scholarly journals Charge Syndrome Hallmarked with Wolff-Parkinson-White Syndrome and Patent Ductus Arteriosus; 20 Years Post-Repairing; An Extreme Combination

Author(s):  
Yasser Mohammed Hassanain Elsayed

Rationale: CHARGE syndrome or Hall-Hittner syndrome is a pleiotropic disorder, in which the name is derived from the abbreviation epitomizing its six clinical criteria: ocular coloboma, cardiac defects, choanal atresia, growth or developmental retardation, genital hypoplasia, and ear anomalies or deafness. Wolff-Parkinson-White syndrome is the most frequent pattern of ventricular pre-excitation. Patent ductus arteriosus is one of the most frequent congenital heart diseases due to failure of closure of the ductus arteriosus within 72 hours of birth. CHARGE syndrome, Wolff-Parkinson-White syndrome, and patent ductus arteriosus are so difficult to be present in a single entity. Patient concerns: A young female girl patient presented to the physician’s outpatient clinic with acute confusion status with a past repaired patent ductus arteriosus. Diagnosis: CHARGE syndrome hallmarked with Wolff-Parkinson-White syndrome and patent ductus arteriosus; 20 years post-repairing. Interventions: Plain chest x-ray, electrocardiography, oxygenation, and echocardiography. Outcomes: A dramatic clinical improvement post-oxygenation had happened. Lessons: CHARGE syndrome with Wolff-Parkinson-White syndrome and repaired patent ductus arteriosus is an extreme combination. The existence of infantile electrocardiographic Tee-Pee sign of hypocalcemia and adult low ionized calcium with CHARGE syndrome is highly suggestive of associated DiGeorge phenotype syndrome. An absence of tachycardia post- repairing of patent ductus arteriosus from 11 mo until the 20th-year-old is a good prognostic sign. The presence of an infantile T-wave alternance will strengthen both the risk of serious arrhythmia and the efficacy of patent ductus arteriosus repairing.

2013 ◽  
Vol 4 (3) ◽  
Author(s):  
Alice I. Supit ◽  
Erling D. Kaunang

Abstract: Congenital heart disease is a structural defect due to the malformation of the heart, aorta, and or great blood vessels. It is the most frequent congenital malformation in newborn babies. Tetralogy of Fallot is one of the congenital heart diseases (CHD) with central cyanosis, and covers 5-10% of all CHD. We reported a boy of one year old with Tetralogy of Fallot and pulmonal atresia (ToF-PA), associated with bronchopneumonia. The diagnosis was based on anamnesis, physical examination, and other supporting examinations. The chest X-ray showed a normal sized heart (CTR 57%) with coer-en-sabot shape, and right and left parahilar infiltration, which resulted in bronchopneumonia and ToF. The electrocardiography showed a right deviation of axis and a hypertrophy of the right ventricle; the echocardiography showed a right ventricle hypertrophy, an over-riding aorta, a large malalignment of the ventricular septal defect, no visualization of pulmonar artery, and no visualization of patent ductus arteriosus (PDA). Conclusion: Based on all the tests performed, the diagnosis of this patient was Tetralogy of Fallot and pulmonal atresia (ToF-PA), associated with bronchopneumonia. The prognosis related to bronchopneumonia in this case was good due to the use of antibiotics. Keywords: tetralogy of Fallot, pulmona atresia, bronchopneumonia.  Abstrak: Penyakit jantung bawaan (PJB) ialah kelainan struktural akibat malformasi jantung, aorta dan atau pembuluh darah besar, dan merupakan kelainan kongenital tersering pada bayi baru lahir. Tetralogi Fallot merupakan salah satu PJB dengan sianosis sentral, dan mencakup 5-10% dari seluruh PJB. Kami melaporkan kasus seorang anak laki-laki berusia satu tahun dengan Tetralogi Fallot dan atresia pulmonal (ToF-PA) disertai bronkopneumonia. Diagnosis ditegakkan melalui anamnesis, pemeriksaan fisik, dan pemeriksaan penunjang. Hasil ekspertisi foto toraks AP memperlihatkan ukuran jantung normal (CTR 57%) berbentuk coer-en-sabot, dan pada paru-paru terlihat infiltrat parahilar kanan dan kiri serta corakan vaskular paru berkurang yang menunjukkan suspek bronkopneumonia dan ToF. Elektrokardiografi memperlihatkan deviasi aksis ke kanan dan hipertrofi ventrikel kanan, dan pada ekokardiografi tampak right ventricle hypertrophy, overriding aorta, VSD malalignment besar, tidak tampak visualisasi arteri pulmonal, dan tidak tampak patent ductus arteriosus (PDA) dengan hasil Tetralogi Fallot dan atresia pulmonal. Simpulan: Berdasarkan hasil pemeriksaan yang dilakukan, diagnosis pasien ini ialah Tetralogi Fallot dan atresia pulmonal (ToF-PA) disertai bronkopneumonia. Prognosis bronkopenumonia pada kasus ini baik yang dapat diatasi dengan antibiotika.Kata kunci: tetralogi Fallot, atresia pulmonal, bronkopneumonia.  


