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Keywords = hypertrabeculation

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10 pages, 1568 KiB  
Article
Decreased Aortic Elasticity in Noncompaction Cardiomyopathy Compared to Dilated Cardiomyopathy
by Martijn Tukker, Sharida Mohamedhoesein, Emrah Kaya, Arend F.L. Schinkel and Kadir Caliskan
J. Cardiovasc. Dev. Dis. 2025, 12(8), 303; https://doi.org/10.3390/jcdd12080303 - 11 Aug 2025
Viewed by 156
Abstract
Abnormal aortic elasticity serves as a marker for cardiovascular mortality and has a negative impact on the left ventricular (LV) afterload. Noncompaction cardiomyopathy (NCCM) is characterized by hypertrabeculation of the LV endomyocardial wall, with an underdeveloped endocardial helix. This may result in absence [...] Read more.
Abnormal aortic elasticity serves as a marker for cardiovascular mortality and has a negative impact on the left ventricular (LV) afterload. Noncompaction cardiomyopathy (NCCM) is characterized by hypertrabeculation of the LV endomyocardial wall, with an underdeveloped endocardial helix. This may result in absence of LV twist, disturbed aortic elasticity, LV dysfunction, and ultimately premature heart failure (HF). This study compared the aortic stiffness and clinical outcome in patients with NCCM to that of a control group with dilated cardiomyopathy (DCM). Sixty NCCM patients, matched by age and sex, were compared with 60 DCM controls. Transthoracic echocardiography was performed to measure the systolic (SD) and diastolic diameters (DD) of the ascending aorta. These measurements, along with systolic (SBP) and diastolic blood pressure (DBP), were utilized to calculate the aortic stiffness index defined as ln(SBP/DBP)/[(SD-DD)/DD]. This index was then compared to clinical features and outcome. The mean age was 49 ± 16 years (55% males) in the NCCM group and 49 ± 16 years (55% male) in the DCM group. Aortic stiffness index (ASI) was significantly higher in the NCCM group than in the DCM group (7.0 [5.8–10.2] vs. 6.2 [4.8–7.7], p = 0.011). This difference remained statistically significant after adjustment for established risk factors associated with aortic stiffness (β = 1.771; 95% CI [0.253–3.289], p = 0.023). Patients with NCCM demonstrated increased aortic stiffness when compared to those with DCM, which may reflect the underlying pathophysiological processes. Additional research is necessary to evaluate the impact of aortic stiffness on the advancement of LV dysfunction, the onset of heart failure, and long-term outcomes. Full article
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14 pages, 5492 KiB  
Article
Comparison of Imaging Modalities for Left Ventricular Noncompaction Morphology
by Márton Horváth, Dorottya Kiss, István Márkusz, Márton Tokodi, Anna Réka Kiss, Zsófia Gregor, Kinga Grebur, Kristóf Farkas-Sütő, Balázs Mester, Flóra Gyulánczi, Attila Kovács, Béla Merkely, Hajnalka Vágó and Andrea Szűcs
J. Imaging 2025, 11(6), 185; https://doi.org/10.3390/jimaging11060185 - 4 Jun 2025
Viewed by 701
Abstract
Left ventricular noncompaction (LVNC) is characterized by excessive trabeculation, which may impair left ventricular function over time. While cardiac magnetic resonance imaging (CMR) is considered the gold standard for evaluating LV morphology, the optimal modality for follow-up remains uncertain. This study aimed to [...] Read more.
