Napredak koncepta višerazinskog sustavskog inženjerstva u razumijevanju srčanog razvoja

Multiscale systems engineering provides a way to integrate models of real-world phenomena that allows a holistic understanding of component interactions at different levels of scale simultaneously. The discipline draws upon information engineering to provide ontological representations that are derived from digital libraries of terms, them-selves found at distributed locations around the world. Cardiac development is well understood within discrete levels of analysis. The application of the multiscale framework gives added value by unlocking the relationships between genetic-based information at one level of analysis and the phenotype it encodes for at the cell and organ levels of abstraction. The multiscale-based relationships have begun to demonstrate new insights into normal cardiac development and conditions that give rise to congenital heart diseases such as the tetralogy of Fallot. This paper describes progress made in combining ontology-based information models and explains the importance of the role of multiscale systems engineering.Višerazinsko sustavsko inženjerstvo pruža mogućnost integracije modela različitih pojava iz stvarnog svijeta, što omogućuje cjelovito razumijevanje interakcija komponenti sustava istovremeno na različitim razinama skale. Disciplina je to koja koristi informatiku za omogućavanje ontoloških reprezentacija koje se izvode iz digitalnih knjižnica pojmova smještenih na raspodijeljnim lokacijama širom svijeta. Unutar pojedinačnih razina analize postoji dobro razmijevanje srčanog razvoja. Primjena višerazinskog okvira daje dodatnu vrijednost otključavajući vezu između genetski temeljenih informacija na jednoj razini analize i fenotipa koji kodira na razinama apstrakcije stanice i organa. Višerazinski temeljene veze počele su donositi nove spoznaje normalnog srčanog razvoja i uvjeta koji vode k pojavi prirođenih srčanih grešaka kao što je Fallotova tetralogija. Ovaj rad opisuje napredak postignut kombiniranjem ontologijski temeljenih infomacijskih modela i objašnjava važnost uloge višerazinskog sustavskog inženjerstva

Surgical treatment of subaortic stenosis after biventricular repair of double-outlet right ventricle

AbstractOut of 180 patients who underwent biventricular repair of double-outlet right ventricle between 1980 and 1995, 9 (5%) required reoperation because of subaortic stenosis. Two other patients who initially underwent operation elsewhere underwent reoperation at our institution because of subaortic stenosis. The median age at biventricular repair was 4 months. Repair consisted of tunnel construction from the left ventricle to the aorta in nine patients; the remaining two patients received an arterial switch operation with ventricular septal defect closure. Subaortic stenosis developed with time: the mean postoperative left ventricle–to–aorta gradient after repair was 10 ± 19 mm Hg (range, 0 to 50 mm Hg) and became 84 ± 27 mm Hg (range, 40 to 124 mm Hg) in a mean delay of 45 ± 66 months (range, 1 to 213 months). At reoperation, the obstruction was caused by the protrusion of the inferior rim of the ventricular septal defect into the left ventricular outflow tract associated with subaortic hypertrophied muscle and membrane. The 11 patients underwent 15 reoperations. Surgical technique consisted of an extended septoplasty in 6 reoperations. In this technique an incision was made in the septal patch and was extended into the muscle toward the apex until a large opening of the left ventricular outflow pathway was obtained. A new patch was then secured to streamline the left ventricular outflow tract. None of the patients who underwent extended septoplasty had to undergo reoperation. There were no early or late deaths. At 115 ± 85 months after biventricular repair, all patients were in New York Heart Association functional class I or II and the mean postoperative left ventricle–to–aorta gradient was 20 ± 24 mm Hg (range, 0 to 60 mm Hg). We conclude that after biventricular repair of double-outlet right ventricle, the subaortic region is at risk for the development of stenosis. Surgical treatment adapted to the anatomy of the obstruction can offer good early and midterm results. It seems that an aggressive approach by an extended septoplasty avoids multiple reoperations. (J Thorac Cardiovasc Surg 1996;112:1570-80

Surgically created double-orifice left atrioventricular valve: A valve-sparing repair in selected atrioventricular septal defects

