Apical Hypoplasia Research Articles

"NASCI case of the month: left ventricular apical hypoplasia".

Left ventricular apical hypoplasia is a rare congenital condition. It can cause nonspecific symptoms and can be accompanied by cardiac conduction system alterations such as bundle branch block, atrial flutter (AF) or atrial fibrillation. The diagnosis mostly is made by imaging.

Isolated left ventricular apical hypoplasia: Systematic review and analysis of the 37 cases reported so far.

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.

Biventricular isolated apical hypoplasia: First-time description of a new cardiac abnormality by multimodality imaging

Left ventricular isolated hypoplasia is a seldom-described cardiac abnormality. Right ventricular hypoplasia is usually associated with congenital anomalies of the pulmonary or the tricuspid valve, whereas biventricular isolated apical hypoplasia has never been described. We report the case of a 48-year-old man with no history of known cardiac disease who was found to have a complex cardiac abnormality characterized by: 1) Deficiency of the myocardium within the biventricular apex with adipose tissue infiltration; 2) Truncated right ventricle because of an absent trabecular portion of the inflow tract; 3) Truncated and spherical left ventricular apex; 4) Origin of the mitral papillary muscle in the flattened anterior left ventricular apex. Multimodality imaging was performed to delineate the morphological and functional characteristics of this cardiomyopathy fully. To the best of our knowledge, this is the first description of a new cardiac abnormality characterized by the hypoplasia of the apical region of both ventricles in the absence of valvular or coronary artery disease.

Apical Hypoplasia of the Left Ventricle A Very Rare Congenital Heart Disease

Background: Apical hypoplasia of the left ventricle it is characterized by a spherical truncated left ventricle, with some degree of systolic and/or diastolic dysfunction, an elongated right ventricle, which surrounds the distal left ventricle, adipose tissue can be found infiltrating the apex of the left ventricle (LV)

Nkx2-5 Loss of Function in the His-Purkinje System Hampers Its Maturation and Leads to Mechanical Dysfunction.

The ventricular conduction or His-Purkinje system (VCS) mediates the rapid propagation and precise delivery of electrical activity essential for the synchronization of heartbeats. Mutations in the transcription factor Nkx2-5 have been implicated in a high prevalence of developing ventricular conduction defects or arrhythmias with age. Nkx2-5 heterozygous mutant mice reproduce human phenotypes associated with a hypoplastic His-Purkinje system resulting from defective patterning of the Purkinje fiber network during development. Here, we investigated the role of Nkx2-5 in the mature VCS and the consequences of its loss on cardiac function. Neonatal deletion of Nkx2-5 in the VCS using a Cx40-CreERT2 mouse line provoked apical hypoplasia and maturation defects of the Purkinje fiber network. Genetic tracing analysis demonstrated that neonatal Cx40-positive cells fail to maintain a conductive phenotype after Nkx2-5 deletion. Moreover, we observed a progressive loss of expression of fast-conduction markers in persistent Purkinje fibers. Consequently, Nkx2-5-deleted mice developed conduction defects with progressively reduced QRS amplitude and RSR' complex associated with higher duration. Cardiac function recorded by MRI revealed a reduction in the ejection fraction in the absence of morphological changes. With age, these mice develop a ventricular diastolic dysfunction associated with dyssynchrony and wall-motion abnormalities without indication of fibrosis. These results highlight the requirement of postnatal expression of Nkx2-5 in the maturation and maintenance of a functional Purkinje fiber network to preserve contraction synchrony and cardiac function.

Isolated Left Ventricular Apical Hypoplasia: A Very Rare Congenital Anomaly Characterized by Multimodality Imaging and Invasive Testing.

