Clinical Status and Outcome of Isolated Right Ventricular Hypoplasia: A Systematic Review and Pooled Analysis of Case Reports

Abstract

BackgroundIsolated right ventricular hypoplasia (IRVH), not associated with severe pulmonary or tricuspid valve malformation, is a rare congenital myocardial disease. This study aims to evaluate the clinical status and outcome of IRVH.MethodsA systematic search of keywords on IRVH was conducted. Studies were searched from MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, and Igaku Chuo Zasshi (Ichushi) published between January 1950 and August 2021.ResultsThirty studies met the inclusion criteria. All of these studies were case reports and included 54 patients (25 males and 29 females). The median age of the patients was 2.5 years old (0–15.3 years). Of the 54 patients, 13 (24.1%) reported a family history of cardiomyopathy. Moreover, 50 (92.6%), 19 (35.2%), and 17 (31.5%) patients were diagnosed with cyanosis, finger clubbing, and dyspnea, respectively. Furthermore, 53 (98.2%) patients had a patent foramen ovale or an atrial septal defect (ASD). Z-score of the tricuspid valve diameter on echocardiogram was −2.16 ± 1.53, concomitant with small right ventricular end-diastolic volume. In addition, 29 (53.7%), 21 (38.9%), 7 (13.0%), and 2 (3.7%) patients underwent surgery, ASD closure, Glenn operation, and one and a half ventricular repair, respectively. Among them, nine (20.4%) patients expired, and the multivariable logistic regression analysis showed that infancy, heart failure, and higher right ventricular end-diastolic pressure were risk factors for death.ConclusionsIRVH was diagnosed early in children with cyanosis and was associated with high mortality. This systematic review and pooled analysis provided evidence to assess the of IRVH degree in order to evaluate the clinical status and outcome of IRVH.

Isolated hypoplastic right ventricle – a challenge in medical practice

“…Although the transition from angiography to echocardiography or MRI is noticeable the combining multimodalities to assess isolated RVH hemodynamics and morphology may be important in the diagnosis and therapeutic management of each patient [15].…”

Percutaneous Modified Blalock–Taussig Shunt Closure in a Patient with Isolated Right Ventricular Hypoplasia

“…Isolated right ventricular (RV) hypoplasia (IRVH) was first described in 1950 by Cooley et al [1]. IRVH is characterized by an underdeveloped RV with a small cavity, without severe pulmonary or tricuspid valvar malformations or ventricular septal defects (VSDs) [2]. This congenital heart disease results from a trabecular sinus portion development failure which is absent or marked as attenuated [3].…”

“…This congenital heart disease results from a trabecular sinus portion development failure which is absent or marked as attenuated [3]. Due to IRVH, the tricuspid valve may be small or obstructive [2,3]. An associated atrial septal defect (ASD) or a patent foramen ovale (PFO) could persist and represent an escape valve, resulting in cyanosis.…”

“…An associated atrial septal defect (ASD) or a patent foramen ovale (PFO) could persist and represent an escape valve, resulting in cyanosis. The clinical presentation depends on the degree of RV hypoplasia, interatrial communication size, and persistent pulmonary hypertension, and it has a broad outcome spectrum, from death in early infancy to mild cyanosis [2][3][4].…”

“…The natural history of this abnormality Is mostly relatively benign, with spontaneous RV and pulmonary circulation recovery. On the other hand, the data in the literature 2 of 9 highlight the necessity of surgical treatment-ASD closure, systemic-pulmonary shunt (SPS), Glenn anastomosis, one-and-a-half repair, and Fontan circulation [2][3][4][5][6].…”