Sudden death in Marfan syndrome.

J Forensic Sci

Department of Forensic Medicine, MS Ramaiah Medical College, Bangalore, 560054, India.

Published: July 2014

Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue. The most serious complications of this syndrome are defects of the heart valves and aorta. Aneurysms of thoracic aorta are known to develop in Marfan syndrome. Other causes for development of aneurysms of the thoracic aorta are trauma, infections, valve and arch anomalies, genetic disorders, and atherosclerosis. These aneurysms upon rupture may lead to sudden deaths. They are usually detected during routine screening or follow-up of such persons suffering from Marfan syndrome and upon death will be certified by the treating physician. Thus, an autopsy surgeon rarely comes across such deaths. One such case of sudden death due to cardiac tamponade consequent upon rupture of dissecting aortic aneurysm in a 33-year-old male who complained of throbbing pains in the chest, radiating to back, became breathless, cyanotic and died on the way to hospital is being presented here.

Download full-text PDF

Source
http://dx.doi.org/10.1111/1556-4029.12415DOI Listing

Publication Analysis

Top Keywords

marfan syndrome
16
sudden death
8
aneurysms thoracic
8
thoracic aorta
8
syndrome
5
marfan
4
death marfan
4
syndrome marfan
4
syndrome autosomal
4
autosomal dominant
4

Similar Publications

Marfan syndrome (MFS) is an autosomal dominant disorder affecting the connective tissue, often leading to aortic root dilation, aneurysm, and dissection. We report on a 35-year-old Bangladeshi female patient with MFS who presented with chest pain, shortness of breath, and a significant aortic root aneurysm, along with a reduced ejection fraction (EF) of 20%-25%. Imaging confirmed significant aortic dilation, and due to the high risk of mortality, an urgent Bentall procedure was performed.

View Article and Find Full Text PDF

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Genome Med

December 2024

European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD and MSA Rare Disease, Working Group, Paris, France.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

View Article and Find Full Text PDF

We describe the case of a 72-year-old male suffering from Marfan syndrome, who, because of cardiac abnormalities correlated to the syndrome, received an orthotopic heart transplant four years ago. In 2024, he was diagnosed with right colon cancer. The decision to operate was difficult because of the elevated perioperative risk.

View Article and Find Full Text PDF

Introduction and objectives The Bentall procedure is a surgical technique designed to address aortic root abnormalities, including issues with the aortic valve, aortic root, and ascending aortic disease. This study aimed to assess the short-term outcomes of 39 patients who underwent the Bentall and concomitant procedures: aortic root enlargement, personalized external aortic root support (PEARS), and Mini-Bentall procedures at a single center. Methodology We conducted a retrospective study involving 39 patients who underwent surgery for aortic root pathologies such as dissection, Marfan syndrome (MFS), bicuspid aortic valve, degenerative disease, and atherosclerosis at our hospital between January 2019 and September 2024.

View Article and Find Full Text PDF

Background: COVID-19 infection and vaccination have been reported to confer an elevated risk for cardiovascular events (CVE). We sought to determine whether individuals with an underlying vascular connective tissue disorder including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), or vascular Ehlers Danlos syndrome (vEDS) are at increased risk for cardiac events after COVID-19 infection or vaccination.

Methods: 325 respondents self-reported data through a cross-sectional, web-based survey available from 22 November 2021, through 15 March 2022 regarding COVID-19 illness and vaccinations, the occurrence of any CVE, and adverse events following vaccination.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!