Left ventricular noncompaction (LVNC) is characterized by excessive trabeculation, which may impair left ventricular function over time. While cardiac magnetic resonance imaging (CMR) is considered the gold standard for evaluating LV morphology, the optimal modality for follow-up remains uncertain. This study aimed to assess the correlation and agreement among two-dimensional transthoracic echocardiography (2D_TTE), three-dimensional transthoracic echocardiography (3D_TTE), and CMR by comparing volumetric and strain parameters in LVNC patients and healthy individuals. Thirty-eight LVNC subjects with preserved ejection fraction and thirty-four healthy controls underwent all three imaging modalities. Indexed end-diastolic, end-systolic, and stroke volumes, ejection fraction, and global longitudinal and circumferential strains were evaluated using Pearson correlation and Bland–Altman analysis. In the healthy group, volumetric parameters showed strong correlation and good agreement across modalities, particularly between 3D_TTE and CMR. In contrast, agreement in the LVNC group was moderate, with lower correlation and higher percentage errors, especially for strain parameters. Functional data exhibited weak or no correlation, regardless of group. These findings suggest that while echocardiography may be suitable for volumetric follow-up in LVNC after baseline CMR, deformation parameters are not interchangeable between modalities, likely due to trabecular interference. Further studies are warranted to validate modality-specific strain assessment in hypertrabeculated hearts. Full article
(This article belongs to the Section Medical Imaging)
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11 pages, 1895 KiB  
Article
3D Echocardiographic Assessment of Right Ventricular Involvement of Left Ventricular Hypertrabecularization from a New Perspective
by Márton Horváth, Kristóf Farkas-Sütő, Flóra Klára Gyulánczi, Alexandra Fábián, Bálint Lakatos, Anna Réka Kiss, Kinga Grebur, Zsófia Gregor, Balázs Mester, Attila Kovács, Béla Merkely and Andrea Szűcs
J. Imaging 2025, 11(6), 181; https://doi.org/10.3390/jimaging11060181 - 3 Jun 2025
Viewed by 472
Abstract
Right ventricular (RV) involvement in left ventricular hypertrabeculation (LVNC) remains under investigation. Due to its complex anatomy, assessing RV function is challenging, but 3D transthoracic echocardiography (3D_TTE) offers valuable insights. We aimed to evaluate volumetric, functional, and strain parameters of both ventricles in [...] Read more.
Right ventricular (RV) involvement in left ventricular hypertrabeculation (LVNC) remains under investigation. Due to its complex anatomy, assessing RV function is challenging, but 3D transthoracic echocardiography (3D_TTE) offers valuable insights. We aimed to evaluate volumetric, functional, and strain parameters of both ventricles in LVNC patients with preserved left ventricular ejection fraction (EF) and compare findings to a control group. This study included 37 LVNC patients and 37 age- and sex-matched controls. 3D_TTE recordings were analyzed using TomTec Image Arena (v. 4.7) and reVISION software to assess volumes, EF, and global/segmental strains. RV EF was further divided into longitudinal (LEF), radial (REF), and antero-posterior (AEF) components. LV volumes were significantly higher in the LVNC group, while RV volumes were comparable. EF and strain values were lower in both ventricles in LVNC patients. RV movement analysis showed significantly reduced LEF and REF, whereas AEF remained normal. These findings suggest subclinical RV dysfunction in LVNC, emphasizing the need for follow-up, even with preserved EF. Full article
(This article belongs to the Section Medical Imaging)
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17 pages, 2193 KiB  
Article
Inherited Hypertrabeculation? Genetic and Clinical Insights in Blood Relatives of Genetically Affected Left Ventricular Excessive Trabeculation Patients
by Balázs Mester, Zoltán Lipták, Kristóf Attila Farkas-Sütő, Kinga Grebur, Flóra Klára Gyulánczi, Alexandra Fábián, Bálint András Fekete, Tamás Attila György, Csaba Bödör, Attila Kovács, Béla Merkely and Andrea Szűcs
Life 2025, 15(2), 150; https://doi.org/10.3390/life15020150 - 22 Jan 2025
Viewed by 1118
Abstract
Genetically determined left ventricular excessive trabeculation (LVET) has a wide clinical spectrum ranging from asymptomatic subjects to severe heart failure with arrhythmias and thromboembolic events. Unlike other cardiomyopathies, the relatives of LVET patients never reach the spotlight of guidelines and clinical practice, although [...] Read more.
