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

BACKGROUND: 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. CASE SUMMARY: 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. CONCLUSIONS: 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.

Ablation Therapy for Persistent Atrial Fibrillation.

Atrial Fibrillation (AF) is the most common form of electrical disturbance of the heart and contributes to significant patient morbidity and mortality. With a better understanding of the mechanisms of atrial fibrillation and improvements in mapping and ablation technologies, ablation has become a preferred therapy for patients with symptomatic AF. Pulmonary Vein Isolation (PVI) is the cornerstone for AF ablation therapy, but particularly in patients with AF occurring for longer than 7 days (persistent AF), identifying clinically significant nonpulmonary vein targets and achieving durability of ablation lesions remains an important challenge.