Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Jarcho Levin syndrome is a rare genetic disorder characterized by multipl vertebral and costal anomalies at birth. Jarcho Levin syndrome includes two phenotypic groups: spondylothoracic dysostosis and spondylocostal dysostosis. The prognosis of spondylothoracic dysostosis has worse than spondylocostal dysostosis, because of respiratory complications. Associated malformations include those of the congenital heart disease, urogenital malformation, skeletal anomalies and neural tube defects. We present a patient with spondylocostal dysostosis, who also had type I split cord malformation, tethered cord, scoliosis and double nipple on the right. Although the association of spondylocostal dysostosis and type I split cord malformation is very rare, double nipples on one side is no previously reported.
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PMID:Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report. 2354 15

While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.
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PMID:A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation. 2371 47

Spondylocostal dysostosis (SCD) is a very rare syndrome characterized by vertebral malformation and rib deformity. Some of the patients with SCD have other birth defects in the central nervous system, the genitourinary tract, diaphragm or heart and so forth. There have been reported SCD with complex congenital heart disease, such as pulmonary atresia, double outlet right ventricle, and d-transposition of great arteries. However, there have been no reported SCD patients with confirmed tetralogy of Fallot (TOF). Here, a patient with SCD having a very rare combination of rib defects on the right side and left-sided scoliosis, tetralogy of Fallot, and diaphragmatic spleen herniation, which had not been reported before, was described.
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PMID:Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm. 2466 13

A rare case of Jarcho Levin syndrome (JLS) presenting as a lethal progressive respiratory insufficiency in early neonatal period is reported. The neonate had classical features of this syndrome including vertebral segmentation defects, typical costo-vertebral fusion defects and scoliosis resulting in small thoracic volume and limited chest expansion; all consistent with a clinical diagnosis of JLS with thoracic insufficiency. In addition, our case had a rare association of dextrocardia and acyanotic congenital heart disease.
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PMID:Lethal progressive thoracic insufficiency in a neonate due to jarcho levin syndrome. 2474 43

Cantrell's pentalogy (CP) is a rare syndrome characterized by defects in the lower sternum with ectopia cordis, anterior diaphragm defects, midline supraumbilical abdominal wall defects, defects in the diaphragmatic pericardium, and congenital heart disease. The authors report a 12-weeks gestation with multiple fetal anomalies suggesting the diagnosis of CP (a large thoraco-abdominal defect with herniating liver and bowel, heart deviated anteriorly with concomitant ventricular septal defect), and the 'S' shaped fetal spine due to increased lumbar lordosis and scoliosis with accompanying pes equinovarus deformity. Chorionic villus sampling was performed due to increased nuchal translucency (3.7 mm). The fetal karotype was found to be 47, XX,+21 (trisomy 21). In the literature, three scoliosis cases have been reported accompanying the CP along with multiple anomalies and one concomitant pes equinovarus deformity has been reported previously.
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PMID:Pentalogy of Cantrell accompanied by scoliosis and pes equinovarus deformity at 12 weeks gestation. 2615 22

Providing clinically relevant prognoses and treatment information for people with a chromsome18q deletion is particularly challenging because every unrelated person has a unique region of hemizygosity. The hemizygous region can involve almost any region of 18q including between 1 and 101 genes (30 Mb of DNA). Most individuals have terminal deletions, but in our cohort of over 350 individuals 23% have interstitial deletions. Because of this heterogeneity, we take a gene by gene approach to understanding the clinical consequences. There are 196 genes on 18q. We classified 133 of them as dosage insensitive, 15 (8%) as dosage sensitive leading to haploinsufficiency while another 10 (5%) have effects that are conditionally haploinsufficient and are dependent on another factor, genetic or environmental in order to cause an abnormal phenotype. Thirty-seven genes (19%) have insufficient information to classify their dosage effect. Phenotypes attributed to single genes include: congenital heart disease, minor bone morphology changes, central nervous system dysmyelination, expressive speech delay, vesicouretreral reflux, polyposis, Pitt-Hopkins syndrome, intellectual disability, executive function impairment, male infertility, aural atresia, and high frequency sensorineural hearing loss. Additionally, identified critical regions for other phenotypes include: adolescent idiopathic scoliosis and pectus excavatum, Virchow-Robin perivascular spaces, small corpus callosum, strabismus, atopic disorders, mood disorder, IgA deficiency, nystagmus, congenital heart disease, kidney malformation, vertical talus, CNS dysmyelination growth hormone deficiency and cleft palate. Together these findings make it increasingly feasible to compile an individualized syndrome description based on each person's individuated genotype. Future work will focus on understanding molecular mechanisms leading to treatment.
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PMID:Consequences of chromsome18q deletions. 2623 40