Genetically determined left ventricular excessive trabeculation (LVET) has a wide clinical spectrum ranging from asymptomatic subjects to severe heart failure with arrhythmias and thromboembolic events. Unlike other cardiomyopathies, the relatives of LVET patients never reach the spotlight of guidelines and clinical practice, although these family members can be often affected by these conditions. Thus, we aimed to investigate the relatives of LVET by multidimensional analysis, such as genetic testing, ECG and cardiac ultrasound (ECHO). We included 55 blood relatives from the family of 18 LVET patients (male = 27, age = 44 ± 20.8y), who underwent anamnesis registration. With Sanger sequencing, the relatives were classified into genetically positive (GEN-pos) and unaffected (GEN-neg) subgroups. In addition to regular ECG parameters, Sokolow-Lyon Index (SLI) values were calculated. 2D ECHO images were analysed with TomTec Arena, evaluating LV volumetric, functional (EF) and strain parameters. Individuals were categorized into JENNI-pos and JENNI-neg morphological subgroups according to the Jenni LVET ECHO criteria. Family history showed frequent involvement (arrhythmia 61%, stroke 56%, syncope 39%, sudden cardiac death 28%, implanted device 28%), as well as personal anamnesis (subjective symptoms 75%, arrhythmias 44%). ECG and ECHO parameters were within the normal range. In terms of genetics, 78% of families and 38% of relatives carried the index mutation. LV_SLI and QT duration were lower in the GEN-pos group; ECHO parameters were comparable in the subgroups. Morphologically, 33% of the relatives met Jenni-LVET criteria were genetically affected and showed lower LV_EF values. The frequently found genetic, morphological and clinical involvement may indicate the importance of screening and, if necessary, regular follow-up of relatives in the genetically affected LVET population. Full article
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12 pages, 4228 KiB  
Review
How to Approach Left Ventricular Hypertrabeculation: A Practical Guide and Literature Review
by Michele Alfieri, Samuele Principi, Alessandro Barbarossa, Giulia Stronati, Roberto Antonicelli, Michela Casella, Antonio Dello Russo and Federico Guerra
J. Clin. Med. 2025, 14(3), 695; https://doi.org/10.3390/jcm14030695 - 22 Jan 2025
Viewed by 1343
Abstract
Left ventricular hypertrabeculation is one of the most debated conditions in modern cardiology. Many studies have tried to characterise this disease by addressing the various clinical risks and diagnostic tools, but its very nosological existence is currently being challenged. The latest ESC guidelines [...] Read more.
Left ventricular hypertrabeculation is one of the most debated conditions in modern cardiology. Many studies have tried to characterise this disease by addressing the various clinical risks and diagnostic tools, but its very nosological existence is currently being challenged. The latest ESC guidelines on cardiomyopathies state that it should be addressed as a morphologic trait rather than an intrinsic disease of the cardiac muscle. Despite the huge number of diagnostic criteria and possible phenocopies, no specific consensus identifies a specific flowchart regarding the management of patients with suspected hypertrabeculation. This review aims to provide a clinical approach for patients with a phenotypical appearance of excessive trabeculation. Full article
(This article belongs to the Section Cardiology)
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12 pages, 691 KiB  
Case Report
Left Ventricular Hypertrabeculation (LVHT) in Athletes: A Negligible Finding?
by Rokas Jagminas, Rokas Šerpytis, Pranas Šerpytis and Sigita Glaveckaitė
Medicina 2025, 61(1), 32; https://doi.org/10.3390/medicina61010032 - 28 Dec 2024
Viewed by 1351
Abstract
Left ventricular hypertrabeculation (LVHT) used to be a rare phenotypic trait. With advances in diagnostic imaging techniques, LVHT is being recognised in an increasing number of people. The scientific data show the possibility of the overdiagnosis of this cardiomyopathy in a population of [...] Read more.
