Mattia Pasquinucci, Martina Avesani, Anna La Rosa, Maria Elena Derchi, Davide Meneghesso, Davide Buffi, Federico Prefumo, Laura Tralli, Michela Marchesini, Anna Nocerino, Alessandra Grison, Claudia Santagati, Giulia Bordin, Gabriele De Tonetti, Elena Sofia Milandri, Giovanni Di Salvo, Gianluca Trocchio
IRCCS Istituto Giannina Gaslini. AULSS 7 Pedemontana-San Bassiano Hospital. Padua University Hospital. AULSS 8 Berica-San Bortolo Hospital. Santa Maria Delle Croci Hospital.
Italy
Children
Children 2026; 13:
DOI: 10.3390/children13080983
Abstract
Background/Objectives: Isolated Left Ventricular Apical Hypoplasia (ILVAH) is a rare congenital anomaly characterized by a truncated, spherical left ventricle (LV) with fibro-fatty apical replacement. Historically considered a benign condition of asymptomatic adults, its hemodynamic behavior under physiological stress remains poorly characterized. We present two distinct cases and a comprehensive literature review (n = 59) to redefine the clinical spectrum of ILVAH.
Methods: To contextualize our findings, a comprehensive review of the literature was performed up to February 2026. We searched the PubMed/MEDLINE database using the terms “Isolated Left Ventricular Apical Hypoplasia”, “ILVAH”, “truncated left ventricle”, and “left ventricular apical hypoplasia”. The literature search and study selection were conducted in accordance with the PRISMA guidelines.
Case presentations: Case 1 describes a male infant with ILVAH and muscular ventricular septal defects who unexpectedly developed transient systolic heart failure at one month of life, requiring prompt medical therapy (ACE inhibitors and diuretics) for functional recovery. Case 2 describes a 33-year-old woman with a known diagnosis of ILVAH. Serial echocardiography during her first pregnancy revealed progressive left atrial dilation and the onset of mild post-capillary pulmonary hypertension. Immediately following an elective cesarean section at 37 weeks, she experienced acute heart failure. She was successfully managed with pre-emptive volume offloading.
Conclusions: ILVAH is not a universally benign anomaly. The morphologically deficient and rigid ventricle is vulnerable to afterload shifts in infancy and rapid volume expansion in adulthood. A review of all previously reported pregnancies in ILVAH reveals a consistent pattern of severe, unrecognized postpartum pulmonary edema. Proactive, multidisciplinary management is suggested to prevent clinical decompensation. Our findings suggest that ILVAH may act as a stress-sensitive restrictive congenital left ventricle disease rather than a universally benign anatomical variant, a hypothesis that warrants further investigation.
Category
Class I. Pulmonary Hypertension Associated with Congenital Cardiovascular Disease
Class II. Pulmonary Hypertension Associated with Left Ventricular Systolic or Diastolic Dysfunction
Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes