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Interdisciplinarity in Cardiovascular Diseases: From Pathophysiology to Diagnosis and Treatment: 3rd Edition

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A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Physiology and Pathology".

Deadline for manuscript submissions: 30 September 2025 | Viewed by 7356

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Prof. Dr. Mariana Floria

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Department of Internal Medicine, University of Medicine and Pharmacy “Grigore T. Popa”, 16 University Street, Iasi, Romania
Interests: arrhythmias; atrial fibrillation; left atrium; cardiovascular disease; cardiovascular risk factor; echocardiography; gastroesophageal reflux disease; metabolic associated steato-hepatitis; heart–liver axis
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Prof. Dr. Anca Trifan

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Department of Gastroenterology, “Grigore T. Popa” University of Medicine and Pharmacy, Iasi, Romania
Interests: hepatic fibrosis; steatohepatitis; inflammatory bowel disease; alcoholic liver disease; gastroenterology and hepatology; cardiovascular complications
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Dr. Daniela Maria Tanase

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Department of Internal Medicine, University of Medicine and Pharmacy “Grigore T. Popa”, 16 University Street, Iasi, Romania
Interests: cardiovascular diseases; cardiovascular complications; atherosclerosis; oxidative stress; inflammatory bowel disease; nonalcoholic fatty liver disease; gut microbiota; dysbiosis; type 2 diabetes
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The first and second edition of this Special Issue were completed successfully. We intend to publish a third edition, and so we invite you to submit your research for publication.

First edition: https://www.mdpi.com/journal/life/special_issues/56Z399BE63.

Second edition: https://www.mdpi.com/journal/life/special_issues/3ZTJ8J37B6.

Cardiovascular diseases are a significant cause of death worldwide. Interdisciplinarity has become mandatory in many cardiovascular diseases like hypertension, ischemic heart disease, arrhythmias, congenital heart disease, pericarditis, arrhythmias, or valvular heart disease. The heart team decision has become a common recommendation in cardiology guidelines. Diagnosis and treatment algorithms in cardiovascular disease, therefore, imply interdisciplinary collaboration with gastroenterologists, nephrologists, pulmonologists, neurologists, rheumatologists, hematologists, etc.

Gastroesophageal reflux disease, inflammatory bowel diseases, or metabolic-associated steatohepatitis are some digestive diseases that require a mixed team, namely a cardiologist–gastroenterologist team. These diseases share common physiopathological mechanisms or substrates, and there are, therefore, diagnostic and therapeutic interferences.

Despite the importance of cardiorenal syndrome and cardiac complications of chronic kidney disease or kidney transplantation, the interaction between nephrology and cardiovascular medicine is much broader. Nowadays, there are many advancements in nephrology and cardiovascular medicine, which merge new diagnostic, monitoring, and therapeutic modalities. Patients with acute or chronic kidney disease have pathologies like ischemia, dyslipidemia, or hypertension, which require interdisciplinary collaboration with the cardiologist. Nephrocardiology or cardionephrology, defined as the interaction between nephrology and cardiovascular medicine, is the multidirectional interplay of cardiovascular diseases and nephrology-related conditions.

Respiratory medicine and cardiac pathology share multiple comorbidities such as pulmonary hypertension, pulmonary embolism, and COPD. The cardiovascular and respiratory systems share common physiological and pathophysiological mechanisms and complications. The recent COVID-19 pandemic is the best example of the interdisciplinarity between cardiologist and pulmonologist.

Beyond frequent interferences between cardiology with gastroenterohepatology, nephrology, or respiratory medicine, there are many others, like metabolic, endocrinology, or hematology disease, which share common risk factors, comorbidities, and complications.

To conclude, the heart team concept brings to the forefront the need for interdisciplinarity collaboration in cardiology. Liver–heart, bowel–heart, brain–heart, or kidney–heart axes might explain the pathophysiologic interferences and the multiples clinical consequences. Therefore, the prevention, diagnosis, and therapy of cardiovascular diseases increasingly involve collaboration with other specialties for the best decisions for our patients. In addition, interdisciplinarity in cardiovascular disease might create new algorithms from diagnostic or therapeutic points of view in some cardiovascular diseases.

