%). CMR was performed in all patients. Four of them (31%) showed a LV dilatation, while in 2 cases (15%) a RV dilatation was present. In 8 (61%) a fatty infiltration was detected mainly affecting the left ventricle (6 cases, 46%). Moreover, late enhancement was present in 8 cases (62%), with a LV distribution. Conclusions This is the first studied population in which both truncating and missense variants were evaluated as causative of AC, confirming that FLNC gene mutations are rare (4% of probands without known AC causative mutations) and the prevalent clinical expression is a left dominant phenotype with a high degree of electrical instability and recurrence of sudden familial cardiac death. Funding Acknowledgement Type of funding source: None

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A meta-analysis of 2019 novel corona virus patient clinical characteristics and comorbidities

10.21203/rs.3.rs-21831/v1 ◽

2020 ◽

Cited By ~ 2

Author(s):

Subodh Sharma Paudel

Keyword(s):

High Risk ◽

Clinical Characteristics ◽

English Language ◽

Meta Analysis ◽

Previous History ◽

Female Ratio ◽

Number Of Patients ◽

New Variant ◽

History Of ◽

Male To Female

Abstract IntroductionBeing a new variant of coronavirus, detailed information regarding the virulence, its clinical characters, high risk individuals are yet to be defined. This study was done with the objective of finding out clinical features of corona infection and also studies what are the comorbidities that are associated with it.MethodsThis is a single arm meta-analysis in which relevant data were derived from searches in PubMed. It includes study papers which were written in English language and their completely published article is found. Seven articles published from 24th Jan to 16th March, 2020 are included in this study. ResultsThe total number of patients was 1786 with 1044 males and 742 females with male to female ratio of 1.4:1. The median age of patients was 41 years). Fever was present in 88.8% cases. Dry Cough in 68% followed by fatigue in 33%. Hypertension (15.8%) is the most common comorbidity followed by cardio and cerebrovascular condition (11.7%). ConclusionPatients often presented with symptoms of fever, dry cough, lethargy and fatigue, muscle pain, productive cough. Similarly, patients with previous history of HTN, DM, COPD, cardio and cerebrovascular condition, immune-deficient states are at high risk of developing into the severe COVID-19 infection.

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