Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease

2002 ◽  
Vol 12 (3) ◽  
pp. 304-307 ◽  
Author(s):  
Solomon E. Levin ◽  
Jeffrey R. Harrisberg ◽  
Kenny Govendrageloo
Keyword(s):  
Ventricular Septal Defect ◽  
Cardiac Disease ◽  
Septal Defect ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing ◽  
The Third ◽  
Congenital Cardiac Disease ◽  
Delayed Closure

It is rare to find congenital cardiac disease in association with familial primary hypertrophic osteoarthropathy. We have now encountered three siblings, two of whom had digital clubbing, patent arterial ducts and delayed closure of the cranial fontanels. The third infant was unusual in that there was no clubbing, or cranial abnormality, despite a small ventricular septal defect. To the best of our knowledge, this association has not previously been observed.

scholarly journals Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations

2011 ◽  
Vol 20 (6) ◽  
pp. 531-533 ◽  
Author(s):  
Carsten Bergmann ◽  
Marion Wobser ◽  
Henner Morbach ◽  
Albrecht Falkenbach ◽  
Dietrich Wittenhagen ◽  
...  
Keyword(s):  
Hypertrophic Osteoarthropathy ◽  
Loss Of Function ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing

scholarly journals Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing

2012 ◽  
Vol 132 (10) ◽  
pp. 2473-2476 ◽  
Author(s):  
Jutta Busch ◽  
Valeska Frank ◽  
Nadine Bachmann ◽  
Atoshi Otsuka ◽  
Vinzenz Oji ◽  
...  
Keyword(s):  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing

scholarly journals The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation

2019 ◽  
Vol 8 (6) ◽  
pp. 736-744
Author(s):  
Qianqian Pang ◽  
Yuping Xu ◽  
Xuan Qi ◽  
Yan Jiang ◽  
Ou Wang ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Tumor ◽  
Hypertrophic Osteoarthropathy ◽  
Breast Cancers ◽  
Loss Of Function ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Suppressor Activity ◽  
Digital Clubbing ◽  
Tissue Tumor ◽  
First Case

Background Primary hypertrophic osteoarthropathy (PHO) is a rare genetic multi-organic disease characterized by digital clubbing, periostosis and pachydermia. Two genes, HPGD and SLCO2A1, which encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH) and prostaglandin transporter (PGT), respectively, have been reported to be related to PHO. Deficiency of aforementioned two genes leads to failure of prostaglandin E2 (PGE2) degradation and thereby elevated levels of PGE2. PGE2 plays an important role in tumorigenesis. Studies revealed a tumor suppressor activity of 15-PGDH in tumors, such as lung, bladder and breast cancers. However, to date, no HPGD-mutated PHO patients presenting concomitant tumor has been documented. In the present study, we reported the first case of HPGD-mutated PHO patient with soft tissue giant tumors at lower legs and evaluated the efficacy of selective COX-2 inhibitor (etoricoxib) treatment in the patient. Methods In this study, we summarized the clinical data, collected the serum and urine samples for biochemical test and analyzed the HPGD gene in our patient. Results A common HPGD mutation c.310_311delCT was identified in the patient. In addition to typical clinical features (digital clubbing, periostosis and pachydermia), the patient demonstrated a new clinical manifestation, a giant soft tissue tumor on the left lower leg which has not been reported in HPGD-mutated PHO patient before. After 6-month treatment with etoricoxib, the patient showed decreased PGE2 levels and improved PHO-related symptoms. Though the soft tissue tumor persisted, it seemed to be controlled under the etoricoxib treatment. Conclusion This finding expanded the clinical spectrum of PHO and provided unique insights into the HPGD-mutated PHO.

scholarly journals Pachydermoperiostosis (PDP): A Case Report

2021 ◽  
pp. 1-8
Author(s):  
Abdulameer M. Abu Nailah ◽  
Islam A. M. Abu-Nayla ◽  
Umniyah A. M. Abu-Nayla
Keyword(s):  
Case Report ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing ◽  
Cutis Verticis Gyrata ◽  
Incomplete Form ◽  
Bone Abnormalities ◽  
Primary Form

