Results 41 to 50 of about 56,190 (258)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Intimal spindle cell sarcoma masquerading as adult-onset symptomatic pulmonic stenosis: a case report and review of the literature

Journal of Cardiothoracic Surgery, 2017
Background Pulmonary artery intimal spindle cell sarcomas are rare and carry with them a poor prognosis and high rate of recurrence. In extremely rare cases, this tumor can infiltrate the pulmonic valve and manifest as adult-onset pulmonic stenosis. Case
Arun Manmadhan, Sunil P. Malhotra, Catherine R. Weinberg, Alex Reyentovich, Larry A. Latson, Puneet Bhatla, Muhamed Saric   +6 more
doaj   +1 more source

Preoperative Pulmonary Artery Systolic Pressure and Survival in Patients Undergoing Valve Replacement for Mitral Stenosis [PDF]

Introduction: High pulmonary artery pressure (PAP) is a critical survival parameter in patients with severe mitral stenosis. We investigated changes in PAP and their impact on survival in patients undergoing mitral valve replacement for severe mitral ...
Ömer Faruk Rahman, Selim Durmaz, Fevzi Ayyıldız, Rahman, Ömer Faruk, Ayyıldız, Fevzi, Durmaz, Selım   +5 more
core   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Severe biventricular hypertrophy mimicking infiltrative cardiomyopathy in old man with pulmonary stenosis and systemic hypertension

Indian Heart Journal, 2015
Hypertrophic biventricular cardiomyopathy is a rare finding and generally caused by systemic infiltrative diseases. Its association with pulmonary stenosis in same patient is even rarer.
Süleyman Çağan Efe, Gokhan Kahveci, Ruken Bengi Bakal, Suzan Hatipoğlu Akpinar, Tuba Unkun, Nihal Ozdemir   +5 more
doaj   +1 more source

Balloon Valvuloplasty for Pulmonary Valve Stenosis

Journal of Interventional Cardiology, 1995
Balloon valvuloplasty for pulmonary valve stenosis by static dilation is the treatment of choice for the treatment of isolated valvular pulmonary stenosis in the infant, child, and adolescent. The procedure is also effective in neonates; however, the complications of the procedure are significantly higher and the efficacy is less.
R T, Fedderly, R H, Beekman
openaire   +2 more sources

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Periodontitis and atherosclerotic cardiovascular disease: A critical appraisal

Periodontology 2000, EarlyView., 2023
Abstract In spite of intensive research efforts driving spectacular advances in terms of prevention and treatments, cardiovascular diseases (CVDs) remain a leading health burden, accounting for 32% of all deaths (World Health Organization. “Cardiovascular Diseases (CVDs).” WHO, February 1, 2017, https://www.who.int/news‐room/fact‐sheets/detail ...
Maria Clotilde Carra, Hélène Rangé, Giuseppina Caligiuri, Philippe Bouchard   +3 more
wiley   +1 more source

Pulmonary Valve Replacement Using an Intraoperatively Created Trileaflet Autologous Pericardial Valve: A Case Series [PDF]

Iranian Journal of Medical Sciences
Background: Pulmonary valve replacement is inevitable for the majority of patients with long-standing pulmonary regurgitation. The purpose of this study was to describe the experience of employing a novel technique to create an intraoperatively handmade ...
Ahmad Ali Amirghofran, Kamran Jamshidi, Mohammadreza Edraki, Gholamhossein Ajami, Hamid Amoozgar, Mohammadreza Sabri, Hamid Arabi, Elahe Nirooie, Mohammad Kasaie, Rahim Hemmati, Mina Amiri   +10 more
doaj   +1 more source