AbstractObjectives: Some features of the left atrioventricular valve (large mural leaflet, dystrophic tissue) represent a challenge for repair of atrioventricular septal defects without postoperative regurgitation. A retrospective study was conducted to evaluate the results of surgically creating a double-orifice left atrioventricular valve in such circumstances. Clinical results were analyzed according to valvular and subvalvular left atrioventricular valve measurements in pathologic specimens with atrioventricular septal defects. Methods: Among 157 patients operated on for atrioventricular septal defect since October 1989, 10 patients underwent primary repair (n = 8) or reoperation (n = 2) by this procedure. Median age at repair was 3.3 years (0.1-33 years). Anatomic types were complete (n = 3), intermediate (n = 5), and partial (n = 2). Preoperative moderate to severe left atrioventricular valve regurgitation was present in 6 patients. After the repair (two-patch technique in complete atrioventricular septal defect, cleft closed in each case), these 10 patients were found to have moderate to severe residual regurgitation not amenable to repair by annuloplasty. The top edge of the mural leaflet was anchored to the facing free edge of the cleft. Results: No hospital death or morbidity was observed. Left atrioventricular valve regurgitation was absent or trivial (8 patients) and mild (2 patients). Color-coded echocardiography did not show significant left atrioventricular valve stenosis. The mean diastolic pressure gradient across the left atrioventricular valve was 3.2 ± 1.1 mm Hg (1.4-4.5 mm Hg). At a median follow-up of 72 months (6-91 months), there was 1 late death, unrelated to left atrioventricular valve malfunction, due to pulmonary vascular obstructive disease. Left atrioventricular valve regurgitation did not increase over time, except in 1 patient in whom regurgitation recently progressed from mild to moderate. At rest, the mean diastolic pressure gradient across the left atrioventricular valve was 3.8 ± 2.9 mm Hg (1.5-11.2 mm Hg). One child had an early moderate stenosis without pulmonary hypertension. Studies on pathologic specimens (n = 34) indicated that long chordal lengths and large mural leaflet size are essential independent anatomic features to assess its feasibility. Conclusions: Surgical creation of a double-orifice left atrioventricular valve is an effective additional procedure for repair of atypical cases of atrioventricular septal defect. The operation may decrease the need for reoperation or left atrioventricular valve replacement. (J Thorac Cardiovasc Surg 2001;121:352-65

Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code

<p>Abstract</p> <p>Background</p> <p>Classification of the overall spectrum of congenital heart defects (CHD) has always been challenging, in part because of the diversity of the cardiac phenotypes, but also because of the oft-complex associations. The purpose of our study was to establish a comprehensive and easy-to-use classification of CHD for clinical and epidemiological studies based on the long list of the International Paediatric and Congenital Cardiac Code (IPCCC).</p> <p>Methods</p> <p>We coded each individual malformation using six-digit codes from the long list of IPCCC. We then regrouped all lesions into 10 categories and 23 subcategories according to a multi-dimensional approach encompassing anatomic, diagnostic and therapeutic criteria. This anatomic and clinical classification of congenital heart disease (ACC-CHD) was then applied to data acquired from a population-based cohort of patients with CHD in France, made up of 2867 cases (82% live births, 1.8% stillbirths and 16.2% pregnancy terminations).</p> <p>Results</p> <p>The majority of cases (79.5%) could be identified with a single IPCCC code. The category "Heterotaxy, including isomerism and mirror-imagery" was the only one that typically required more than one code for identification of cases. The two largest categories were "ventricular septal defects" (52%) and "anomalies of the outflow tracts and arterial valves" (20% of cases).</p> <p>Conclusion</p> <p>Our proposed classification is not new, but rather a regrouping of the known spectrum of CHD into a manageable number of categories based on anatomic and clinical criteria. The classification is designed to use the code numbers of the long list of IPCCC but can accommodate ICD-10 codes. Its exhaustiveness, simplicity, and anatomic basis make it useful for clinical and epidemiologic studies, including those aimed at assessment of risk factors and outcomes.</p

Origin of congenital coronary arterio-ventricular fistulae from anomalous epicardial and myocardial development.

Coronary Artery Fistulae (CAFs) are cardiac congenital anomalies consisting of an abnormal communication of a coronary artery with either a cardiac chamber or another cardiac vessel. In humans, these congenital anomalies can lead to complications such as myocardial hypertrophy, endocarditis, heart dilatation, and failure. Unfortunately, despite their clinical relevance, the aetiology of CAFs remains unknown. In this work, we have used two different species (mouse and avian embryos) to experimentally model CAFs morphogenesis. Both conditional Itga4 (alpha 4 integrin) epicardial deletion in mice and cryocauterisation of chick embryonic hearts disrupted epicardial development and ventricular wall growth, two essential events in coronary embryogenesis. Our results suggest that myocardial discontinuities in the embryonic ventricular wall promote the early contact of the endocardium with epicardial-derived coronary progenitors at the cardiac surface, leading to ventricular endocardial extrusion, precocious differentiation of coronary smooth muscle cells, and the formation of pouch-like aberrant coronary-like structures in direct connection with the ventricular lumen. The structure of these CAF-like anomalies was compared with histopathological data from a human CAF. Our results provide relevant information for the early diagnosis of these congenital anomalies and the molecular mechanisms that regulate their embryogenesis.The authors thank Dr. A. Rojas (CABIMER, Sevilla, Spain) and Prof. Thalia Papayannopoulou (University of Washington, WA, USA) for sharing with us the G2- Gata4-Cre and Itga4-floxed mouse lines, respectively. We also thank Vanessa Benhamo (Institut Imagine) for her expert support with HREM. Finally, we thank all members of “DeCA” laboratory (University of Málaga, Málaga, Spain), and the “Heart Morphogenesis” laboratory (Institut Imagine and Institut Pasteur, Paris, France) for their help and fruitful discussions on this paper. This work was supported by the Spanish Ministry of Science, R+D+i National Programme [grants RTI2018-095410-RBI00 and PID2021-122626-OB-I00], Spanish Ministry of Science-ISCIII [grant number RD16/0011/0030], and University of Málaga [grant number UMA18-FEDERJA-146] to [JMPP]; Consejería de Salud y Familias, Junta de Andalucía [grant number PIER-0084- 2019] to [JAGD]; University of Málaga [grant number I Plan Propio-UMA-A.4] to [ARV]; Spanish Ministry of Science, Innovation, and Universities (MCIU) (CIBER CV) [grant numbers PID2019-104776RB-I00 and CB16/11/00399] to [JLDLP].S