2018 ◽  
Vol 26 (7) ◽  
pp. 756-759 ◽  
Author(s):  
Hua Chun ◽  
Yan Yue ◽  
Yibin Wang ◽  
Zhaxi Dawa ◽  
Pu Zhen ◽  
...  

Background Previous small sample studies suggested that elevated altitudes might be associated with the incidence of cardiovascular diseases. However, it remains uncertain whether high altitudes (over 3000 m above sea level) are related to congenital heart disease. We therefore explored the prevalence of congenital heart disease in a large cohort of students in the world's largest prefecture-level city with the highest altitude. Methods This cross-sectional study included 84,302 student participants (boys 52.12%, girls 47.88%, with an average age of 10.62 ± 3.33 years). Data were extracted from the screening results among different altitude area schools in Nagqu from June 2016 to August 2017. Students were first screened by performing a physical examination consisting of cardiac auscultations and clinical manifestation screenings. An echocardiography was performed to confirm and identify the subtype of congenital heart disease. Results The prevalence of congenital heart disease among students in Nagqu, Tibet, was 5.21‰ (439 cases). The most common congenital heart disease type was patent ductus arteriosus, representing 66.3% of congenital heart diseases diagnosed in this study, followed by atrial septal defect and ventricular septal defect, representing 20.3% and 9.1% of congenital heart diseases, respectively. Students living in higher altitudes were significantly more prone to have congenital heart disease than students in locations with lower altitudes. The prevalence of congenital heart disease in girls was found to be higher than that of boys. Conclusions The correlation between congenital heart disease and increased altitude is noteworthy. This study's results are the first big data epidemiological investigation to confirm that high altitude is a significant environmental risk factor for congenital heart disease, especially patent ductus arteriosus. Furthermore, the results provide additional support to make a diagnostic and treatment plan to prevent congenital heart disease in high altitude areas.


2020 ◽  
Vol 2 (1) ◽  
pp. 18-23
Author(s):  
Devi Ariani ◽  
Isngadi Isngadi

Wanita hamil dengan penyakit jantung bawaan terjadi perubahan hemodinamik peningkatan kardiovaskular, perhatian dan terapi yang khusus dibutuhkan. Penambahan obat opioid meningkatkan dosis anestesi lokal, hemodinamik stabil, meningkatkan efek analgetik. Kasus: Satu, wanita 26 tahun gravida 30–32 minggu, PDA besar L-R shunt, hipertropi konsentrik ventrikel kiri, trivial atrium regurgitasi, pulmonal regurgitasi sedang, trikuspid regurgitasi sedang, pulmonal hipertensi berat, EF 57%. Dua, wanita 22 tahun gravida 37–38 minggu, preterm premature rupture of membrane, PDA besar L-R shunt, pulmonal hipertensi berat, penurunan fungsi sistolik ventrikel kiri, EF 54%, bekas seksio sesarea. Keduanya menggunakan teknik regional anestesi dosis rendah. Pembahasan: Teknik menggunakan combine spinal epidural (CSE) dengan spinal 5 mg bupivacain heavy 0,5% dan fentanyl 50 mcg, epidural bupivacain 0,125% dan fentanyl 30 mcg meningkatkan anestesi untuk seksio sesarea, dan hemodinamik stabil pada pasien kelainan katup. Opioid intratekal mereduksi anestesi lokal dan hipotensi, kemampuan anestesi terjaga. Simpulan: Dosis rendah CSE dengan 5 mg bupivacain heavy 0,5 % dan 50 mcg, dengan epidural bupivacain 0,125% dan fentanyl 30 mcg adekuat untuk pasien seksio sesarea dengan kelainan jantung.   Low-dose Spinal and Epidural Patients for Caesarean Section Patients with Patent Ductus Arteriosus Abstract Pregnant women with congenital heart diseases hemodynamic changes during pregnancy increasing cardiovascular, it’s need attention and special treatment. Opiod addition scan decrease the dose of local anesthetic drugs, prevent hemodynamic fluctuation, increase the analgesia effect. Case: First case, female 26 years with gravida 30-32 weeks with large PDA Left to Right shunt, consentrik left ventrikel hipertrophy, trivial atrium regurgitation, moderate pulmonal regurgitation, moderate tricuspid regurgitation, severe pulmonal hypertension, EF 57%. Second case, female 22 years with gravida 37-38 weeks, PPROM , large PDA Left to Right shunt, pulmonal hypertension severe, function systolic left ventrikel decreasing, EF 54%, former section caesaria. Both of them undergoing section caesaria with low dose regional anesthesia. Discussion: In this case with used CSE with Spinal 5 mg Bupivacaine heavy 0,5 % and fentanyl 50 mcg, Epidural bupivacain 0,125 % and fentanyl 30 mcg provided adequate anaesthesia for section cesarean delivery, and haemodynamic stability in patient with valvular cardiac disease. The synergism between intrathecal opioid sareductionin the dose of local anaesthetic and reduce hypotension, while still maintaining adequate anaesthesia. Conclussion: Low dose CSE with 5 mg bupivacaine heavy 0,5% and fentanyl 50 mcg, and epidural bupivacain 0,125% and fentanyl 30 mcg provided adequate for sectio cesarian patient with cardiac disease, with stable of haemodynamic.


