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Case Reports in Cardiology 2021Pectus excavatum is the most common congenital chest wall deformity. Its effects on cardiopulmonary function, exercise capacity, and body image are variable across...
Pectus excavatum is the most common congenital chest wall deformity. Its effects on cardiopulmonary function, exercise capacity, and body image are variable across affected patients. Management practices for pectus deformity vary considerably, but most authors agree on the need for surgical correction if pectus index is >3.0 and there is evidence of cardiac compression on imaging. We encountered a case of a middle-aged man with severe pectus deformity and a coincidental large coronary artery to right atrium fistula. Despite a pectus index of 4.8 and severe right heart compression on thoracic imaging, he had not developed any symptoms or hemodynamic complication from this pectus deformity. Additionally, hemodynamic studies revealed normal left and right heart function, normal pulmonary artery pressures, and absence of any evidence of myocardial ischemia or significant left-to-right shunt. These abnormalities would have been expected with a coronary fistula of this size. His pectus deformity and coronary fistula had opposing hemodynamic effects, thus protecting him from severe complications of either. Presently, an association between congenital coronary fistulae and pectus excavatum is not known, and this is one of the very first reported cases of these two congenital abnormalities coexisting in a patient. Additionally, concurrence of these two conditions poses a unique therapeutic challenge due to their opposing hemodynamic effects.
PubMed: 33763257
DOI: 10.1155/2021/6628900 -
Journal of Thoracic Disease Jul 2022Pectus excavatum often imposes significant burden on the patients' quality of life. However, despite the known biopsychosocial effects, the deformity remains...
BACKGROUND
Pectus excavatum often imposes significant burden on the patients' quality of life. However, despite the known biopsychosocial effects, the deformity remains underappreciated. Patient reported outcome measures can be used to measure and appreciate results from a patient's perspective. The pectus excavatum evaluation questionnaire (PEEQ) is the most employed disease specific instrument to measure patient-reported outcome measures (PROMs). A translation and linguistic validation of this questionnaire is presented for its use in the Dutch pediatric pectus excavatum population. By providing an insight in our translation process, we want to encourage other researchers to perform translations to other languages to make the questionnaire available to clinicians and researchers worldwide.
METHODS
The 22-item PEEQ was translated and adapted according to the leading guidelines for the translation of patient reported outcome measures. Conceptual equivalence and cultural adaptation were emphasized.
RESULTS
One forward translation was produced through reconciliation of two forward translations. Back translation resulted in 15 identical items, as well as 6 literal, and 1 conceptual discrepancy. The latter was expected as during the forward translation a more culturally appropriate translation was chosen. Ten patients were involved during the cognitive debriefing process, following which one item was revised and the final Dutch version was established.
CONCLUSIONS
We provide a culturally appropriate and linguistically validated Dutch version of the PEEQ.
PubMed: 35928622
DOI: 10.21037/jtd-22-252 -
MedRxiv : the Preprint Server For... Apr 20233q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000â€"197350000). 3q29del is associated with...
3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000â€"197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for schizophrenia, but medical phenotypes are less well-described. We used the online 3q29 registry ( 3q29deletion.org ) to recruit 57 individuals with 3q29del (56.14% male) and requested information about musculoskeletal phenotypes with a custom questionnaire. 85.96% of participants with 3q29del reported at least one musculoskeletal phenotype. Congenital anomalies were most common (70.18%), with pes planus (40.35%), pectus excavatum (22.81%), and pectus carinatum (5.26%) significantly elevated relative to the pediatric general population. 49.12% of participants reported fatigue after 30 minutes or less of activity. Bone fractures (8.77%) were significantly elevated relative to the pediatric general population, suggesting 3q29del impacts bone strength. Participants commonly report receiving medical care for musculoskeletal complaints (71.93%), indicating that these phenotypes impact quality of life for individuals with 3q29del. This is the most comprehensive description of musculoskeletal phenotypes in 3q29del to date, suggests ideas for clinical evaluation, and expands our understanding of the phenotypic spectrum of this syndrome.
PubMed: 37066183
DOI: 10.1101/2023.04.03.23288084 -
Journal of Thoracic Disease Feb 2024A wide variety of congenital chest wall deformities that manifest in infants, children and adolescents exists, among which are pectus excavatum and pectus carinatum.... (Review)
Review
BACKGROUND AND OBJECTIVE
A wide variety of congenital chest wall deformities that manifest in infants, children and adolescents exists, among which are pectus excavatum and pectus carinatum. Numerous studies have been conducted over the years aiming to better understand these deformities. This report provides a brief overview of what is currently known about the epidemiology, etiopathogenesis, clinical presentation, and classification of these deformities, and highlights the gaps in knowledge.
METHODS
A search was conducted for all the above-described domains in the PubMed and Embase databases.