Abstract Pachydermoperiostosis (PDP) is the primary form of hypertrophic osteoarthropathy which accounts for 5% of all cases of the disorder. It is a rare hereditary disorder that is associated with digital clubbing, polyarthritis, cutis verticis gyrata, Seborrhea, eyelid ptosis, and hyperhidrosis. In this case report, we discussed a case of an incomplete form of primary hypertrophic osteoarthropathy characterised by evidence of bone abnormalities without pachydermia. Keywords: Pachydermoperiostosis, hypertrophic osteoarthropathy, periostosis.

scholarly journals Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings

2019 ◽  
Vol 158 (3) ◽  
pp. 126-132
Author(s):  
Murat Torgutalp ◽  
Ceren D. Durmaz ◽  
Halil G. Karabulut ◽  
Wenke Seifert ◽  
Denise Horn ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Periosteal Reaction ◽  
Homozygous Mutation ◽  
Hypertrophic Osteoarthropathy ◽  
Imaging Findings ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing ◽  
Autosomal Recessive Condition ◽  
Homozygous Mutations ◽  
Hands And Feet

Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. PHO is caused by homozygous mutations in the HPGD gene in chromosome 4q34.1 or the SLCO2A1 gene in 3q22.1q22.2. Here, we report on a 20-year-old male with enlarged and swollen joints with arthralgia, palmoplantar hyperhidrosis, and large hands and feet with marked digital clubbing. We also present radiographic, MRI, and ultrasonographic features of the case. These clinical and imaging findings were compatible with the diagnosis of PHO, and a novel homozygous mutation, c.576C>G, p.Ile192Met, was found in SLCO2A1.

Di George Anomaly and Velocardiofacial Syndrome

PEDIATRICS ◽  
1990 ◽  
Vol 85 (4) ◽  
pp. 526-530
Author(s):  
Cathy A. Stevens ◽  
John C. Carey ◽  
Ann O. Shigeoka
Keyword(s):  
Ventricular Septal Defect ◽  
Cleft Palate ◽  
Septal Defect ◽  
Autosomal Dominant ◽  
Velocardiofacial Syndrome ◽  
Facial Features ◽  
Cardiac Defects ◽  
Cell Dysfunction ◽  
The Third ◽  
T Cell Dysfunction

The velocardiofacial syndrome is an autosomal dominant disorder characterized by cleft palate, cardiac anomalies, characteristic facies, and learning disabilities. The Di George anomaly involves developmental defects of the third and fourth pharyngeal pouches, resulting in thymic and parathyroid hypoplasia and cardiac defects. The cases of individuals in two families help substantiate the notion that the Di George anomaly occurs as a feature of the velocardiofacial syndrome. The proband in family 1 was a male infant with persistent hypocalcemia and cardiac defects consisting of truncus arteriosus, atrial septal defect, ventricular septal defect, and abnormal aortic arch vessels. Autopsy revealed absence of thymic and parathyroid tissue, and the Di George anomaly was diagnosed. His father had a submucous cleft palate, T cell dysfunction, and facial features consistent with the velocardiofacial syndrome. This is the third case of male-to-male transmission of velocardiofacial syndrome. The proband of family 2 was a 4-year-old girl with developmental delay, persistent neonatal hypocalcemia, ventricular septal defect, T cell dysfunction, and facial features of the velocardiofacial syndrome. The Di George anomaly has been reported to occur in at least 18 different disorders. The observation that the Di George anomaly is a component manifestation of the velocardiofacial syndrome in these two families provides further evidence that the Di George anomaly is not a distinct syndrome of a single origin but rather a heterogeneous developmental field defect. It is proposed that all previously reported cases of autosomal dominant Di George anomaly are examples of the velocardiofacial syndrome.

