Bassareo Pier Paolo, Duignan Sophie, James Adam, Dunne Esme, McMahon Colin J, Walsh Kevin P
University College of Dublin, School of Medicine and Department of Cardiology at Mater Misericordiae University Hospital, Dublin D07 R2WY, Ireland.
Department of Cardiology, Children's Health Crumlin, Dublin D12 N512, Ireland.
World J Clin Cases. 2023 Aug 16;11(23):5494-5503. doi: 10.12998/wjcc.v11.i23.5494.
Isolated left ventricular apical hypoplasia (ILVAH), also known as truncated left ventricle (LV), is a very unusual cardiomyopathy. It is characterised by a truncated, spherical, and non-apex forming LV. The true apex is occupied by the right ventricle. Due to the rarity of the disease, just a few case reports and limited case series have been published in the field.
To analysing the so far 37 reported ILVAH cases worldwide.
The electronic databases PubMed and Scopus were investigated from their establishment up to December 13, 2022.
The majority of cases reported occurred in males (52.7%). Mean age at diagnosis was 26.1 ± 19.6 years. More than a third of the patients were asymptomatic (35.1%). The most usual clinical presentation was breathlessness (40.5%). The most commonly detected electrocardiogram changes were T wave abnormalities (29.7%) and right axis deviation with poor R wave progression (24.3%). Atrial fibrillation/flutter was detected in 24.3%. Echocardiography was performed in 97.3% of cases and cardiac MRI in 91.9% of cases. Ejection fraction was reduced in more than a half of patients (56.7%). An associated congenital heart disease was found in 16.2%. Heart failure therapy was administered in 35.1% of patients. The outcome was favorable in the vast majority of patients, with just one death.
ILVAH is a multifaceted entity with a so far unpredictable course, ranging from benign until the elderly to sudden death during adolescence.
孤立性左心室心尖发育不全（ILVAH），也称为左心室截断（LV），是一种非常罕见的心肌病。其特征是左心室呈截断状、球形且无心尖形成。真正的心尖被右心室占据。由于该疾病罕见，该领域仅发表了少数病例报告和有限的病例系列。
分析全球迄今报道的37例ILVAH病例。
检索电子数据库PubMed和Scopus，检索时间范围从建库至2022年12月13日。
报告的病例大多数为男性（52.7%）。诊断时的平均年龄为26.1±19.6岁。超过三分之一的患者无症状（35.1%）。最常见的临床表现是呼吸困难（40.5%）。最常检测到的心电图改变是T波异常（29.7%）和右轴偏移伴R波进展不良（24.3%）。24.3%的患者检测到心房颤动/扑动。97.3%的病例进行了超声心动图检查。91.9%的病例进行了心脏磁共振成像检查。超过一半的患者射血分数降低（56.7%）。16.2%的患者发现合并先天性心脏病。35.1%的患者接受了心力衰竭治疗。绝大多数患者预后良好，仅有1例死亡。
ILVAH是一个多方面的实体，其病程迄今为止不可预测，从良性到老年，再到青春期猝死。