Left ventricular hypertrabeculation (LVHT) used to be a rare phenotypic trait. With advances in diagnostic imaging techniques, LVHT is being recognised in an increasing number of people. The scientific data show the possibility of the overdiagnosis of this cardiomyopathy in a population of people who have very high levels of physical activity. We describe the case of a young athlete with no medical history, who presented with syncope during a marathon running race. Initial evaluation showed elevated troponin I; transthoracic echocardiography showed a trabeculated ventricle and subsequent cardiac magnetic resonance (CMR) revealed left ventricular hypertrabeculation (LVHT). During subsequent evaluation by tilt table testing, vasovagal syncope was identified as the likely aetiology of the syncope. The patient was advised to cease sports and stimulants like caffeine use. At the 29-month follow-up, CMR showed the normalisation of the non-compacted to compacted myocardial ratio and an improvement in left ventricular function, with no further syncopal episodes reported. This is an example of the physiological hypertrabeculation of the LV apex in a recreational endurance athlete, with the normalisation of the non-compacted to compacted myocardial layer ratio after detraining. Physiological hypertrabeculation, a benign component of exercise-induced cardiac remodelling, must be differentiated from non-compaction cardiomyopathy and other pathologies causing syncope. This case underscores the importance of distinguishing physiological hypertrabeculation from pathological LVHT in athletes, highlighting that exercise-induced cardiac remodelling can normalise with detraining. Full article
(This article belongs to the Section Cardiology)
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10 pages, 771 KiB  
Article
Arrhythmias May Hide a Genetic Cardiomyopathy in Left Ventricular Hypertrabeculation in Children: A Single-Center Experience
by Irma Battipaglia, Nicoletta Cantarutti, Marianna Cicenia, Rachele Adorisio, Virginia Battista, Anwar Baban, Massimo Stefano Silvetti and Fabrizio Drago
Children 2024, 11(10), 1233; https://doi.org/10.3390/children11101233 - 13 Oct 2024
Viewed by 1159
Abstract
Background. Left ventricular hypertrabeculation (LVHT) is a myocardial disorder with different clinical manifestations, from total absence of symptoms to heart failure, arrhythmias, sudden cardiac death (SCD), and thromboembolic events. It is challenging to distinguish between the benign and pathological forms of LVHT. The [...] Read more.
Background. Left ventricular hypertrabeculation (LVHT) is a myocardial disorder with different clinical manifestations, from total absence of symptoms to heart failure, arrhythmias, sudden cardiac death (SCD), and thromboembolic events. It is challenging to distinguish between the benign and pathological forms of LVHT. The aim of this study was to describe the arrhythmic manifestations of LVHT in a large group of pediatric patients and to correlate them with genetic results or other clinical markers. Methods. We retrospectively enrolled 140 pediatric patients with diagnosis of LVHT followed at our Institution from 2013 to 2023. Data regarding family history, instrumental exams, cardiac magnetic resonance, genetic testing and outcomes were collected. Most of them had isolated LVHT (80.7%); in other patients, mixed phenotypes (hypertrophic or dilated cardiomyopathy or congenital heart disease) were present. Results. Arrhythmias were found in 33 children (23.6%): 13 (9.3%) supraventricular tachyarrhythmias; 14 (10%) ventricular arrhythmias (five frequent PVCs (premature ventricular contractions), eight patients with ventricular tachycardia (VT), one ventricular fibrillation (VF)); two (1.4%) sinus node disfunctions; two (1.4%) complete atrio-ventricular blocks (AVB), three (2.1%) paroxysmal complete AVB, one (0.7%) severe I degree AVB. Three patients received an ICD (implantable cardioverter defibrillator). Comparison between LVHT patients with (33 pts) and without (107 pts) arrhythmias as regards genetic testing showed a statistical significance for the presence of class 4 or 5 genetic variants and arrhythmic manifestation (p = 0.037). Conclusions. In our pediatric cohort with LVHT, good outcomes were observed, but arrhythmias were not so rare (23.6%); no SCD occurred. Full article
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15 pages, 3814 KiB  
Review
Left Ventricular Non-Compaction: Evolving Concepts
by Raimondo Pittorru, Manuel De Lazzari, Federico Migliore, Enrica Frasson, Alessandro Zorzi, Alberto Cipriani, Giulia Brunetti, Giorgio De Conti, Raffaella Motta, Martina Perazzolo Marra and Domenico Corrado
J. Clin. Med. 2024, 13(19), 5674; https://doi.org/10.3390/jcm13195674 - 24 Sep 2024
Cited by 4 | Viewed by 3300
Abstract
Left ventricular non-compaction (LVNC) is a rare heart muscle disease defined by the presence of prominent left ventricular trabeculation, deep intertrabecular recesses, and a thin compact layer. Several hypotheses have been proposed regarding its pathogenesis, with the most recently accepted one being that [...] Read more.