KEY CONTENT AND FINDINGS
A total of 147 articles were included in this narrative review. Estimation of the true incidence and prevalence of pectus excavatum and carinatum is challenging due to lacking consensus on a definition of both deformities. Nowadays, several theories for the development of pectus excavatum and carinatum have been suggested which focus on intrinsic or extrinsic pathogenic factors, with the leading hypothesis focusing on overgrowth or growth disturbance of costal cartilages. Furthermore, genetic predisposition to the deformities is likely to exist. Pectus excavatum is frequently associated with cardiopulmonary symptoms, while pectus carinatum patients mostly present with cosmetic complaints. Both deformities are classified based on the shape or severity of the deformity. However, each classification system has its limitations.
CONCLUSIONS
Substantial progress has been made in the past few decades in understanding the development and symptomatology of pectus excavatum and carinatum. Current hypotheses on the etiology of the deformities should be confirmed by biomedical and genetic studies. For clinical purposes, the establishment of a clear definition and classification system for both deformities based on objective morphologic features is eagerly anticipated.
PubMed: 38505013
DOI: 10.21037/jtd-23-957 -
Life (Basel, Switzerland) Jun 2020pectus excavatum (PE) is the most common congenital deformity of the thoracic wall. Lately, significant achievements have been made in finding new, less invasive...
BACKGROUND
pectus excavatum (PE) is the most common congenital deformity of the thoracic wall. Lately, significant achievements have been made in finding new, less invasive treatment methods for PE. However, most of the experimental work was carried out without the help of an animal model. In this report we describe a method to create an animal model for PE in Sprague-Dawley rats.
METHODS
We selected 15 Sprague-Dawley rat pups and divided them into two groups: 10 for the experimental group (EG) and 5 for the control group (CG). We surgically resected the last four pairs of costal cartilages in rats from the EG. The animals were assessed by CT-scan prior to surgery and weekly for four consecutive weeks. After four weeks, the animals were euthanized and the thoracic cage was dissected from the surrounding tissue.
RESULTS
On the first postoperative CT, seven days after surgery, we observed a marked depression of the lower sternum in all animals from the EG. This deformity was present at every CT-scan after surgery and at the post-euthanasia assessment.
CONCLUSIONS
By decreasing the structural strength of the lower costal cartilages, we produced a PE animal model in Sprague-Dawley rats.
PubMed: 32604800
DOI: 10.3390/life10060096 -
Journal of Thoracic Disease Oct 2021The prevalence of Marfan syndrome (MFS) is estimated to be 1 in 10,000 to 15,000 individuals, but the phenotype of MFS may not be apparent and hence its diagnosis may... (Review)
Review
OBJECTIVE
The prevalence of Marfan syndrome (MFS) is estimated to be 1 in 10,000 to 15,000 individuals, but the phenotype of MFS may not be apparent and hence its diagnosis may not be considered by clinicians. Furthermore, the effects of MFS on the lungs and breathing are underrecognized despite the high morbidity that can occur. The objective of this Narrative Review is to delineate the molecular consequences of a defective fibrillin-1 protein and the skeletal and lung abnormalities in MFS that may contribute to respiratory compromise. It is important for clinicians to be cognizant of these MFS-associated respiratory conditions, and a contemporaneous review is needed.
BACKGROUND
MFS is an autosomal dominant, connective tissue disorder caused by mutations in the () gene, resulting in abnormal elastic fibers as well as increased tissue availability of transforming growth factor-beta (TGFβ), both of which lead to the protean clinical abnormalities. While these clinical characteristics are most often recognized in the cardiovascular, skeletal, and ocular systems, MFS may also cause significant impairment on the lungs and breathing.
METHODS
We searched PubMed for the key words of "Marfan syndrome," "pectus excavatum," and "scoliosis" with that of "lung disease," "breathing", or "respiratory disease." The bibliographies of identified articles were further searched for relevant articles not previously identified. Each relevant article was reviewed by one or more of the authors and a narrative review was composed.
CONCLUSIONS
Though the classic manifestations of MFS are cardiovascular, skeletal, and ocular, gene mutation can induce a variety of effects on the respiratory system, inducing substantial morbidity and potentially increased mortality. These respiratory effects may include chest wall and spinal deformities, emphysema, pneumothorax, sleep apnea, and potentially increased incidence of asthma, bronchiectasis, and interstitial lung disease. Further research into approaches to prevent respiratory complications is needed, but improved recognition of the respiratory complications of MFS is necessary before this research is likely to occur.
PubMed: 34795948
DOI: 10.21037/jtd-21-1064 -
Journal of Thoracic Disease Feb 2021Individuals affected by chest wall deformities may search for information on these conditions on the web. Google data may reflect the global interest in health-related...
BACKGROUND
Individuals affected by chest wall deformities may search for information on these conditions on the web. Google data may reflect the global interest in health-related information. Our aim was to investigate the global trends in searches associated with the topics "Pectus excavatum" and "Pectus carinatum" using Google Trends.
METHODS
We retrieved the global data from 1st January 2004 to 31st October 2019. We analyzed the relative search volume (RSV) for countries or areas with a no-low search volume. We compared differences in interest between seasons using the Kruskal-Wallis test with the test.
