Cardiac MRI after Sudden Cardiac Arrest in a Young Woman Prompts Diagnosis of Familial Dilated Cardiomyopathy

Hustings, Nico; Ballaer, Valerie Van; Barrios, Leticia

doi:10.5334/jbsr.3064

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Dilated Cardiomyopathy (Dcm)1

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2024

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“…The prevalence of DCM is 1:250, of which 30-50% are familial cases [29] and approximately 40% of cases have an identifiable genetic cause [30], and DCM is responsible for 1-3% of SCD cases in athletes [9].…”

Section: Dilated Cardiomyopathy (Dcm)mentioning

confidence: 99%

Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Autopsy

Salzillo,

Sansone,

Napolitano

2024

CIMB

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Sudden cardiac death (SCD) is defined as unexpected death due to a cardiac cause that occurs rapidly. Despite the identification of prevention strategies, SCD remains a serious public health problem worldwide, accounting for 15–20% of all deaths, and is therefore a challenge for modern medicine, especially when it affects young people. Sudden cardiac death in young people affects the population aged ≤ 35 years, including athletes and non-athletes, and it is due to various hereditary and non-hereditary causes. After an autopsy, if the cause remains unknown, it is called sudden unexplained death, often attributable to genetic causes. In these cases, molecular autopsy—post-mortem genetic testing—is essential to facilitate diagnostic and therapeutic pathways and/or the monitoring of family members of the cases. This review aims to elaborate on cardiac disorders marked by genetic mutations, necessitating the post-mortem genetic investigation of the deceased for an accurate diagnosis in order to facilitate informed genetic counseling and to implement preventive strategies for family members of the cases.

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Section: Dilated Cardiomyopathy (Dcm)mentioning

confidence: 99%