Left ventricular non-compaction (LVNC) is a rare heart muscle disease defined by the presence of prominent left ventricular trabeculation, deep intertrabecular recesses, and a thin compact layer. Several hypotheses have been proposed regarding its pathogenesis, with the most recently accepted one being that compact layer and trabeculated layers develop independently according to an “allometric growth”. The current gold-standard diagnostic criteria (in particular, the Petersen index non-compaction/compaction ratio > 2.3) reflect an excess of myocardial trabeculation, which is not a specific morpho-functional feature of LVNC cardiomyopathy but merely a “phenotypic trait”, even described in association with other myocardial disease and over-loading conditions. Accordingly, the European Society of Cardiology (ESC) guidelines have definitively abolished the term ‘LVNC cardiomyopathy’. Recently, evolving perspectives led to the restoration of LVNC cardiomyopathy by distinguishing “hypertrabeculation phenotype” and “non-compaction phenotype”. It has been proposed that the disease-specific pathophysiologic mechanism is a congenitally underdevelopment of the compact layer accounting for an impairment of the left ventricular systolic function. Future prospective research should focus on the clinical and prognostic relevance of compact layer thinning rather than excessive trabeculation, which could significantly influence the management of patients with LVNC. The review aims to update current knowledge on the pathogenesis, genetics, and diagnostic criteria of LVNC, offering modern insights for future perspectives. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Treatment of Cardiomyopathy)
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10 pages, 842 KiB  
Article
Characterization and Long-Term Prognosis of Patients with Different Phenotypes of Dilated Cardiomyopathy
by Shuyuan Zhang, Shiqi Gao, Zhuang Tian and Shuyang Zhang
J. Cardiovasc. Dev. Dis. 2024, 11(7), 220; https://doi.org/10.3390/jcdd11070220 - 12 Jul 2024
Cited by 1 | Viewed by 1698
Abstract
Background: Long-term prognosis of dilated cardiomyopathy (DCM) in the Chinese population is lacking, and the left ventricular (LV) hypertrabeculation phenotype usually overlaps with DCM. Objectives: The study aims to investigate whether the presence of the LV hypertrabeculation phenotype confers additional adverse prognostic information [...] Read more.
Background: Long-term prognosis of dilated cardiomyopathy (DCM) in the Chinese population is lacking, and the left ventricular (LV) hypertrabeculation phenotype usually overlaps with DCM. Objectives: The study aims to investigate whether the presence of the LV hypertrabeculation phenotype confers additional adverse prognostic information for DCM patients. Methods: We retrospectively reviewed all DCM patients (≥18 years of age at diagnosis) hospitalized in the Peking Union Medical College Hospital between September 2002 and September 2022. The eligible patients were divided into two groups based on echocardiography at diagnosis: the isolated DCM (n = 353), and DCM with the LV hypertrabeculation phenotype (n = 97). The primary endpoint was major adverse cardiac events (MACEs), and multivariate Cox hazards regression models were used to compare the endpoints between the two groups. Results: During a mean follow-up time of 4.6 years, there was no significant difference in the primary endpoint between the isolated DCM and DCM with the LV hypertrabeculation phenotype (p = 0.19). The risk of MACEs in the first 5 years was significantly higher in DCM with the LV hypertrabeculation phenotype than isolated DCM (adjusted HR [95%CI]: 1.83 [1.21–2.77]) and after 5 years the effect of the LV hypertrabeculation phenotype as a prognostic attenuated. Subgroup analysis found a significant interaction for the incidence of MACEs between sex and DCM subtypes (p for interaction = 0.01). Conclusions: DCM with LV hypertrabeculation phenotypes had a higher early (first 5 years) risk of MACEs. For males, the presence of LV hypertrabeculation phenotypes might be an important clue for identifying high-risk DCM patients. Full article
(This article belongs to the Section Cardiovascular Clinical Research)
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13 pages, 2805 KiB  
Article
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities
by Anna Bukaeva, Roman Myasnikov, Olga Kulikova, Alexey Meshkov, Anna Kiseleva, Anna Petukhova, Evgenia Zotova, Peter Sparber, Alexandra Ershova, Evgeniia Sotnikova, Maria Kudryavtseva, Anastasia Zharikova, Sergey Koretskiy, Elena Mershina, Vasily Ramensky, Marija Zaicenoka, Yuri Vyatkin, Alisa Muraveva, Alexandra Abisheva, Tatiana Nikityuk, Valentin Sinitsyn, Mikhail Divashuk, Elena Dadali, Maria Pokrovskaya and Oxana Drapkinaadd Show full author list remove Hide full author list
Int. J. Mol. Sci. 2024, 25(14), 7556; https://doi.org/10.3390/ijms25147556 - 10 Jul 2024
Cited by 3 | Viewed by 1839
Abstract
A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long sought a precise diagnosis. The 41-year-old proband had hypertrophic cardiomyopathy (HCM), left ventricular [...] Read more.