HomeCirculation: Cardiovascular ImagingAhead of PrintIsolated Left Ventricular Apical Hypoplasia: A Very Rare Congenital Anomaly Characterized by Multimodality Imaging and Invasive Testing No AccessResearch ArticleRequest AccessAboutView PDFSections ToolsAdd to favoritesDownload citationsTrack citationsPermissionsDownload Articles + Supplements ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toSupplementary MaterialsNo AccessResearch ArticleRequest AccessIsolated Left Ventricular Apical Hypoplasia: A Very Rare Congenital Anomaly Characterized by Multimodality Imaging and Invasive Testing Samuel D. Maidman, MD, William D. Salerno, MD, Dan G. Halpern, MD, Robert Donnino, MD and Muhamed Saric, MD, PhD Samuel D. MaidmanSamuel D. Maidman https://orcid.org/0000-0002-1376-5526 Leon H. Charney Division of Cardiology, NYU Grossman School of Medicine, NYU Langone Health. (S.D.M., D.G.H., R.D., M.S.) Search for more papers by this author , William D. SalernoWilliam D. Salerno Division of Cardiology, Hackensack University Medical Center, Hackensack Meridian School of Medicine, NJ (W.D.S.). Search for more papers by this author , Dan G. HalpernDan G. Halpern https://orcid.org/0000-0002-1656-798X Leon H. Charney Division of Cardiology, NYU Grossman School of Medicine, NYU Langone Health. (S.D.M., D.G.H., R.D., M.S.) Search for more papers by this author , Robert DonninoRobert Donnino Leon H. Charney Division of Cardiology, NYU Grossman School of Medicine, NYU Langone Health. (S.D.M., D.G.H., R.D., M.S.) Department of Radiology, NYU Grossman School of Medicine, NYU Langone Health. (R.D.) Division of Cardiology, Veteran Affairs NY Harbor Medical Center, Manhattan Campus (R.D.). Search for more papers by this author and Muhamed SaricMuhamed Saric Correspondence to: Muhamed Saric, MD, PhD, Adult Echocardiography Laboratory, 550 First Ave, New York, NY 10016. Email E-mail Address: [email protected] https://orcid.org/0000-0001-7682-3749 Leon H. Charney Division of Cardiology, NYU Grossman School of Medicine, NYU Langone Health. (S.D.M., D.G.H., R.D., M.S.) Search for more papers by this author Originally published30 Nov 2022https://doi.org/10.1161/CIRCIMAGING.122.014789Circulation: Cardiovascular Imaging. 2022;0:e014789FootnotesSupplemental Material is available at https://www.ahajournals.org/doi/suppl/10.1161/CIRCIMAGING.122.014789.For Sources of Funding and Disclosures, see page XXX.Correspondence to: Muhamed Saric, MD, PhD, Adult Echocardiography Laboratory, 550 First Ave, New York, NY 10016. Email muhamed.[email protected]org Previous Back to top Next FiguresReferencesRelatedDetails Advertisement Article InformationMetrics © 2022 American Heart Association, Inc.https://doi.org/10.1161/CIRCIMAGING.122.014789PMID: 36448445 Originally publishedNovember 30, 2022 Keywordscongenitalisolated left ventricular apical hypoplasiamultimodality imagingPDF download Advertisement SubjectsCongenital Heart DiseaseImaging

Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation

Abstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with isolated left ventricular apical hypoplasia and arthrogriposis but with no mutations in the entire Lamin A/C gene. Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene [...]

Isolated Right Ventricular Apical Hypoplasia: A Case Report with 18 Years of Follow Up

Isolated Right Ventricular Apical Hypoplasia: A Case Report with 18 Years of Follow Up

An Unexpected Case of Isolated Left Ventricular Apical Hypoplasia in an Asymptomatic Patient

Isolated left ventricular (LV) apical hypoplasia is a rare type of congenital heart disease. It is often asymptomatic in childhood but may lead to complications later on in life. The proposed mechanism is inadequate LV dilatation during development of the primitive ventricle, resulting in a spherical LV. To our knowledge, we describe for the first time a case of isolated LV apical hypoplasia in an asymptomatic patient, diagnosed on investigation of an abnormal 12-lead resting electrocardiogram (ECG).

P1336 Sometimes the heart could appear different if seen under a magnetic resonance scanner: misdiagnosed cases of isolated left ventricle apical hypoplasia and double chambered left ventricle