Prof. Dr. Mariana Floria
Prof. Dr. Anca Trifan
Dr. Daniela Maria Tanase
Guest Editors

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Keywords

interdisciplinarity team
cardiovascular diseases
cardiovascular complications
gastro-esophago-enterology and hepatology
metabolic-associated steato-hepatitis
gut microbiota
nephrocardiology
pulmonary diseases
rheumatology diseases
endocrinology diseases

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Published Papers (9 papers)

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Research

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11 pages, 1731 KiB

Open AccessArticle

Prognostic Impact of Right Ventricular Damage Markers on CT in Patients Undergoing TAVI

by Veysel Özgür Barış, Özkan Karaca, Murat Harman, Fatih Poyraz, Fatma Köksal, Alperen Öztürk, Emin Erdem Kaya, Murat Kaya, Mehmet Ballı and Mehmet Ali Kobat

Life 2025, 15(7), 1020; https://doi.org/10.3390/life15071020 - 26 Jun 2025

Viewed by 280

Abstract

Background: In patients undergoing surgical aortic valve replacement due to severe aortic valve stenosis (AS), the presence of right ventricular damage markers (RVDMs) determined by echocardiography is a poor prognostic indicator. However, such data is not available in patient groups who have undergone transcatheter aortic valve replacement (TAVI). The aim of this study is to investigate the prognostic value of RVDM determined by computed tomography (CT) in a patient group undergoing TAVI. Material and Method: This multicentre, prospective study included 184 patients who underwent TAVI. In basal CT, the pulmonary artery (PA) diameter and right ventricular outflow tract myocardial thickness (RVOTMT) in mid-systole and maximal right and left ventricular diameter (RVD/LVD) ratios in mid-diastole were measured as indicators of RVDM before the TAVI procedure. The primary endpoint of the study was 1-year mortality. Results: The primary endpoint of the study was observed in 42 patients (22%). Among the CT parameters, the PA diameter, RVOTMT, and maximal RVD/LVD ratio were observed to be higher in the mortality group (p < 0.001). In the ROC analysis, a PA diameter of 30.5 and above had a 78% sensitivity and 82% specificity (AUC: 0.87 95% CI 0.82–0.93, p < 0.001), an RVOTMT of 4 mm and above had 90% sensitivity and 87% specificity (AUC: 0.93 95% CI 0.87–0.99, p < 0.001), and a maximal RVD/LVD ratio of 0.91 and above showed 90% sensitivity and 92% specificity (AUC: 0.94 95% CI 0.89–0.99, p < 0.001) to predict one-year mortality. In the Cox regression analysis, the RVOTMT and maximal RVD/ LVD ratios were found to be the best independent parameters showing 1-year mortality. Conclusion: This study showed that RVDMs determined by CT are strong predictors of 1-year mortality in severe AS patients treated with TAVI. Full article

(This article belongs to the Special Issue Interdisciplinarity in Cardiovascular Diseases: From Pathophysiology to Diagnosis and Treatment: 3rd Edition)

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18 pages, 1305 KiB

Open AccessArticle

Multifactorial Risk Stratification in Patients with Heart Failure, Chronic Kidney Disease, and Atrial Fibrillation: A Comprehensive Analysis

by Mihai Sorin Iacob, Nilima Rajpal Kundnani, Abhinav Sharma, Vlad Meche, Paul Ciobotaru, Ovidiu Bedreag, Dorel Sandesc, Simona Ruxanda Dragan, Marius Papurica and Livia Claudia Stanga