A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long sought a precise diagnosis. The 41-year-old proband had hypertrophic cardiomyopathy (HCM), left ventricular noncompaction, myocardial fibrosis, arrhythmias, and a short stature. His sister showed HCM, myocardial hypertrabeculation and fibrosis, sensorineural deafness, and congenital genitourinary malformations. Their father had left ventricular hypertrophy (LVH). The proband’s eldest daughter demonstrated developmental delay and seizures. We performed a clinical examination and whole-exome sequencing for all available family members. All patients with HCM/LVH shared a c.4411-2A>C variant in ALPK3, a recently known HCM-causative gene. Functional studies confirmed that this variant alters ALPK3 canonical splicing. Due to extracardiac symptoms in the female patients, we continued the search and found two additional single-gene disorders. The proband’s sister had a p.Trp329Gly missense in GATA3, linked to hypoparathyroidism, sensorineural deafness, and renal dysplasia; his daughter had a p.Ser251del in WDR45, associated with beta-propeller protein-associated neurodegeneration. This unique case of three monogenic disorders in one family shows how a comprehensive approach with thorough phenotyping and extensive genetic testing of all symptomatic individuals provides precise diagnoses and appropriate follow-up, embodying the concept of personalized medicine. We also present the first example of a splicing functional study for ALPK3 and describe the genotype–phenotype correlations in cardiomyopathy. Full article
(This article belongs to the Special Issue Genes and Human Diseases 2.0)
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9 pages, 1232 KiB  
Case Report
Novel MYH7 Variant in the Neonate of a Mother with Gestational Diabetes Mellitus Showing Left Ventricular Hypertrophy and Noncompaction
by Sayaka W Ozawa, Satomi Inomata, Yukiko Hata, Shinya Takarada, Mako Okabe, Hideyuki Nakaoka, Keijiro Ibuki, Naoki Nishida, Fukiko Ichida and Keiichi Hirono
Genes 2024, 15(3), 381; https://doi.org/10.3390/genes15030381 - 20 Mar 2024
Cited by 1 | Viewed by 1973
Abstract
Background: Left ventricular hypertrophy (LVH) is a well-recognized cardiac dysfunction in infants of mothers with gestational diabetes mellitus (GDM). Left ventricular noncompaction (LVNC) is a cardiomyopathy that is morphologically characterized by numerous prominent trabeculations and deep intertrabecular recesses on cardiovascular imaging. However, there [...] Read more.
Background: Left ventricular hypertrophy (LVH) is a well-recognized cardiac dysfunction in infants of mothers with gestational diabetes mellitus (GDM). Left ventricular noncompaction (LVNC) is a cardiomyopathy that is morphologically characterized by numerous prominent trabeculations and deep intertrabecular recesses on cardiovascular imaging. However, there have been no case reports on neonates of mothers with GDM showing LVH and LVNC. Case presentation: A patient, with LVH of a mother with GDM, was delivered at 36 weeks of gestation. Prominent trabeculations in the LV, suggesting LVNC, instead of LVH, were apparent 1 week after birth. A heterozygous deletion variant in the MYH7 gene (NM_000257.4: c.1090T>C, p.Phe364Leu) was discovered through genetic testing using a cardiomyopathy-associated gene panel in the patient and his father and the older brother who had LVNC. The patient is now 5 years old and does not have major cardiac events, although LVNC persisted. This is the first case of LVH secondary to a mother with GDM and LVNC with a novel variant in the MYH7 gene. Conclusion: Genetic testing should be conducted to obtain an accurate outcome and medical care in a patient with LVH and subsequently prominent hypertrabeculation in the LV. Full article
(This article belongs to the Special Issue Genetics, Genomics and Precision Medicine in Heart Diseases)
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13 pages, 578 KiB  
Article
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome
by Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino and Maria Cristina Digilio
Diagnostics 2024, 14(6), 594; https://doi.org/10.3390/diagnostics14060594 - 11 Mar 2024
Cited by 1 | Viewed by 3108
Abstract
Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the NSD1 gene located on chromosome 5q35. The prevalence of heart defects [...] Read more.
Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the NSD1 gene located on chromosome 5q35. The prevalence of heart defects (HDs) in individuals with Sotos syndrome is estimated to be around 15–40%. Septal defects and patent ductus arteriosus are the most commonly diagnosed malformations, but complex defects have also been reported. The aim of our study was to analyze the prevalence of HD, the anatomic types, and the genetic characteristics of 45 patients with Sotos syndrome carrying pathogenetic variants of NSD1 or a 5q35 deletion encompassing NSD1, who were followed at Bambino Gesù Children’s Hospital in Rome. Thirty-nine of the forty-five patients (86.7%) had a mutation in NSD1, while six of the forty-five (13.3%) had a deletion. Most of the patients (62.2%, 28/45) were male, with a mean age of 14 ± 7 years (range 0.2–37 years). A total of 27/45 (60.0%) of the patients had heart defects, isolated or combined with other defects, including septal defects (12 patients), aortic anomalies (9 patients), mitral valve and/or tricuspid valve dysplasia/insufficiency (1 patient), patent ductus arteriosus (3 patients), left ventricular non-compaction/hypertrabeculated left ventricle (LV) (4 patients), aortic coarctation (1 patient), aortopulmonary window (1 patient), and pulmonary valve anomalies (3 patients). The prevalences of HD in the two subgroups (deletion versus intragenic mutation) were similar (66.7% (4/6) in the deletion group versus 58.91% (23/39) in the intragenic variant group). Our results showed a higher prevalence of HD in patients with Sotos syndrome in comparison to that described in the literature, with similar distributions of patients with mutated and deleted genes. An accurate and detailed echocardiogram should be performed in patients with Sotos syndrome at diagnosis, and a specific cardiological follow-up program is needed. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Congenital Heart Disease)
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9 pages, 2472 KiB  
Case Report
Percutaneous Modified Blalock–Taussig Shunt Closure in a Patient with Isolated Right Ventricular Hypoplasia
by Stasa Krasic, Ivan Dizdarevic, Lana Vranic, Dejan Nešić and Vladislav Vukomanovic
J. Cardiovasc. Dev. Dis. 2023, 10(11), 460; https://doi.org/10.3390/jcdd10110460 - 15 Nov 2023
Viewed by 2192
Abstract
Clinical presentation, course, and treatment for patients with isolated right ventricular (RV) hypoplasia (IRVH) depends on the degree of hypoplasia that is present—this is a spectrum from spontaneous maturation to Fontan circulation over time. An 8-month-old infant presented with IRVH; in the patient, [...] Read more.
Clinical presentation, course, and treatment for patients with isolated right ventricular (RV) hypoplasia (IRVH) depends on the degree of hypoplasia that is present—this is a spectrum from spontaneous maturation to Fontan circulation over time. An 8-month-old infant presented with IRVH; in the patient, a modified Blalock–Taussig (MBTS) shunt was closed percutaneously after spontaneous RV function recovery. A female newborn was diagnosed with differential cyanosis at birth. The echocardiography showed a hypertrophic RV with a small cavity, a right–left shunt on the atrial septal defect, an almost closed ductus arteriosus (DA), and a small tricuspid valve ring (Z-score-2) with mild regurgitation (pressure gradient 30 mmHg). On the 4th day of life, the patient showed deepened cyanosis and hyperlactatemia was registered. The echocardiography examination revealed a closed DA. Right ventriculography performed on the 5th day of life evidenced the presence of a small hypertrabeculated RV. The pressure in the RV increased. A right-side MBTS was created on the 6th day of life. Further echocardiographic findings indicated a gradual development of the RV and a decrease in RV pressure. MBTS occlusion was performed when the patient was 8 months old. Vital parameters were monitored invasively and noninvasively after the balloon occlusion of MBTS. Percutaneous MBTS occlusion was successfully performed using an Amplatzer vascular plug 2 (AVP2). During the follow-up period, the patient was found to have maintained a normal percutaneous oxyhaemoglobin blood saturation. Full article
(This article belongs to the Section Pediatric Cardiology and Congenital Heart Disease)
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20 pages, 5669 KiB  
Review
The Rare Condition of Left Ventricular Non-Compaction and Reverse Remodeling
by Cristiana Bustea, Alexa Florina Bungau, Delia Mirela Tit, Diana Carina Iovanovici, Mirela Marioara Toma, Simona Gabriela Bungau, Andrei-Flavius Radu, Tapan Behl, Adrian Cote and Elena Emilia Babes
Life 2023, 13(6), 1318; https://doi.org/10.3390/life13061318 - 3 Jun 2023
Cited by 5 | Viewed by 3163
Abstract
Left ventricular non-compaction (LVNC) is a rare disease defined by morphological criteria, consisting of a two-layered ventricular wall, a thin compacted epicardial layer, and a thick hyper-trabeculated myocardium layer with deep recesses. Controversies still exist regarding whether it is a distinct cardiomyopathy (CM) [...] Read more.