2021 ◽  
Vol 9 (B) ◽  
pp. 208-211
Author(s):  
Putri Amelia ◽  
Rizky Adriansyah ◽  
Bastian Lubis ◽  
Muhammad Akil

BACKGROUND: Patent ductus arteriosus (PDA) is one of the most common acyanotic congenital heart diseases. The incidence of PDA is approximately 1 in 500 full-term neonates. The current management of PDA includes pharmacological and surgical treatments. Transcatheter closure is a preferable PDA treatment than pharmacological intervention, for medications have a higher failure rate in premature infants. Several studies have reported the efficacy and safety of transcatheter closure in smaller and lower-weight infants. AIM: This study aims to describe the outcomes of transcatheter closure of PDA, which are complete closure, migrating device, and residuals, while also investigating factors that might affect these outcomes. METHODS: A descriptive cross-sectional study was conducted from January to March 2018 in the pediatric cardiology outpatient clinic of Haji Adam Malik Hospital, Medan, Indonesia. All PDA patients who underwent transcatheter closure were included in this study. We collected patients’ demographic data (age and sex), PDA size (categorize into large, moderate, and small), and PDA closure outcomes from medical records. The collected data were then analyzed with SPSS. RESULTS: One hundred and two children were included in this study, comprised 34 (33.3%) males and 68 (66.7%) females, with a mean age of 4.3 (±4.02) years old and the mean size of the defects 4.4 (±2.25) mm. Transcatheter closure with Lifetech® PDA Occluder was performed in 95 (93.1%) and MFO® in 7 (6.9%) patients. Small residuals were found in three patients, device migration was found in one patient. No relationship was found between the size of PDA and the outcomes measured. CONCLUSION: We concluded that transcatheter closure remains an effective treatment for PDA, with a considerable success rate.


2012 ◽  
Vol 7 (1) ◽  
pp. 10-12 ◽  
Author(s):  
Chaudhury Meshkat Ahmed ◽  
Sohel Mahmud Arafat ◽  
Muhammad Khaled Hasan ◽  
Abed Hussain Khan ◽  
Lima Asrin Sayami ◽  
...  

Pulmonary artery pressure is one of the most important parameter for evaluating the status of pulmonary vascular bed for patients of PDA, which helps in formulating treatment strategy. This study was carried out in National Institute of Cardiovascular Diseases and Hospital (NICVD) and National Centre for Control of Rheumatic Fever and Heart Diseases, Dhaka, Bangladesh. Pulmonary artery pressure was recorded noninvasively using Doppler echocardiography and the it was correlated with those obtained from haemodynamic studies done at cardiac catheterization. Estimation of pulmonary artery pressure using Doppler derived measurement of pressure gradient across patent ductus arteriosus correlated well with that of simultaneous catheterization measured values. Doppler echocardiography is a cheap, simple, noninvasive bedside test for measuring pulmonary artery systolic and diastolic pressure in patient with PDA. DOI: http://dx.doi.org/10.3329/uhj.v7i1.10202 UHJ 2011; 7(1): 10-12


2017 ◽  
Vol 30 (6) ◽  
pp. 574-577 ◽  
Author(s):  
Eman Mahdi ◽  
Matthew T Whitehead

CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome. The presence of a coronal clival cleft should alert the radiologist to examine the ears, eyes, palate, choana, and olfactory centers for other signs of CHARGE syndrome.