Abstract Introduction Congenital heart diseases (CHD) are detected in 1% of children, often usually the first year of life; however, many defects are diagnosed later or remain undiagnosed. Both congenital and acquired disorders could affect the left ventricle (LV). First-line assessment includes echocardiography; nonetheless, because of intrinsic or technical limitations and artefacts, further investigation may be required. Cardiac Magnetic Resonance (CMR) is capable of providing anatomical and functional information without many of limitations and drawbacks of echocardiography. We describe CMR findings of misdiagnosed cases of two rare congenital LV abnormalities: isolated LV apical hypoplasia (ILVAH) and double-chambered LV (DCLV). Case report 1 (image A,B,D) An 18 yrs girl diagnosed with dilated cardiomyopathy (DCM) was submitted to our CMR Lab for a functional assessment. After birth, deep Q waves in the inferior leads were noted on the ecg, and an echocardiographic examination showed a dilated and hypokinetic LV. At 1 year of age, she underwent cardiac catheterization that excluded coronary arteries anomalies and confirmed a reduced LV systolic function. A diagnosis of idiopathic DCM was formulated and she was initiated with anticongestive therapy. During the follow-up she felt well with normal exercise tolerance, longitudinal echocardiography did not show any substantial modification over the years. In 2018, a CMR study was performed. Surprisingly, the cardiac apex was formed exclusively by the right ventricle, wrapped around the LV. The LV appeared spherical and truncated inferiorly, and the apical portion was missing; LV volumes and ejection fraction were normal; regional akinesia and subendocardial late gadolinium enhancement (LGE) were evident at the inferior wall. These findings were consistent of ILVAH. Case Report 2 (image C,E,F) A 24 yrs old boy with prenatal diagnosis of LV diverticulum came to our observation for a CMR study. He was asymptomatic, particularly, no palpitations or syncope were referred, nor arrhythmias were detected during the follow-up; exercise tolerance was normal. CMR showed a coarse muscle band in the LV cavity, extending from the apex to the posterior papillary muscle, thus delimiting a contractile accessory chamber. LV volumes and global systolic function were normal. The LV accessory chamber presented a normal structured free lateral wall with a normal systolic thikening, except at the apical infero-lateral segment where it appeared thinned and akinetic and showed LGE with a subendocardial pattern. These findings were consistent of DCLV. Conclusions the LV could be affected by many diseases with different etiological, clinical and morphological features. Compared to other imaging diagnostic modalities, CMR allows better definition of LV morphology, function and tissue characterization, becoming essential for LV abnormalities diagnosis and follow-up. Abstract P1336 Figure.

P1499 A case of missing left ventricular apex

Abstract Introduction Isolated left ventricle (LV) apical hypoplasia is a rare congenital anomaly. Echocardiographic diagnosis is challenging if one is not aware of this condition. It can masquerade as LV non-compaction or apical aneurysm. Multimodality imaging with cardiac magnetic resonance (CMR) can be useful to secure the diagnosis. Case description An asymptomatic 18-year-old man, with no significant personal or family medical history, was referred to cardiology clinic due to abnormal electrocardiogram (ECG) during routine cardiac screening. ECG showed right axis deviation and delayed precordial QRS-transition. He had excellent effort tolerance during treadmill exercise test (standard Bruce Protocol stage 6). Ambulatory ECG monitoring was within normal limits. Transthoracic echocardiogram showed a truncated appearance of LV apex with increased apical trabeculation, and bulging right ventricle apex (see image A and B). LV ejection fraction was preserved. The LV appearance was initially thought to be due to foreshortened apical view. A diagnosis of LV non-compaction cardiomyopathy was also inaccurately considered. He was further evaluated with CMR imaging. The study showed a truncated LV apex and apical insertion of the papillary muscles. RV apex was seen wrapping around the LV (see image C and D). Both the LV and RV function were normal. There was no late gadolinium enhancement (LGE). The morphological abnormalities were consistent with the diagnosis of isolated LV apical hypoplasia. Patient continued to be physically active and asymptomatic. Follow up CMR five years later showed similar findings of preserved biventricular functions and no fibrosis on LGE imaging. Discussion We described a rare case of isolated LV apical hypoplasia with longitudinal clinical and cardiac imaging follow up. Initial diagnosis from transthoracic echocardiogram was elusive, and supportive findings from CMR helped to secure the diagnosis. In the literature, the clinical presentation ranges from chest pain syndrome, arrhythmias, heart failure or as incidental finding during cardiac imaging, as in our case. It is commonly diagnosed as nonspecific cardiomyopathy when the clinician is not aware of this condition. Being a rare congenital anomaly, the prognosis is not well established. Our patient remained asymptomatic clinically with preserved biventricular function in his 5 years follow-up. Abstract P1499 Figure. Echo and CMR imaging

The results of surgical treatment of a patient with isolated left ventricular apical hypoplasia and left ventricular noncompaction

There is a presentation of the results of a two-year follow-up after surgical treatment of a patient with chronic heart failure and a permanent form of atrial fibrillation, in which isolated apex hypoplasia and non-compaction of left ventricular myocardium were revealed.