Life 2025, 15(5), 786; https://doi.org/10.3390/life15050786 - 14 May 2025

Viewed by 750

Abstract

Background: Heart failure (HF), chronic kidney disease (CKD), and atrial fibrillation (AF) frequently coexist, forming a high-risk triad that amplifies morbidity and mortality through shared pathophysiological mechanisms such as neurohormonal activation, fluid overload, and inflammation. Current risk stratification tools, including CHA₂DS₂-VASc and HAS-BLED, inadequately capture the complexity of these multimorbid patients. This study aims to explore the influence of comorbidities, hypertension severity, anticoagulation strategy, and risk scores on hospitalization outcomes in patients with coexisting HF, CKD, and AF. Materials and Methods: A retrospective case study was conducted on 174 hospitalized patients with HF, CKD, and AF. Clinical data included hypertension grade, HF phenotype (HFpEF vs. HFrEF), NYHA classification, renal function (KDIGO stage), stroke and bleeding risk scores (CHA₂DS₂-VASc: congestive heart failure, hypertension, age ≥ 75, diabetes, and stroke/TIA; HAS-BLED: hypertension, abnormal renal/liver function, stroke, bleeding, labile INR, elderly, and drugs/alcohol), comorbidities (neurological, psychiatric, COPD, and diabetes), anticoagulation type (DOACs vs. VKAs), and length of hospital stay. Statistical analysis included Spearman correlation, independent t-tests, and multivariate regression to evaluate associations between variables and clinical outcomes. Results: Most patients were elderly (mean age 75 ± 12), with advanced CKD (stage 3b) and systolic HF (77% HFrEF). Mean CHA₂DS₂-VASc was 5.67, HAS-BLED was 4.40, and ATRIA was 4.74, indicating high stroke and bleeding risk. Anticoagulation was predominantly via DOACs (69.5%). Hypertension severity did not significantly correlate with NYHA class (ρ = −0.14, p = 0.068). Neurological, psychiatric, and metabolic comorbidities showed no significant associations with HF severity. COPD and diabetes correlated inversely with CHA₂DS₂-VASc scores (ρ = −0.83, p = 0.014). No significant differences were observed in hospital stay between HF phenotypes or prior stroke history. In-hospital mortality was low (2.3%). Conclusions: Traditional risk scores do not fully capture the complexity of multimorbid patients. Metabolic comorbidities showed an inverse correlation with stroke risk scores, and no significant correlation was observed between hypertension severity and HF symptom burden. Hypertension and common comorbidities did not correlate with HF symptom burden, and metabolic diseases may paradoxically associate with lower stroke risk scores. These findings highlight the need for improved multimodal risk assessment strategies that consider the heterogeneity of multimorbid populations. Personalized, integrated approaches are essential to optimize anticoagulation, reduce hospitalization, and improve prognosis. Full article

(This article belongs to the Special Issue Interdisciplinarity in Cardiovascular Diseases: From Pathophysiology to Diagnosis and Treatment: 3rd Edition)

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12 pages, 505 KiB

Open AccessArticle

Decreased Serum Decorin Levels Are Correlated with Aortic Stiffness as Assessed Using Carotid–Femoral Pulse Wave Velocity in Patients with Peritoneal Dialysis

by Yahn-Bor Chern, Po-Yu Huang, Yu-Li Lin, Chih-Hsien Wang, Jen-Pi Tsai and Bang-Gee Hsu

Life 2025, 15(4), 541; https://doi.org/10.3390/life15040541 - 26 Mar 2025

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Abstract

In patients on chronic peritoneal dialysis (PD), aortic stiffness (AS) is a common cardiovascular condition that can predict cardiovascular events and mortality. Decorin is a small leucine-rich proteoglycan that plays a vital role in extracellular matrix organization and vascular remodeling. The relationship between decorin and AS in patients with PD remains unclear. We enrolled 140 patients on PD and collected their demographic, anthropometric, and biochemical data. Serum decorin levels were measured using enzyme-linked immunosorbent assay. Based on carotid–femoral pulse wave velocity (cfPWV), a diagnosis of AS was established in 42 patients (30%), who were found to be of advanced age and showed higher prevalence rates of systolic blood pressure, diabetes, hypertension, triglyceride, fasting glucose, and lower decorin levels, compared with those who had no AS. After proper adjustment for confounding factors in the multivariable logistic regression model, AS development was associated with decorin, age, and triglyceride levels. Multivariable linear regression analysis showed that decorin, when subjected to logarithmic transformation, can be viewed as a significant independent predictor of cfPWV (β = −0.289; p < 0.001). Low decorin level was significantly and independently associated with AS in patients undergoing chronic PD. Full article

(This article belongs to the Special Issue Interdisciplinarity in Cardiovascular Diseases: From Pathophysiology to Diagnosis and Treatment: 3rd Edition)

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13 pages, 1974 KiB

Open AccessArticle

NT-proBNP in Acute De Novo Heart Failure: A Key Biomarker for Predicting Myocardial Recovery—COMFE Registry

by Raquel López-Vilella, Inés Gómez-Otero, Víctor Donoso Trenado, David García-Vega, Óscar Otero-García, Luis Martínez Dolz, José Ramón González-Juanatey and Luis Almenar Bonet