2007 ◽  
Vol 5 (3) ◽  
pp. 0-0
Author(s):  
Sigitas Čibiras ◽  
Rita Sudikienė ◽  
Lina Gumbienė ◽  
Eugenijus Kosinskas

Sigitas Čibiras1, Rita Sudikienė2, Lina Gumbienė1, Eugenijus Kosinskas11 Vilniaus universiteto Širdies ir kraujagyslių ligų klinika, Santariškių g. 2, LT-08661 Vilnius2 Vilniaus universiteto ligoninės Santariškių klinikų Širdies chirurgijos centras,Santariškių g. 2, LT-08661 VilniusEl paštas: [email protected] Įvadas / tikslas Apžvelgiama klinikoje atliktų atviro arterinio latako (AAL) perkateterinio uždarymo naudojant COOK atsiskiriančias spirales septynerių metų patirtis, vertinami rezultatai įvairaus dydžio ir anatominio tipo latakų grupėse. Ligoniai ir metodai Išanalizuoti 75 ligonių, kuriems Vilniaus universiteto Širdies ir kraujagyslių ligų klinikoje nuo 1999 iki 2006 metų atliktas perkateterinis AAL uždarymas penkių apvijų COOK atsiskiriančiomis spiralėmis, duomenys. Procedūrai echokardiografijos metu atrinkti ligoniai, kurių nedidelis AAL (skersmuo < 3 mm). Aprašyta klinikoje naudota AAL uždarymo metodika. Priklausomai nuo AAL dydžio ligoniai suskirstyti į tris grupes, o pagal AAL anatomiją į penkias grupes. Palyginti skirtingų grupių rezultatai. Vertintas nuosrūvis per lataką, jį uždarius iškart po procedūros, po 24 valandų, po vieno, šešių ir dvylikos mėnesių. Rezultatai Pagal AAL anatomiją 59 ligoniai buvo A tipo, aštuoni – C tipo, penki – D tipo, trys – E tipo. Vertinti trijose ligonių grupėse priklausomai nuo AAL dydžio (iki 2 mm, 2–3 mm, > 3 mm). Geriausi rezultatai buvo pirmos ligonių grupės, kai operacinėje AAL užsikimšo 80% atvejų, po 6 mėn. – 87,5%, po vienų metų – 100%. Antros grupės ligonių AAL operacinėje užsikimšo 69%, po vienų metų – 96,6% atvejų. Trečios grupės 50% ligonių AAL užsikimšo operacinėje, 83,3% – po vienerių metų. Išvados Perkateterinis AAL uždarymo COOK spiralėmis būdas laikomas saugia chirurginio gydymo alternatyva, mažiau invazyvus, saugus, ekonomiškas, veiksmingas gydymo metodas. Procedūra yra trumpesnė, greitesnis pasveikimo laikotarpis, yra kosmetinis efektas. Metodas veiksmingas uždarant mažus ir vidutinius AAL (iki 3 mm). Pagrindiniai žodžiai: atviras arterinis latakas, įgimtos širdies ydos, intervencinis perkateterinis gydymas, COOK atsiskiriančios spiralės Patent ductus arteriosus occlusion with detachable COOK coils – seven years of experience Sigitas Čibiras1, Rita Sudikienė2, Lina Gumbienė1, Eugenijus Kosinskas11 Vilnius University, Clinic of Heart and Cardiovascular Diseases,Santariškių str. 2, LT-08661 Vilnius, Lithuania2 Vilnius University Hospital „Santariškių klinikos“, Cardiac Surgery Centre,Santariškių str. 2, LT-08661 Vilnius, LithuaniaE-mail: [email protected] Background / objective Seven years of patent ductus arteriosus (PDA) transcatheter occlusion experience in clinic is reviewed, evaluating results in different PDA size and anatomical type groups. Patients and methods Data of 75 patients that underwent PDA closure with COOK detachable coils at the Vilnius Heart Disease Clinic from 1999 to 2006 were analysed. Patients with a moderate PDA diameter (< 3 mm) were echoscopy-selected for the procedure. The PDA closure method, applied in the clinic is described. According to PDA size, the patients were divided into three groups and according to anatomy into 5 groups. The results in different groups were compared. The shunt was evaluated immediately after closure, after 24 hours, and after 1, 6 and 12 months. Results The angiographic appearance of the ductus was type A in 59, type C in 8, type D in 5, type E in 3 patients. Depending on the PDA diameter, there were three groups of the patients (< 2 mm, 2–3 mm, > 3 mm). The best results were observed in the first group: immediate complete closure was achieved in 80% of cases, after six months in 87.5% and after 1 year in 100%. Conclusions Transcatheter coil occlusion of PDA with COOK detachable coils is a safe alternative to surgical treatment. It is less a invasive and economical method of treatment. The procedure itself is shorter, its results in a shorter convalescence period and has a good cosmetic effect. This technique is effective for small and moderate PDA (to 3 mm). Key words: patent ductus arteriosus, congenital heart diseases, interventional transcatheter therapy, COOK detachable coils


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