Isolated Right Ventricular Apical Hypoplasia Without Atrial Septal Defect

Isolated Right Ventricular Apical Hypoplasia Without Atrial Septal Defect

P92CMR characteristics as the first selection criterion for surgical treatment in patient with Isolate LV apical hypoplasia

P92CMR characteristics as the first selection criterion for surgical treatment in patient with Isolate LV apical hypoplasia

221CMR provides the answer: an incidental finding of isolated left ventricular apical hypoplasia in a young adult

221CMR provides the answer: an incidental finding of isolated left ventricular apical hypoplasia in a young adult

ISOLATED LEFT VENTRICULAR APICAL HYPOPLASIA, RARE INBORN CARDIOMYOPATHY

The review of data of literature concerning the description of clinical cases of isolated left ventricular apical hypoplasia (LVAH) in 42 patients are presented. left ventricular apical hypoplasia is characterized by 1) a spherical left ventricular with a cut-off tip and a swelling of the interventricular septum to the right in combination with systolic dysfunction of left ventricular; 2) replacement of the myocardium of the upper limb with fat tissue; 3) localization of papillary muscles on the flattened apex of the left ventricular; 4) elongated right ventricle (RV), flowing around the top of the upper left vertex. The course of this condition may be asymptomatic, or manifest as a clinic of biventricular heart failure with high pulmonary hypertension and heart rhythm disturbances.

Isolated Left Ventricular Apical Hypoplasia: A Case Report and Literature Review

Isolated left ventricular apical hypoplasia (LVAH) is a newly recognized, rare cardiomyopathy which was first described in 2004. Until now, only 20 English-language literatures in relationship with Isolated LVAH were collected from PubMed by the author of this article. We report a case of 50-year-old man by health-examination without any symptom as this patient was first diagnosed in our hospital. This article includes two parts: case report and literature review.

Cardiac Magnetic Resonance Imaging of Left Ventricular Apical Hypoplasia in Two Complex Congenital Clinical Syndromes

Cardiac Magnetic Resonance Imaging of Left Ventricular Apical Hypoplasia in Two Complex Congenital Clinical Syndromes

Clinical presentation and echocardiographic diagnosis of left ventricular apical hypoplasia

左室心尖发育不良(left ventricular apical hypoplasia,LVAH)是一种极少见的左室心肌病变,主要表现为左室心尖部缺如呈球形缩短,目前多认为属于先天性畸形.FernandezValls等[1]2004年在一篇放射学论文中首次描述了这种畸形,此后,一些磁共振、CT及超声心动图诊断的病例陆续发表,国内关于左室心尖发育不良报道极少,为促进对其更多的了解,现对此疾病作一综述.一、病理解剖学及临床LVAH的发生机制不明.人体胚胎期第3周开始心脏发育,出现原始心管,进而形成原始心腔.胚胎期第5周,肌性室间隔形成,原始心室开始左右分侧.本病可能系原始心室左右分侧时左室发育不充分,随着肌性室间隔的持续生长,正常发育的右室相对延长环绕缩短的左室心尖,导致本病形成n]。

Left ventricular apical hypoplasia: a case series and review of the literature

Left ventricular apical hypoplasia (LVAH) is a rare and newly characterized cardiomyopathy. No systemic and detailed case series were reported earlier. We report fi ve patients diagnosed with left ventricular apical hypoplasia at our institute from 2004 to 2011. All the cases underwent clinical examination, eletrocardiography, chest X-ray, transthoracic echocardiography (TTE), and cardiac magnetic resonance imaging (CMRI). We described the clinical presentations, summarized the imaging characteristics of LV apical hypoplasia, and described the associated cardiac malformations. LVAH is characterized by a truncated, spherical left ventricle, without a normal apex; the true apex is occupied by the right ventricle. In addition, the atrioventricular valve anomalies, LV papillary muscle displacement, interventricular and/or interatrial septal bulge aneurysms and patent ductus arteriosus structures coexisted in these patients. LV apical hypoplasia has distinct appearances that can be easily identifi ed on TTE and CMRI. TTE also could accurately defi ne the associated cardiac abnormalities.