Life 2025, 15(4), 526; https://doi.org/10.3390/life15040526 - 23 Mar 2025

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Abstract

This study aims to analyze whether NT-proBNP at admission and discharge in de novo heart failure (HF) with reduced ejection fraction (HFrEF) is associated with myocardial recovery. This is a prospective observational study in two centers. Patients admitted with de novo HFrEF between 2021 and 2023 were included. HF with improved ejection fraction (HFimpEF) was defined as an improvement of at least 10 points with an ejection fraction >40%. Of the 248 patients who were included, 63.3% met HFimpEF criteria at follow-up, with no differences in age or gender. There were no differences in NT-proBNP at admission, but there were at discharge, where its value was inversely associated with myocardial recovery (OR 0.99 for each increase in the square root of NT-proBNP, 95% CI 0.98–0.99, p = 0.048). An NT-proBNP > 10,000 pg/mL at discharge was independently associated with reduced ventricular recovery (OR 0.28, 95% CI 0.07–0.94, p = 0.043). A smaller reduction in NT-proBNP during admission decreased the probability of recovery (OR 0.13, 95% CI 0.03–0.61, p = 0.010). In conclusion, in admissions for de novo HFrEF, NT-proBNP at discharge is inversely associated with myocardial recovery; a level > 10,000 pg/mL is an independent predictor for a lack of recovery, while a greater reduction increases the likelihood of recovery. Full article

(This article belongs to the Special Issue Interdisciplinarity in Cardiovascular Diseases: From Pathophysiology to Diagnosis and Treatment: 3rd Edition)

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14 pages, 1426 KiB

Open AccessArticle

Predictive Factors of Non-Elevation of Carcinoembryonic Antigen 125 in Acute Heart Failure

by Raquel López-Vilella, Francisco González-Vílchez, Borja Guerrero Cervera, Víctor Donoso Trenado, Zoser Saura Carretero, Julia Martínez-Solé, Sara Huélamo Montoro, Luis Martínez Dolz and Luis Almenar Bonet

Life 2025, 15(3), 494; https://doi.org/10.3390/life15030494 - 18 Mar 2025

Cited by 1 | Viewed by 1475

Abstract

This study aims to analyze the factors associated with the lack of carbohydrate antigen 125 (CA-125) elevation in cases of acute heart failure (HF) decompensation. This retrospective study was conducted on 3167 consecutive patients admitted for acute HF in the cardiology department of a referral hospital (June 2019 to June 2024). Admissions from outpatient clinics (n: 1018) and transfers from other hospitals (n: 752) were excluded. The variables of interest included clinical, echocardiographic, therapeutic, and analytical factors. Low CA-125 levels were defined as values ≤ 50 U/mL. A total of 1397 patients were included, of whom 515 had normal CA-125 levels and 882 had elevated levels. Clinically, independent predictors of low CA-125 were sinus rhythm on electrocardiogram (OR: 1.42, 95% CI: 1.12–1.64; p: 0.003) and sleep apnea–hyponpnea syndrome (OR: 1.76, 95% CI: 1.15–2.70; p: 0.009). Echocardiographically, inferior vena cava collapse greater than 50% with inspiration was associated with low CA-125 (OR: 1.78, 95% CI: 1.19–2.69; p = 0.005), as well as with non-severe right ventricular dysfunction. (OR: 2.42; IC95%: 1.39–4.20; p: 0.002). Analytically, elevated NT-proBNP levels were associated with elevated CA-125 levels (OR: 0.99; IC95%: 0.99–0.99; p: 0.006). Survival was higher in the group with CA-125 ≤ 50 U/mL (p: 0.019). Conversely, as CA-125 values increased, mortality also rose. In conclusion, the absence of CA-125 elevation in patients admitted for acute HF is associated with sinus rhythm, sleep apnea–hyponpnea syndrome, low NT-proBNP levels, and inferior vena cava collapse greater than 50% with inspiration. Full article

(This article belongs to the Special Issue Interdisciplinarity in Cardiovascular Diseases: From Pathophysiology to Diagnosis and Treatment: 3rd Edition)

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11 pages, 619 KiB

Open AccessArticle

The Risk of Ischemic Stroke in Patients with Chronic Obstructive Pulmonary Disease and Atrial Fibrillation

by Hsien-Lung Tsai, Chih-Chun Hsiao, Yu-Hsuan Chen, Wu-Chien Chien, Chi-Hsiang Chung, Chun-Gu Cheng and Chun-An Cheng

