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Plötzlicher Herztod junger Patienten

Wie können Aufklärung familiärer Kardio(myo)pathien und Prävention verbessert werden?

Sudden cardiac death in the young

How can disease recognition and prevention in family members be improved?

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Zusammenfassung

Ein plötzlicher Herztod eines jungen Menschen (< 45 Jahre) ist ein insgesamt seltenes Ereignis. Es ist aber besonders tragisch, da es häufig einen scheinbar gesunden Menschen trifft und das erste Symptom einer bisher nicht bekannten Herzerkrankung sein kann. Gleichzeitig kann der Todesfall eine familiäre Erkrankung demaskieren. Die Wahrscheinlichkeit, dass eine kongenitale strukturelle Erkrankung oder eine Ionenkanalerkrankung des Herzens vorliegt, ist bei jüngeren Patienten deutlich erhöht. Jeder plötzliche Herztod muss daher einen umfassenden Versuch der Ursachenklärung in Gang setzen, der bereits mit einer Autopsie inklusive einer molekularen Autopsie beginnen sollte. Die Veranlassung einer familiären Abklärung gilt auch für jeden Arzt, der im Rahmen einer Familienanamnese sehr viel später mit einem Fall eines plötzlichen Herztodes eines jungen Patienten konfrontiert wird. Nur so kann es gelingen, betroffene Familienmitglieder zu identifizieren, kardiologisch zu überwachen und weitere Todesfälle durch eine prophylaktische Therapie zu verhindern [33].

Abstract

Sudden cardiac death (SCD) in young patients (< 45 years of age) is a rare event. However, it is particularly tragic as it affects active and often otherwise healthy individuals. Furthermore, SCD may unmask an underlying congenital structural disease or channelopathy. The leading cause of SCD is coronary artery disease; however, the likelihood of an underlying congenital cardiac disease is higher in young individuals. Each SCD should therefore initiate a thorough work-up of an underlying cardiac cause, which should ideally include a molecular autopsy. Familial screening should also be initiated if a physician is years later confronted with a history of SCD in a young patient. The common aim is to prompt identification of affected family members, to include the patient in regular cardiological follow-up and if indicated to initiate prophylactic therapy to prevent further SCD. This current issue on hereditary cardio(myo)pathy will cover the main topics on familial diseases. In addition the role of molecular autopsy and molecular genetic screening is discussed.

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All authors declare that they have no conflicts of interest.

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Authors and Affiliations

  1. 1st Department of Medicine-Cardiology, University Medical Centre Mannheim, Theodor-Kutzer-Ufer 1–3, 68167, Mannheim, Deutschland

    Rainer Schimpf & Martin Borggrefe M.D.

  2. Institute of Forensic & Traffic Medicine Heidelberg, Heidelberg University Hospital, Voßstraße 2, 69115, Heidelberg, Deutschland

    Katrin Yen M.D.

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  1. Rainer Schimpf
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  2. Katrin Yen M.D.
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  3. Martin Borggrefe M.D.
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Correspondence to Rainer Schimpf.

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Schimpf, R., Yen, K. & Borggrefe, M. Plötzlicher Herztod junger Patienten. Herzschr Elektrophys 23, 149–160 (2012). https://doi.org/10.1007/s00399-012-0228-4

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