Ventricular arrhythmia burden and implantable cardioverter-defibrillator outcomes in transthyretin cardiac amyloidosis.

BACKGROUND: As targeted treatments for amyloid transthyretin cardiomyopathy (ATTR-CM) are becoming available, we aim to characterize the rates of ventricular arrhythmias (VAs), implantable cardioverter-defibrillator (ICD) utilization, and their impact on survival. METHODS: This is a retrospective cohort study of 130 patients with ATTR-CM diagnosed at Emory University's Cardiac Amyloidosis Center between April 2012 and September 2020. VAs were defined as nonsustained or sustained ventricular tachycardia and ventricular fibrillation. RESULTS: Of 130 patients, 42 had wild-type disease (wtATTR) and 88 had hereditary variants (hATTR), most commonly Val122Ile (89%). At ATTR-CM diagnosis, 80 (62%) patients had EF ≤ 40% consistent with systolic heart failure. Of the 69 (53%) patients with documented VAs significantly higher rates occurred among those with EF ≤ 40% compared with EF > 40% (67% vs. 28%, p = .001). Thirty-two patients (25 hATTR, 7 wtATTR) had primary prevention ICDs implanted. Eight (25%) of these patients received appropriate ICD therapy while two (6%) experienced inappropriate therapy. Comparing patients with EF ≤ 35% with and without ICDs did not reveal any survival difference (3.3 ± 0.5 vs. 2.8 ± 0.4 years, p = .699). CONCLUSIONS: High rates of VAs and appropriate ICD therapy were found among a unique cohort of largely hereditary ATTR-CM patients with a high rate of systolic heart failure.

Non-alcoholic Fatty Liver Disease Causing Platypnea-Orthodeoxia Syndrome.

Non-alcoholic fatty liver disease (NAFLD) with cryptogenic liver cirrhosis is uncommonly linked to platypnea-orthodeoxia syndrome (POS). Traditionally, this syndrome has been described in correlation to intracardiac shunting like patent foramen ovale.  We report a case of a 70-year-old female, with a previous history of NAFLD and heart failure presenting with acute hypoxic respiratory failure secondary to fluid overload. Further investigations revealed cryptogenic presentation of POS, which was masked by her heart failure. The patient was not able to maintain her oxygen saturation levels in an upright position, with marked improvement when lying down. Her echocardiogram was significant for positive bubble study without any intracardiac shunt, hence making NAFLD as a cause of this rare presentation of POS a more likely diagnosis.