Wild type transthyretin cardiac amiloidozis as a rare and overlooked underlying etiology in a patient with heart failure with preserved ejection fraction and left ventricular hypertrophy.

Murat S., Çavuşoğlu Y., Ak Sivrikoz İ.

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir, cilt.49, sa.7, ss.579-584, 2021 (ESCI) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 49 Sayı: 7
  • Basım Tarihi: 2021
  • Doi Numarası: 10.5543/tkda.2021.09310
  • Dergi Adı: Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Central & Eastern European Academic Source (CEEAS), EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.579-584
  • Anahtar Kelimeler: Transthyretin, heart failure, left ventricular hypertrophy, AMYLOIDOSIS, DIAGNOSIS
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Cardiac amyloidosis (CA) is a rare, progressive, infiltrative and restrictive cardiomyopathy characterized by extracellular deposition of insoluble amyloid fibrils in the form of misfolded endogenous proteins in the heart. The most common types of CA are transthyretin (TTR) and immunoglobulin light chain (AL) amyloidosis. TTR-CA is further subdivided into wild-type (wtTTR-CA) and mutant (mTTR-CA) forms. CA has long been thought to be a rare disease. However, in clinical practice, it is frequently overlooked, but increasingly recognized as the cause of heart failure with preserved ejection fraction (HFpEF). Patients with CA show poor prognosis. Early diagnosis and novel therapeutic options have been shown to significantly improve prognosis. Novel diagnostic modalities such as nuclear scintigraphy allow the earlier diagnosis of TTR-CA without a biopsy. In this report, we present a case of wtTTR-CA as a rare and overlooked underlying etiology of HFpEF and left ventricular hypertrophy.