scholarly journals Genetic Diagnosis in Sudden Cardiac Death: The Crucial Role of Multidisciplinary Care

2021 ◽  
Vol 11 (2) ◽  
pp. 68-72
Author(s):  
S. N. van der Crabben ◽  
F. L. Komdeur ◽  
E. J. Nossent ◽  
R. H. Lekanne Deprez ◽  
E. A. Broekhuizen ◽  
...  

Sudden death, especially at a young age, may be caused by an underlying genetic cause. Hereditary conditions with an increased risk of sudden death at a young age include cardiomyopathies, arrhythmia syndromes, and hereditary thoracic aortic aneurysms and dissections. The identification of a genetic cause allows for genetic testing and cardiological surveillance in at-risk relatives. Three sudden death cases from our hospital illustrate the value of autopsy, genetic, and cardiological screening in relatives following a sudden death. On autopsy, histology consistent with hereditary cardiomyopathy is a reason for the referral of relatives. In addition, in the absence of an identifiable cause of death by autopsy in young sudden death patients, arrhythmia syndrome should be considered as a potential genetic cause.

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
A S Ijpma ◽  
D Heijsman ◽  
J W Roos-Hesselink ◽  
H J M Verhagen ◽  
S Ter Raa ◽  
...  

Abstract Introduction Familial disease, with a genetic cause, occurs in at least 20–30% of the families of patients with an aortic aneurysm. In these families there is an increased risk for relatives. Therefor family screening is recommended around the age of 50–60 years for first degree relatives of patients with an abdominal aneurysm (AAA) and relatives of patients with thoracic aorta aneurysms (TAA). However current guidelines do not specify the extend of aorta screening for relatives of patients with AAA and patients with TAA. Current practice is that first degree relatives of AAA patients are offered abdominal echo screening for AAA and relatives of TAA patients cardiologic echo for TAAA. Although co- occurrence of AAA with TAAA in rare genetic disease is well known, for other familial aneurysm disease, the frequency of the co-occurrence of AAA and TAAA has not been established. Purpose To improve family screening for familial aneurysm, and identify the role of underlying genetic defects. Methods To determine the genetics of AAA, whole exome sequencing and CT family screening of the complete aorta was performed in 391 families with familial aneurysm. These families are nested in a patient cohort ascertained form unselected consecutively diagnosed AAA patients visiting the Vascular Surgery Clinic at the our MC. Results In 391 families, 360 relatives had a dilated aorta. The spectrum of aortic features in the relatives included 210 (58%) relatives with AAA, 102 (28%) relatives with TAA. Co-occurrence of AAA and TAA was noted in 41 (11%) relatives. In addition 66 (18%) and 79 (22%) had a dilation in the arteria iliaca communis sinistra resp. dextra. In 18 families pathogenic mutations in 11 aneurysm genes were detected. Conclusion To reduce underdiagnoses of relatives of AAA patients, CT screening of the total aorta and the iliac arteries is the method of choice, and should replace echo screening of specific parts of the aorta in relatives. Updating the guidelines for family screening for aortic aneurysms is needed to improve early detection and treatment of family members with aorta dilatations. Acknowledgement/Funding Stichting Lijf en Leven


2020 ◽  
Vol 29 ◽  
pp. S302
Author(s):  
C. Gover ◽  
S. Maleki ◽  
B. Hambly ◽  
P. Bannon ◽  
R. Jeremy ◽  
...  

2013 ◽  
Vol 183 (1) ◽  
pp. 472-477 ◽  
Author(s):  
Ayako Nagasawa ◽  
Koichi Yoshimura ◽  
Ryo Suzuki ◽  
Akihito Mikamo ◽  
Osamu Yamashita ◽  
...  

2009 ◽  
Vol 44 (2) ◽  
pp. 101-104 ◽  
Author(s):  
Jonathan N. Bowman ◽  
Daniel Silverberg ◽  
Sharif Ellozy ◽  
Victoria Teodorescu ◽  
Honesto Poblete ◽  
...  