Left ventricular non-compaction (LVNC) is a rare disease defined by morphological criteria, consisting of a two-layered ventricular wall, a thin compacted epicardial layer, and a thick hyper-trabeculated myocardium layer with deep recesses. Controversies still exist regarding whether it is a distinct cardiomyopathy (CM) or a morphological trait of different conditions. This review analyzes data from the literature regarding diagnosis, treatment, and prognosis in LVNC and the current knowledge regarding reverse remodeling in this form of CM. Furthermore, for clear exemplification, we report a case of a 41-year-old male who presented symptoms of heart failure (HF). LVNC CM was suspected at the time of transthoracic echocardiography and was subsequently confirmed upon cardiac magnetic resonance imaging. A favorable remodeling and clinical outcome were registered after including an angiotensin receptor neprilysin inhibitor in the HF treatment. LVNC remains a heterogenous CM, and although a favorable outcome is not commonly encountered, some patients respond well to therapy. Full article
(This article belongs to the Special Issue Cardiovascular Diseases: From Basic Research to Clinical Application)
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17 pages, 3856 KiB  
Article
CCBE1 Is Essential for Epicardial Function during Myocardium Development
by Fernando Bonet, Sabrina Brito Añez, José Manuel Inácio, Matthias E. Futschik and José Antonio Belo
Int. J. Mol. Sci. 2022, 23(20), 12642; https://doi.org/10.3390/ijms232012642 - 20 Oct 2022
Cited by 4 | Viewed by 2874
Abstract
The epicardium is a single cell layer of mesothelial cells that plays a critical role during heart development contributing to different cardiac cell types of the developing heart through epithelial-to-mesenchymal transition (EMT). Moreover, the epicardium is a source of secreted growth factors that [...] Read more.
The epicardium is a single cell layer of mesothelial cells that plays a critical role during heart development contributing to different cardiac cell types of the developing heart through epithelial-to-mesenchymal transition (EMT). Moreover, the epicardium is a source of secreted growth factors that promote myocardial growth. CCBE1 is a secreted extracellular matrix protein expressed by epicardial cells that is required for the formation of the primitive coronary plexus. However, the role of CCBE1 during epicardial development was still unknown. Here, using a Ccbe1 knockout (KO) mouse model, we observed that loss of CCBE1 leads to congenital heart defects including thinner and hyper-trabeculated ventricular myocardium. In addition, Ccbe1 mutant hearts displayed reduced proliferation of cardiomyocyte and epicardial cells. Epicardial outgrowth culture assay to assess epicardial-derived cells (EPDC) migration showed reduced invasion of the collagen gel by EPDCs in Ccbe1 KO epicardial explants. Ccbe1 KO hearts also displayed fewer nonmyocyte/nonendothelial cells intramyocardially with a reduced proliferation rate. Additionally, RNA-seq data and experimental validation by qRT-PCR showed a marked deregulation of EMT-related genes in developing Ccbe1 mutant hearts. Together, these findings indicate that the myocardium defects in Ccbe1 KO mice arise from disruption of epicardial development and function. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Cardiac Development and Disease)
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