Cardiac Amyloidosis: A Rare TTR Mutation Found in an Asian Female

Transthyretin cardiac amyloidosis (ATTR) is a life-threatening, debilitating disease caused by abnormal formation and deposit of transthyretin (TTR) protein in multiple tissues, including myocardial extracellular matrix. It can be challenging to diagnose due to the myriad of presenting signs and sym...

Full description

Saved in:
Bibliographic Details
Published in:Journal of cardiovascular development and disease 2023-01, Vol.10 (1), p.13
Main Authors: Mouksian, Kristina, Ammon, Jessica, Pullen, Drenda, Zhang, Qiuhua, Yedlapati, Neeraja, Jefferies, John Lynn
Format: Article
Language:English
Subjects:
Amyloidosis
Cardiomyopathy
Case Report
Complaints
diastolic heart failure
Disease
Dysphagia
echocardiography
Family medical history
Fludrocortisone
Genetic aspects
genetic disorders
Heart failure
Hospitalization
Mutation
Nausea
Orthostatic hypotension
Ostomy
Pantoprazole
Peripheral neuropathy
Proteins
Vomiting
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Transthyretin cardiac amyloidosis (ATTR) is a life-threatening, debilitating disease caused by abnormal formation and deposit of transthyretin (TTR) protein in multiple tissues, including myocardial extracellular matrix. It can be challenging to diagnose due to the myriad of presenting signs and symptoms. Additionally, numerous TTR mutations exist in certain ethnicities. Interestingly, our patient was discovered to have a very rare Gly67Ala TTR mutation typically not found in individuals of Asian descent. Recent advances in cardiovascular imaging techniques have allowed for earlier recognition and, therefore, management of this disease. Although incurable, there are now new, emerging treatments that are available for symptom control of cardiac amyloidosis, making early diagnosis vital for these patients, specifically their quality of life. We outline a case of a 50-year-old Asian female who was initially hospitalized for nausea and vomiting and persistent orthostatic hypotension. She underwent a multitude of laboratory and imaging tests, resulting in a diagnosis of cardiac amyloidosis, which was confirmed to be due to a rare TTR mutation via genetic testing. Our objective is to describe various TTR mutations, existing diagnostic imaging modalities, and available treatments, as well as highlight the importance of early screening and awareness of cardiac amyloidosis, allowing for quicker diagnosis and treatment of this disease.
ISSN:2308-3425
2308-3425
DOI:10.3390/jcdd10010013