Der plötzliche Herztod bei familiärer hypertropher Kardiomyopathie

Zusammenfassung

Die hypertrophe Kardiomyopathie (HCM) ist eine relativ häufige, genetisch bedingte, primäre Herzmuskelerkrankung, die durch eine meist asymmetrische Septumhypertrophie mit oder ohne linksventrikuläre Ausflussbahnobstruktion charakterisiert ist. Die Erkrankung ist genetisch heterogen, zwölf krankheitsverursachende Gene wurden bisher beschrieben. Histologisch finden sich hypertrophierte Myofibrillen mit atypischen Verzweigungen (myocardial disarray) sowie eine Vermehrung des interstitiellen Bindegewebes. Zu den typischen Symptomen gehören Palpitationen, Belastungsdyspnoe und/oder Angina pectoris. Ventrikuläre Herzrhythmusstörungen und plötzliche Todesfälle treten gehäuft auf; in erster Linie sind hiervon junge Menschen betroffen.

Die vorliegende Arbeit stellt die Kriterien für die Risikostratifizierung bei HCM und deren Bewertung dar. Um von einem plötzlichen Herztod (PHT) bedrohte Patienten zu identifizieren, ist eine ausführliche klinisch-kardiologische Untersuchung notwendig, in die auch neuere bildgebende Verfahren wie beispielsweise die Magnetresonanz-Tomographie mit einbezogen werden sollten. Als Marker für ein erhöhtes PHT-Risiko gelten ein durchgemachter Herzstillstand bzw. Kammerflimmern, nicht-anhaltende und anhaltende Kammertachykardien, plötzliche Todesfälle in der Familie, ungeklärte Synkopen, eine abnorme Blutdruckreaktion unter Belastung und eine Septumdicke von ≥ 3 cm. Da manche Mutationen mit einem besonders hohen Risiko für einen plötzlichen Herztod assoziiert zu sein scheinen, wäre die Kenntnis des zugrunde liegenden genetischen Defektes wünschenswert. Leider steht die genetische Diagnostik bei HCM als Routineverfahren heute noch nicht zur Verfügung.

Therapie der Wahl bei dokumentierten lebensbedrohlichen Arrhythmien oder überlebtem PHT ist der implantierbare Kardioverter/Defibrillator (ICD), der auch im Rahmen der Primärprophylaxe eingesetzt wird, wenn die Risikostratifizierung positiv ausfällt. Hierfür stehen Algorithmen und Scores zur Verfügung. Der Entschluss zur prophylaktischen Implantation eines Kardioverters/Defibrillators bleibt aber immer eine individuelle Entscheidung.

Hypertrophic cardiomyopathy (HCM) is a relatively frequent, genetically determined primary cardiomyopathy, characterized by most often asymmetric hypertrophy of the ventricular septum with or without systolic obstruction of the left ventricular outflow tract. HCM is a genetically heterogeneous disease, with 12 different disease-causing genes beeing indentified to date. Histologically the disease is characterized by hypertophy and disarray of myofibrils as well as by an increase in myocardial fibrosis. Clinically, these changes may lead to palpitations, dyspnoe on exertion, and/or angina pectoris. However, they also lead to an increased propensity to the development of severe ventricular tachyarrhythmias and sudden cardiac death. The incidence of sudden death is significantly increased in HCM, particularly in affected young subjects. Risk stratification in HCM should include a complete clinical-cardiological evaluation that should also consider new diagnostic features, e. g. MR imaging. Major risk factors for sudden cardiac death include a survived cardiac arrest (ventricular fibrillation), non-sustained and sustained ventricular tachycardia, a history of premature familial sudden death, unexplained syncope, an abnormal blood pressure response on exercise, and left ventricular thickness greater than or equal to 3 cm. Ideally, risk stratification should also include genetic testing, since some gene mutations seem to be associated with a higher risk for sudden cardiac death than others. However, genetic testing in HCM in not yet available on a routine basis. The implantation of a cardioverter/defibrillator is first-line therapy in patients with documented ventricular tachycardia/fibrillation or patients who have survived sudden cardiac death. These devices also play an important role in the primary prevention of sudden cardiac death in HCM. Algorithms and scores are available to estimate the risk of sudden death, however, the decision to implant a cardioverter/defibrillator remains an individual decision in every single patient.

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