Korunmuş Ejeksiyon Fraksiyonlu Kalp Yetersizliği Fenotipinde Hızlı Atriyal Fibrilasyon İle Başvuran Hastada Hipertrofik Kardiyomiyopatiye Uzanan Tanısal Süreç
Özet
Hipertrofik kardiyomiyopati (HKMP), anormal yüklenme koşullarıyla tek başına açıklanamayan, sol ventrikül duvar kalınlığında veya kütlesinde artışın varlığı olarak tanımlanır. Klinik tabloda asemptomatik seyirden ileri kalp yetersizliğine, atriyal fibrilasyon (AF) ve ani kardiyak ölüme kadar geniş bir yelpaze izlenebilir. Bu olguda, hızlı ventrikül yanıtlı AF kliniği ile tarafımıza başvuran ve ekokardiyografide korunmuş ejeksiyon fraksiyonu (EF %50) ile birlikte belirgin sol ventrikül hipertrofisi (SVH) ve biatriyal dilatasyon saptanan 52 yaşında kadın hasta sunulmaktadır. Hastada ilk değerlendirmede korunmuş ejeksiyon fraksiyonlu kalp yetersizliği (KEF-KY) fenotipi düşünülmüş, ileri tetkikler sonucunda altta yatan neden olarak HKMP tanısına ulaşılmıştır. Transözofageal ekokardiyografide (TEE) sol atriyumda trombüs saptanması nedeniyle elektriksel kardiyoversiyon uygulanamamış, hastaya oral antikoagülan tedavi başlanmış ve kalp yetersizliği tedavisi optimize edilmiştir. Yapılan genetik incelemede MYBPC3 geninde homozigot olası patojenik varyant saptanarak tanı moleküler düzeyde de doğrulanmıştır. Bu olgu, KEF-KY fenotipi ile başvuran ve eşlik eden SVH bulunan hastalarda HKMP başta olmak üzere altta yatan spesifik nedenlerin sorgulanmasının önemini vurgulamak amacıyla tanı algoritması eşliğinde tartışılmıştır.
Hypertrophic cardiomyopathy (HCM) is defined as the presence of increased left ventricular wall thickness or mass that cannot be explained solely by abnormal loading conditions. The clinical presentation ranges widely, from an asymptomatic course to advanced heart failure, atrial fibrillation (AF), and sudden cardiac death. In this case, we present a 52-year-old female patient who presented with rapid ventricular response AF and was found on echocardiography to have preserved ejection fraction (EF 50%) along with marked left ventricular hypertrophy (LVH) and biatrial dilatation. On initial evaluation, heart failure with preserved ejection fraction (HFpEF) phenotype was considered; however, further investigations led to a diagnosis of underlying HCM. Electrical cardioversion could not be performed due to the detection of a left atrial thrombus on transesophageal echocardiography. The patient was started on oral anticoagulant therapy, and heart failure treatment was optimized. Genetic analysis revealed a homozygous likely pathogenic variant in the MYBPC3 gene, confirming the diagnosis at the molecular level. This case is discussed, alongside a diagnostic algorithm, to emphasize the importance of investigating specific underlying causes in patients presenting with an HFpEF phenotype accompanied by LVH
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