Life 2025, 15(2), 154; https://doi.org/10.3390/life15020154 - 22 Jan 2025

Cited by 1 | Viewed by 1175

Abstract

Background: Atrial fibrillation (AF) and ischemic stroke (IS) are intricately linked to chronic obstructive pulmonary disease (COPD). Patients who suffer from both COPD and AF demonstrate a 2.85-fold greater risk of IS. However, the long-term risk remains insufficiently explored. Methods: This study utilized data from the Taiwanese National Health Insurance dataset spanning 2000 to 2015. Patients who were newly diagnosed with COPD, identified using the International Classification of Disease, Ninth Revision, Clinical Modification [ICD-9-CM] codes of 491, 492, and 496 and diagnosed with AF (ICD-9-CM code 427.3), were included in the study. The measured events included ISs (ICD-9-CM codes 433–437). Multivariate Cox proportional hazard models were employed to evaluate IS risk factors in this longitudinal analysis. Results: The combined presence of COPD and AF increased the risk of IS, with an adjusted hazard ratio of 5.722 (95% CI: 2.737–8.856, p < 0.001), AF without COPD with an adjusted HR of 3.506 (95% CI: 1.459–5.977, p < 0.001), and COPD with AF with an adjusted HR of 2.215 (95% CI: 1.099–3.538, p < 0.001) compared with patients without COPD and AF. Elderly patients exhibited a greater burden of cardiovascular comorbidities, including obstructive sleep apnea, thus further compounding the risk of IS. Conclusions: The coexistence of COPD and AF was associated with a markedly elevated risk of IS. The result highlights the additive and synergistic contributions of COPD and AF to the risk for IS. Aggressive treatment may mitigate the risk of IS. Full article

(This article belongs to the Special Issue Interdisciplinarity in Cardiovascular Diseases: From Pathophysiology to Diagnosis and Treatment: 3rd Edition)

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Review

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16 pages, 778 KiB

Open AccessReview

The Junction of Allergic Inflammation and Atherosclerosis: Pathways and Clinical Implications—A Review

by Mihaela Valcovici, Mihai Sorin Iacob, Abhinav Sharma, Ana Maria Pah, Lucretia Marin-Bancila, Marcel Mihai Vaduva Berceanu, Milan Daniel Velimirovici, Anca-Raluca Dinu, Simona Ruxanda Drăgan and Nilima Rajpal Kundnani

Life 2025, 15(6), 964; https://doi.org/10.3390/life15060964 - 16 Jun 2025

Viewed by 688

Abstract

Background: Cardiovascular disorders, especially atherosclerosis, have been associated with allergic inflammation. In addition to traditional inflammatory responses, there is evidence that the development and instability of coronary artery plaque may be influenced by effector cells of allergic inflammation. This review examines the phases of allergic pathology, the immunological mechanisms of atherosclerosis, and the clinical link between allergic diseases (asthma, atopic dermatitis, allergic rhinitis, and food allergy) and cardiovascular disease (CVD), along with future therapeutic perspectives. Material and Method: A literature search was conducted in PubMed, Google scholar; ScienceDirect, Scopus, and studies published between 2014–2024 were taken into consideration. Keywords included allergic inflammation, eosinophils, mast cells, reactive oxygen species, atherosclerosis, Th2 cells, and cytokines. Epidemiological studies and review articles were included. Results: Emerging evidence suggests that allergic inflammation contributes to atherosclerosis through interconnected mechanisms such as eosinophil activation, reactive oxygen species production, mast cell degranulation, and endothelial dysfunction. Th2-driven immune responses, which are mediated by cytokines such as IL-4, IL-5, and IL-13, as well as eosinophil activity and mast cell degranulation, play a crucial role in vascular inflammation and plaque progression. Additionally, changes in lipid metabolism contribute to this process. Epidemiological studies support this connection, indicating that patients with chronic allergic conditions such as asthma, allergic rhinitis, food allergy, and atopic dermatitis experience increased cardiovascular morbidity. However, most current data are observational, and our understanding of the underlying mechanisms in humans remains limited, often relying on insights gained from preclinical models. Conclusions: A potential mechanism for cardiovascular risk is suggested by the interaction between atherosclerosis and allergic inflammation. Promising alternatives for treating allergic inflammation and cardiovascular issues include novel treatments like cytokine inhibitors, mast cell stabilizers, and biologics that target certain pathways. Further research is necessary to see whether concentrating on allergy pathways could lead to innovative treatments for cardiovascular disorders or vice versa. Full article

(This article belongs to the Special Issue Interdisciplinarity in Cardiovascular Diseases: From Pathophysiology to Diagnosis and Treatment: 3rd Edition)