Classification of Ventricular Septal Defects for the Eleventh Iteration of the International Classification of Diseases—Striving for Consensus: A Report From the International Society for Nomenclature of Paediatric and Congenital Heart Disease

The definition and classification of ventricular septal defects have been fraught with controversy. The International Society for Nomenclature of Paediatric and Congenital Heart Disease is a group of international specialists in pediatric cardiology, cardiac surgery, cardiac morphology, and cardiac pathology that has met annually for the past 9 years in an effort to unify by consensus the divergent approaches to describe ventricular septal defects. These efforts have culminated in acceptance of the classification system by the World Health Organization into the 11th Iteration of the International Classification of Diseases. The scheme to categorize a ventricular septal defect uses both its location and the structures along its borders, thereby bridging the two most popular and disparate classification approaches and providing a common language for describing each phenotype. Although the first-order terms are based on the geographic categories of central perimembranous, inlet, trabecular muscular, and outlet defects, inlet and outlet defects are further characterized by descriptors that incorporate the borders of the defect, namely the perimembranous, muscular, and juxta-arterial types. The Society recognizes that it is equally valid to classify these defects by geography or borders, so the emphasis in this system is on the second-order terms that incorporate both geography and borders to describe each phenotype. The unified terminology should help the medical community describe with better precision all types of ventricular septal defects

Nomenclature for Pediatric and Congenital Cardiac Care: Unification of Clinical and Administrative Nomenclature – The 2021 International Paediatric and Congenital Cardiac Code (IPCCC) and the Eleventh Revision of the International Classification of Diseases (ICD-11)

Substantial progress has been made in the standardization of nomenclature for paediatric and congenital cardiac care. In 1936, Maude Abbott published her Atlas of Congenital Cardiac Disease, which was the first formal attempt to classify congenital heart disease. The International Paediatric and Congenital Cardiac Code ( IPCCC ) is now utilized worldwide and has most recently become the paediatric and congenital cardiac component of the Eleventh Revision of the International Classification of Diseases ( ICD-11 ). The most recent publication of the IPCCC was in 2017. This manuscript provides an updated 2021 version of the IPCCC . The International Society for Nomenclature of Paediatric and Congenital Heart Disease ( ISNPCHD ), in collaboration with the World Health Organization (WHO), developed the paediatric and congenital cardiac nomenclature that is now within the eleventh version of the International Classification of Diseases (ICD-11). This unification of IPCCC and ICD-11 is the IPCCC ICD-11 Nomenclature and is the first time that the clinical nomenclature for paediatric and congenital cardiac care and the administrative nomenclature for paediatric and congenital cardiac care are harmonized. The resultant congenital cardiac component of ICD-11 was increased from 29 congenital cardiac codes in ICD-9 and 73 congenital cardiac codes in ICD-10 to 318 codes submitted by ISNPCHD through 2018 for incorporation into ICD-11. After these 318 terms were incorporated into ICD-11 in 2018, the WHO ICD-11 team added an additional 49 terms, some of which are acceptable legacy terms from ICD-10, while others provide greater granularity than the ISNPCHD thought was originally acceptable. Thus, the total number of paediatric and congenital cardiac terms in ICD-11 is 367. In this manuscript, we describe and review the terminology, hierarchy, and definitions of the IPCCC ICD-11 Nomenclature . This article, therefore, presents a global system of nomenclature for paediatric and congenital cardiac care that unifies clinical and administrative nomenclature. The members of ISNPCHD realize that the nomenclature published in this manuscript will continue to evolve. The version of the IPCCC that was published in 2017 has evolved and changed, and it is now replaced by this 2021 version. In the future, ISNPCHD will again publish updated versions of IPCCC , as IPCCC continues to evolve