Congenital cardiac disease in children with Down's syndrome in Guatemala

2005 ◽  
Vol 15 (3) ◽  
pp. 286-290 ◽  
Author(s):  
Vladimiro L. Vida ◽  
Joaquín Barnoya ◽  
Luis A. Larrazabal ◽  
Guillermo Gaitan ◽  
Flor de Maria Garcia ◽  
...  
Keyword(s):  
Cardiac Disease ◽  
Septal Defect ◽  
Down's Syndrome ◽  
Epidemiologic Study ◽  
Down’S Syndrome ◽  
The United States ◽  
Cardiac Malformations ◽  
Arterial Duct ◽  
Congenital Cardiac Malformation ◽  
Congenital Cardiac Disease

Background:Congenital cardiac disease is the greatest cause of death in patients with Down's syndrome during the first two years of life, with from two-fifths to two-thirds of those with Down's syndrome also having congenital cardiac malformations. The lesions within the heart can be single or multiple. Our objective was to evaluate the frequency and type of such congenital cardiac malformations in patients born with Down's in Guatemala, and to provide baseline information for further research.Methods:We reviewed all patients with Down's syndrome who underwent a cardiologic screening examination between January, 1997, and December, 2003, in the only department dealing with Paediatric Cardiology in Guatemala.Results:Of the 349 patients reviewed, 189 (54.1 per cent) also had an associated congenital cardiac malformation. The median age at diagnosis was 6 months, with a range from 2 to 13 months. In 152 patients (80.4 per cent), the cardiac lesion was isolated, while 37 patients (19.6 per cent) had multiple defects. The most common single defect was patency of the arterial duct, found in 54 of the 189 patients (28.6 per cent), followed by ventricular septal defect in 27.5 per cent, atrial septal defect in 12.7 per cent, and atrioventricular septal defect with common atrioventricular junction in 9.5 per cent. The most frequent concomitant malformation found co-existing with other congenital cardiac lesions was patency of the arterial duct, found in 17.5 per cent.Conclusions:As far as we are aware, ours is the first epidemiologic study concerning the frequency and type of congenital cardiac disease found in Guatemalan children with Down's syndrome. The high frequency of patency of the arterial duct, and the differential distribution of the cardiac malformations associated with Down's syndrome among Guatemalan children, differ from what has been reported in the United States of America, Europe, and Asia. This difference warrants further research.

scholarly journals Enhanced Bundled Interventions to Reduce Surgical Site Infections for Patients with Congenital Cardiac Disease

2020 ◽  
Vol 41 (S1) ◽  
pp. s212-s213
Author(s):  
Ibukunoluwa C. Akinboyo ◽  
Sharah Collier ◽  
Kelly Ellington ◽  
Jennifer Turi ◽  
Rebecca R. Young ◽  
...  
Keyword(s):  
Cardiac Disease ◽  
Statistical Significance ◽  
Surgical Site Infections ◽  
Mortality Data ◽  
Environmental Cleaning ◽  
Targeted Interventions ◽  
Pediatric Ct ◽  
Published Evidence ◽  
Congenital Cardiac Disease ◽  
Delayed Closure