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20 pages, 4062 KiB

Open AccessReview

Veno-Arterial Extracorporeal Membrane Oxygenation in Cardiotoxic Drug-Induced Cardiogenic Shock: A Systematic Narrative Review

by Debora Emanuela Torre, Domenico Mangino and Carmelo Pirri

Life 2025, 15(6), 925; https://doi.org/10.3390/life15060925 - 9 Jun 2025

Viewed by 577

Abstract

Background: Severe poisoning can lead to catastrophic cardiovascular collapse, often progressing to multiorgan failure and death. While intensive supportive care and pharmacological intervention remain the cornerstone of management, cases of refractory cardiogenic shock, particularly those caused by membrane stabilizing agents and calcium channel blockers, pose a significant therapeutic challenge. Extracorporeal membrane oxygenation (ECMO) has emerged as a potential life-saving intervention in critically ill patients. This review examines the feasibility, clinical outcomes, and optimal indications for ECMO in the management of drug-induced cardiogenic shock. Methods: A systematic narrative review was conducted to evaluate the current evidence of ECMO use in poisoning-related cardiovascular failure, with a particular focus on patient selection criteria and the prognostic determinants of therapeutic resistance. Results: Extracorporeal membrane oxygenation may serve as a crucial hemodynamic support strategy in drug-induced circulatory collapse. Most reported cases involve peripheral ECMO, demonstrating variable but promising survival outcomes. Conclusions: Despite its potential to rescue patients from otherwise fatal toxic cardiomyopathy, the role of ECMO remains incompletely defined. Further prospective studies are essential to refine patient selection criteria and identify the toxicant-specific predictors of therapeutic failure. A deeper understanding of these factors may enhance clinical decision making and improve survival rates in severe poisoning cases. Full article

(This article belongs to the Special Issue Interdisciplinarity in Cardiovascular Diseases: From Pathophysiology to Diagnosis and Treatment: 3rd Edition)

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Other

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11 pages, 1209 KiB

Open AccessCase Report

Transcatheter Aortic Valve Implantation in Alkaptonuria-Аssociated Severe Aortic Stenosis: A 2.5-Year Follow-Up Case Report and Literature Review

by Spas Kitov, Maria-Florance Kitova, George Goranov, Krasimir Kraev, Maria Kraeva and Lyudmila Kitova

Life 2025, 15(5), 737; https://doi.org/10.3390/life15050737 - 2 May 2025

Viewed by 474

Abstract

Introduction: Alkaptonuria is an autosomal-recessive disorder affecting the metabolism of tyrosine and phenylalanine which results in accumulation of homogentisic acid in connective tissues. The joints are most commonly affected, while the most common cardiac damage is aortic valve stenosis. The treatment focuses on reducing the symptoms. Aortic stenosis in alkaptonuria is treated with surgical aortic valve replacement; however, transcatheter aortic valve implantation procedures are increasing in number with excellent outcomes. Case presentation: We report a case of a 67-year-old female with chronic back pain and large-joint arthralgia, who was recently diagnosed with alkaptonuria. She reported a long-known heart murmur and intermittent dark-brown staining of her underwear since childhood. Bilateral dark-brown pigmentation of the sclera and both ear cartilages were visualised. ECG confirmed atrial fibrillation and left ventricular hypertrophy. Cardiac ultrasonography showed severe aortic stenosis, reduced global longitudinal strain and preserved ejection fraction. According to the latest recommendations, the choice between surgical and transcatheter intervention must be based upon careful evaluation of clinical, anatomical and procedural factors by the Heart Team, weighing the risks and benefits of each approach for an individual patient. The advantages and disadvantages of both procedures were explained to the patient. It was emphasised that the genetic disease present has no etiopathogenetic definitive treatment and the pigment may continue to deposit on the biological valve (in transcatheter aortic valve implantation) and less likely on the mechanical valve prosthesis (in Surgical Aortic Valve Replacement), highlighting the fact that in the literature worldwide, there are only single reports of ochronosis and severe aortic stenosis. At this stage of knowledge, it is difficult to give the patient clear guarantees when choosing a methodology for performing a valve correction. Along with the standard therapy the patient underwent transcatheter aortic valve implantation with Boston Scientific prosthesis with a very good post-procedural outcome. Conclusions: There is scarce information on transcatheter aortic valve implantation success rate in patients with alkaptonuria. In the population, transcatheter aortic valve implantation outcome is generally good; however, the individual success in alkaptonuria patients depends on the severity of their heart valve damage and overall health. Full article

(This article belongs to the Special Issue Interdisciplinarity in Cardiovascular Diseases: From Pathophysiology to Diagnosis and Treatment: 3rd Edition)

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