RESULTS
The median RSV for the pectus excavatum was equal to 58.00 (54.00-65.00) while for pectus carinatum 28.00 (23.25-31.00). The interest in pectus excavatum decreases on average by 0.98 RSV each year, while interest in pectus carinatum increased each year by 0.87 RSV. We observed the highest interest in analyzed topics during summer and the lowest during winter. The relative difference in interest between summer and winter was equal to 21.4% for pectus excavatum and 19.2% for pectus carinatum. Pectus excavatum was the most popular topic in n=51 countries or areas, while pectus carinatum in n=7 countries or areas/regions.
CONCLUSIONS
Globally, interest in pectus excavatum is higher than the interest in pectus carinatum that might reflect real-world prevalence. The interest in both topics shows seasonal variation. The Internet is an essential source of information on chest wall deformities. The medical professionals should provide quality content on pectus excavatum and pectus carinatum.
PubMed: 33717576
DOI: 10.21037/jtd-20-2924 -
Canadian Association of Radiologists... May 2023Marfan syndrome (MFS) is an inherited connective tissue disorder. Pectus excavatum (PEX) is common in MFS. The purpose was to evaluate the association of PEX with...
Marfan syndrome (MFS) is an inherited connective tissue disorder. Pectus excavatum (PEX) is common in MFS. The purpose was to evaluate the association of PEX with cardiovascular manifestations of MFS, biventricular size and function. MFS adults undergoing cardiac MRI were retrospectively evaluated. Exclusion criteria were incomplete cardiac MRI, significant artifacts, co-existent ischaemic or congenital heart disease. Haller Index (HI) ≥3.25 classified patients as PEX positive (PEX+) and PEX negative (PEX-). Cardiac MRI analysis included assessment of mitral valve prolapse (MVP), mitral annular disjunction (MAD), biventricular volumetry and aortic dimensions. 212 MFS patients were included, 76 PEX+ and 136 PEX- (HI 8.3 ± 15.2 vs 2.3 ± 0.5, < .001). PEX+ were younger (33.4 ± 12.0 vs 38.1 ± 14.3 years, = .02) and similar in sex distribution (55% vs 63% male, = .26) compared to PEX-. MVP and MAD were more frequent in PEX+ vs PEX- (43/76 [57%] vs 37/136 [27%], < .001; 44/76 [58%] vs 50/136[37%], = .003, respectively). PEX+ had higher right ventricular end-diastolic and end-systolic volumes (RVEDVi 92 ± 17mL/m2 vs 84 ± 22mL/m2, = .04; RVESVi 44 ± 10 mL/m2 vs 39 ± 14 mL/m2, = .02), lower RV ejection fraction (RVEF 52 ± 5% vs 55 ± 6%, = .01) compared to PEX-. Left ventricular (LV) volumes, LVEF and aortic dimensions were similar. MFS adults with PEX have higher frequency of cardiac manifestations including MV abnormalities, increased RV volumes and lower RVEF compared to those without PEX. Awareness of this association is important for all radiologists who interpret aortic CT or MRI, where HI can be easily measured. PEX in MFS may suggest more severe disease expression necessitating careful screening for MV abnormalities and outcomes surveillance.
Topics: Adult; Humans; Male; Female; Marfan Syndrome; Mitral Valve; Funnel Chest; Retrospective Studies; Ventricular Remodeling; Mitral Valve Prolapse
PubMed: 36164999
DOI: 10.1177/08465371221127236 -
World Journal of Pediatric Surgery 2020Pectus excavatum, the most common chest wall deformity in children, accounts for nearly 90% of congenital malformations of chest wall. Initially, both parents and... (Review)
Review
BACKGROUND
Pectus excavatum, the most common chest wall deformity in children, accounts for nearly 90% of congenital malformations of chest wall. Initially, both parents and doctors paid more attention to the influence of this deformity on patient appearance and psychology. Following deeper studies of pectus excavatum, researchers found that it also affected cardiac functions. The purpose of this review aims to present recent research progress in the effects of pectus excavatum on cardiac functions.
DATA SOURCES
Based on aspects of CT, ultrasound cardiography (UCG) and MRI, all the recent literatures on the influence of pectus excavatum on cardiac function were searched and reviewed.
RESULTS
Moderate and severe pectus excavatum did have a negative effect on cardiac function. Cardiac rotation angle, cardiac compression index, right atrial and tricuspid annulus size, septal motion and myocardial strain are relatively effective indexes to evaluate cardiac function.
CONCLUSIONS
Pectus excavatum did have a negative effect on cardiac function; so surgeons should actively diagnose and treat such patients in clinical work. However, further research is needed on to explore the measures and indicators that can reflect the changes of cardiac function in patients objectively, accurately, effectively and timely.
PubMed: 36474921
DOI: 10.1136/wjps-2020-000142 -
The Pan African Medical Journal 2021
PubMed: 34367426
DOI: 10.11604/pamj.2021.38.347.28813