Background: Surgical site infections (SSIs) among cardiothoracic (CT) patients are associated with high rates of morbidity and mortality. Data are limited regarding SSI incidence among pediatric patients undergoing primary reparative procedures for congenital cardiac disease. Published evidence on targeted interventions to prevent pediatric CT-surgery SSI is lacking. We aimed to establish standard metrics for measuring CT-surgery SSI incidence and to implement bundled interventions for SSI prevention. Methods: A dedicated CT-surgery SSI prevention workgroup was established, consisting of hospital leadership, CT surgeons, cardiac critical care unit staff, anesthesia, perfusion, environmental services, instrument sterile processing, risk management, infection prevention and antibiotic stewardship. We created a standard definition for CT-surgery SSI and calculated retrospective SSI rates over a 24-month period (2017–2019). The outcome measured was incidence of CT-surgery SSI per 100 primary cardiac procedures with delayed ( 3 days after primary surgery) or non-delayed chest closure. The difference in proportion of SSI was reported separately for delayed closure and non-delayed closure; statistical significance was tested using a Fisher’s Exact test. We identified many potential improvement opportunities, including gaps in SSI surveillance, poor compliance with daily bathing, inconsistent perioperative antimicrobial prophylaxis, lack of controlled environment for bedside chest closures, and lapses in environmental cleaning. These issues informed the enhanced SSI prevention bundle, which included education on sterility with the operating room (OR) staff. Protocols for care of cardiac patients with delayed chest closures focused on universal daily and preoperative chlorhexidine baths. In addition, the bundle incorporated stringent environmental cleaning interventions including scheduled decluttering of patient rooms and clinical spaces, terminal cleaning of patient rooms prior to returning from the OR, and use of adjunctive ultraviolet light for the daily cleaning of operating rooms and patient rooms at discharge. Results: Surveillance definition of microbiological growth from a clinical sample obtained within 30 days of primary cardiac procedure sufficiently captured all CT-surgery SSIs. Of 551 CT-surgery procedures prior to intervention, 91 (17%) had delayed final operative closures. Prior to the intervention, 16 SSIs were identified from July 2017 – May 2019 for a rate of 2.90 per /100 procedures, and was higher among patients with delayed chest closure 6.59 per /100 procedures (6 SSIs/91 procedures) versus those with primary chest closure 2.17 per /100 procedures (10 SSIs/460 procedures; P = 0.034). Gram-positive organisms, including coagulase coagulase-negative Staphylococci, were most frequently identified as the causative organisms for SSIs. Compliance with bundled intervention, rolled out over a 2-month period, was associated with an immediate decrease in the number of SSIs for primary and delayed chest closures 6SSIs /185 procedures in the initial quarters (August – December 2019) of the post-intervention period. However, this decrease was not reflected in the overall rate (3.24 per /100 procedures) due to fewer procedures performed. Data collection to measure sustainability is ongoing. Conclusions: Bundled interventions targeting skin antisepsis and environmental cleaning may be associated with a decrease in SSIs among pediatric CT-surgery patients. Ongoing surveillance is required to determine sustainability of these interventions.Funding: NoneDisclosures: None

scholarly journals Transpercutaneous closure of perimembranous ventricular septal defects by symmatric occluder

2021 ◽  
Vol 35 ◽  
pp. 100-106
Author(s):  
Nguyen Cong Ha ◽  
Tran Dac Long ◽  
Nguyen Quoc Hung
Keyword(s):  
Clinical Trial ◽  
Cardiac Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Av Block ◽  
Ventricular Septal Defects ◽  
Cardiac Intervention ◽  
Septal Defects ◽  
Congenital Cardiac Disease

Background: Ventricular septal defect ( VSD ) is the most frequently occurring congenital cardiac disease, accounts nearly 15-30% of all cases. Surgery is still the corrective therapy with high success and low complication but having some problems with: cardiopulmonary bypass, anesthesia, ICU, sternalitis, chest scar, AV block... Recently many progress in cardiac intervention applied to treat congenital heart disease especially percutaneous VSD closure. Currently patients with VSD have other choice to cure safely, effectively and less complication. Objectives: To evaluate 12 months rusults from transpercutaneous closure of perimembranous VSD by modified double – disk symmatric devices ( symmatric occluder). Methods: This is the descriptive clinical trial and follow-up. Result: 41 patients selected by echocardiography, 37 patients were closed successfully (90,2% success rate). No significant complication (AVB…) and  1 patient nonsignificant shunt is 2.7% after 12 month follow-up. Conclusions: Transpercutaneous closure of perimembranous VSD by symmatric occluder is effective and safe and more, longer follow-up.

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