A proposed strategy for anticoagulation therapy in noncompaction cardiomyopathy

Abstract

Noncompaction cardiomyopathy (NCCM) is a rare condition characterized by prominent trabeculae, deep intertrabecular recesses, and a left ventricular myocardium with a two-layered structure, characterized by a spongy endocardial layer and a thinner and compacted epicardial one. NCCM can be isolated or associated with other congenital heart diseases and complex syndromes involving neuromuscular disorders and facial dysmorphisms. To date, more than 40 genes coding for sarcomeric, cytoskeletal, ion channels, and desmosomal proteins have been identified. Clinical presentation is also highly variable, ranging from no symptoms to end-stage heart failure (HF), lethal arrhythmias, sudden cardiac death, or thromboembolic events. In particular, the prevalence of thromboembolism in NCCM patients appears to be higher than that of a similar, age-matched population without NCCM. Thromboembolism has a multifactorial aetiology, which is linked to genetic, as well as traditional cardiovascular risk factors. In previous studies, atrial fibrillation (AF) was observed in approximately 25-30% of adult NCCM patients and embolism had a cardiac source in ~63-69% of cases; therefore, AF represents a strong predictor of adverse events, especially if associated to HF and neuromuscular disorders. Left ventricular dysfunction is another risk factor for thromboembolism, as a result of blood stagnation and local myocardial injury. Moreover, it is not completely clarified if the presence of deep intertrabecular recesses causing stagnant blood flow can constitute per se a thrombogenic substrate even in absence of ventricular dysfunction. For the clinical management of NCCM patients, an appropriate stratification of the thromboembolic risk is of utmost importance for a timely initiation of anticoagulant therapy. The aim of the present study is to review the available literature on NCCM with particular attention on thromboembolic risk stratification and prevention and the current evidence for oral anticoagulation therapy. The use of direct oral anticoagulants vs. vitamin K antagonists is also discussed with important implications for patient treatment and prognosis.

Ventricular Noncompaction With Left Ventricular Thrombus: A Case Report

“…Noncompaction cardiomyopathy (NCC) is rare genetic cardiomyopathy [ 2 ] first described in 1932 and characterized by excess trabeculae in the endocardium, affecting one or both ventricles [ 2 , 5 - 6 ]. Prevalence estimates range from 0.01% to 0.27% among patients who were referred for an echocardiogram for other workups [ 2 , 5 ]. In reference to the entire population, estimates range from 0.014% to 1.3%, with males affected more than females.…”

“…The mechanism of NCC is thought to be due to a failure of “compaction” of the myocardium during embryogenesis [ 5 ]. The diagnosis is established most commonly via transthoracic echocardiogram and cardiac magnetic resonance imaging [ 2 ], with echocardiogram showing a ratio of greater than 2.0 between the end-systolic thickness of the compacted vs noncompacted tissue [ 7 ]. Recent reports indicate high sensitivity and specificity using a ratio of >2.3 [ 7 ].…”

“…Noncompaction cardiomyopathy (NCC), previously regarded as “spongy myocardium,” is a rare genetic disorder with features of prominent ventricular trabeculations and deep inter-trabecular recesses in either one or both ventricles [ 1 ]. Due to its rarity, its prevalence is dependent on reported echocardiographic cases, estimated at between 0.05% and 0.27% [ 2 ]. Furthermore, the frequency of thromboembolism in this cohort is ≤38%, and it is more often reported in men [ 2 ].…”

“…Due to its rarity, its prevalence is dependent on reported echocardiographic cases, estimated at between 0.05% and 0.27% [ 2 ]. Furthermore, the frequency of thromboembolism in this cohort is ≤38%, and it is more often reported in men [ 2 ]. The variable clinical presentations include palpitations, chest pain, shortness of breath, cerebrovascular accidents, and sudden cardiac death.…”

Five Years of Direct Oral Anticoagulants Use in Italy: Adverse Drug Reactions from the Italian National Pharmacovigilance Network

“…Although DOACs showed superiority relative to VKAs in large phase III RCTs and demonstrated to be non-inferior in terms of safety, phase IV prospective observational trials aimed at verifying the safety of drugs after being placed on the market and other real-life observational studies confirmed the safety of DOACs in a daily practice setting, also fueling the progressive expansion of DOACs indication in the subgroup of patients excluded from RCTs, such as cancer patients and end-stage renal disease patients [ 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 ]. The XANTUS program was a prospective, observational, noninterventional study evaluating the safety of rivaroxaban used for stroke prevention in 11.121 patients with AF [ 25 ].…”