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 Sol ventrikül hipertrofisi ve korunmuş ejeksiyon fraksiyonlu kalp yetersizliğinin sıklıkla atlanan ve nadir bir nedeni olan doğal (wild type) transtiretine bağlı kardiyak amiloidoz olgusu

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

Turk Kardiyoloji Dernegi Arsivi, vol.49, no.7, pp.579-584, 2021 (ESCI) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49 Issue: 7
  • Publication Date: 2021
  • Doi Number: 10.5543/tkda.2021.09310
  • Journal Name: Turk Kardiyoloji Dernegi Arsivi
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Central & Eastern European Academic Source (CEEAS), EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.579-584
  • Keywords: Transthyretin, heart failure, left ventricular hypertrophy, AMYLOIDOSIS, DIAGNOSIS
  • Eskisehir Osmangazi University Affiliated: Yes

Abstract

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.