2021 ◽  
Vol 6 (9-10) ◽  
pp. 719-730
Author(s):  
Francesco G. Irace ◽  
Vittoria Cammisotto ◽  
Valentina Valenti ◽  
Maurizio Forte ◽  
Leonardo Schirone ◽  
...  

2019 ◽  
Vol 109 ◽  
pp. 70-78 ◽  
Author(s):  
Federica Cosentino ◽  
Valentina Agnese ◽  
Giuseppe M. Raffa ◽  
Giovanni Gentile ◽  
Diego Bellavia ◽  
...  

2022 ◽  
pp. 1-11
Author(s):  
Madhumitha Manivannan ◽  
Julia Heunis ◽  
Sarah M. Hooper ◽  
Alissa Bernstein Sideman ◽  
Kristi P. Lui ◽  
...  

Background: Financial mismanagement and abuse in dementia have serious consequences for patients and their families. Vulnerability to these outcomes reflects both patient and contextual factors. Objective: Our study aimed to assess how multidisciplinary care coordination programs assist families in addressing psychosocial vulnerabilities and accessing needed resources. Methods: Our study was embedded in a clinical trial of the Care Ecosystem, a telephone- and internet-based supportive care intervention for patients with dementia and caregivers. This program is built around the role of the Care Team Navigator (CTN), an unlicensed dementia care guide who serves as the patient and caregiver’s primary point of contact, screening for common problems and providing support. We conducted a qualitative analysis of case summaries from a subset of 19 patient/caregiver dyads identified as having increased risk for financial mismanagement and abuse, to examine how Care Ecosystem staff identified vulnerabilities and provided support to patients and families. Results: CTNs elicited patient and caregiver needs using templated conversations to address common financial and legal planning issues in dementia. Sources of financial vulnerability included changes in patients’ behavior, caregiver burden, intrafamily tension, and confusion about resources to facilitate end-of-life planning. The Care Ecosystem staff’s rapport with their dyads helped them address these issues by providing emotional support, information on how to access financial, medical, and legal resources, and improving intra-familial communication. Conclusion: The Care Ecosystem offers a scalable way to address vulnerabilities to financial mismanagement and abuse in patients and caregivers through coordinated care by unlicensed care guides supported by a multidisciplinary team.


2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Lv Liu ◽  
Kai Yang ◽  
Xiang Wang ◽  
Zhihui Shi ◽  
Yifeng Yang ◽  
...  

Birt-Hogg-Dube syndrome (BHD, OMIM#135150) is a rare disease in clinic; it is characterized by skin fibrofolliculomas, pulmonary cysts with an increased risk of recurrent pneumothorax, renal cysts, and renal neoplasms. Previous studies have demonstrated that variants in folliculin (FLCN, NM_144997) are mainly responsible for this disease. In this research, we enrolled two BHD families and applied direct sequencing of FLCN to explore the genetic lesions in them. Two FLCN mutations were identified: one is a novel deletion variant (c.668delA/p.N223TfsX19), while the other is a previously reported insertion mutation (c.1579_1580insA/p.R527QfsX75). And the pathogenicity of both variants was confirmed by cosegregation assay. Bioinformatics analysis showed that c.668delA may lead to functional haploinsufficiency of FLCN because mRNA carrying this mutation exhibits a faster degradation rate comparing to the wild type. Real-time qPCR also confirmed that the mRNA level of FLCN expression in the proband was decreased significantly compared with the controls, which may disrupt the mTOR pathway and lead to BHD. The insertion mutation (c.1579_1580insA) was predicted to cause a prolonged amino acid sequence of FLCN. The present identification of two mutations not only further supports the important role of tumor suppressor FLCN in BHD and primary spontaneous pneumothorax, but also expands the spectrum of FLCN mutations and will provide insight into genetic diagnosis and counseling of families with BHD.


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