Anaphylactic reaction to gelatin-containing hemostatic agents has been reported in the orthopedic literature, most commonly during scoliosis repair in adolescents. However, the risk, differential diagnosis, and management of anaphylaxis in patients with complex congenital heart disease undergoing noncardiac procedures have not been previously reported. We describe the case of an adolescent with a history of repaired truncus arteriosus undergoing posterior spinal fusion who developed sudden and profound hypotension that was ultimately confirmed to be an anaphylactic reaction to Surgiflo. Echocardiography was used to aid in diagnosis and management of the cardiovascular effects of anaphylaxis in this patient with residual cardiac pathophysiology.
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PMID:Anaphylaxis to Surgiflo During Posterior Spinal Fusion in an Adolescent Status Post Truncus Arteriosus Repair: A Case Report. 2906 3

22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low copy repeat (LCR)-mediated copy-number losses of chromosome 22q11. The Children's Hospital of Philadelphia has been involved in the clinical care of individuals with what is now known as 22q11.2DS since our initial report of the association with DiGeorge syndrome in 1982. We reviewed the medical records on our continuously growing longitudinal cohort of 1,421 patients with molecularly confirmed 22q11.2DS from 1992 to 2018. Most individuals are Caucasian and older than 8 years. The mean age at diagnosis was 3.9 years. The majority of patients (85%) had typical LCR22A-LCR22D deletions, and only 7% of these typical deletions were inherited from a parent harboring the deletion constitutionally. However, 6% of individuals harbored other nested deletions that would not be identified by traditional 22q11.2 FISH, thus requiring an orthogonal technology to diagnose. Major medical problems included immune dysfunction or allergies (77%), palatal abnormalities (67%), congenital heart disease (64%), gastrointestinal difficulties (65%), endocrine dysfunction (>50%), scoliosis (50%), renal anomalies (16%), and airway abnormalities. Median full-scale intelligence quotient was 76, with no significant difference between individuals with and without congenital heart disease or hypocalcemia. Characteristic dysmorphic facial features were present in most individuals, but dermatoglyphic patterns of our cohort are similar to normal controls. This is the largest longitudinal study of patients with 22q11.2DS, helping to further describe the condition and aid in diagnosis and management. Further surveillance will likely elucidate additional clinically relevant findings as they age.
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PMID:What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. 3038 Jan 91

Background: Pediatric spinal deformity surgeries are challenging operations that require considerable expertise and resources. The unique anatomy and rarity of these cases present challenges in surgical training and preparation. We present a case series illustrating how 3-dimensional (3-D) printed models were used in preoperative planning for 3 cases of pediatric spinal deformity surgery. Case Series: Patient 1 was a 6-year-old male with scoliosis secondary to an L3 hemivertebra and severe congenital heart disease who underwent excision of the L3 hemivertebra and L2-L4 spinal fusion. Patient 2 was an 11-year-old male with an L2 hemivertebra and lumbar kyphosis who underwent excision of the L2 hemivertebra and T12-L4 spinal fusion. Patient 3 was a 6-year-old female with Down syndrome who presented with atlantoaxial instability and acute lymphoblastic leukemia. She underwent occipital-cervical spinal fusion and decompression. Prior to surgery, 3-D printed models of the patients' spines were created based on computed tomography (CT) imaging. Conclusion: The anatomic complexity and risk of devastating neurologic consequences in spine surgery call for careful preparations. 3-D models enable more efficient and precise surgical planning compared to the use of 2-dimensional CT/magnetic resonance images. The 3-D models also make it easier to visualize patient anatomy, allowing patients and their families who lack medical training to interpret and understand cross-sectional anatomy, which in our experience, enhanced the consultations.
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PMID:Three-Dimensional Printed Patient Models for Complex Pediatric Spinal Surgery. 3098 2

Scoliosis is common in children with congenital heart disease (CHD) and may have deleterious effects on quality of life and hemodynamics. Relatively little is known about the outcomes of spinal fusion for scoliosis repair in children with complex CHD. We reviewed all cases of children with CHD undergoing first time spinal fusion excluding those with minor CHD between 1995 and 2015. Seventy-eight patients were identified and included in the study. 97.4% of patients included had undergone prior cardiac surgery and sixteen patients had single ventricle circulations. 17.9% of patients experienced a significant perioperative event defined as an aggregate of the presence of any of the following: need for early unanticipated reoperation, neurologic deficit, postoperative bleeding requiring intervention, end organ dysfunction, or death. There were no deaths in our cohort. 38.5% of patients experienced any adverse event, the majority of which were related to perioperative fluid shifts. Larger preoperative Cobb angle and longer length of spinal fusion were associated with increased risk of significant perioperative event while larger preoperative Cobb angle and longer length of spinal fusion, older age at time of surgery, single ventricle circulation, cyanosis and patients taking cardiac medications at the time of surgery were more likely to experience any adverse event. Operative repair of scoliosis in children with complex CHD has been performed without mortality over a 20-year period in a single institution, albeit with a higher rate of perioperative complication than is seen in the general pediatric population. Patients with large preoperative Cobb angles and cyanotic single ventricle circulations appear to be at the highest risk for perioperative complications.
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PMID:Adverse Perioperative Events in Children with Complex Congenital Heart Disease Undergoing Operative Scoliosis Repair in the Contemporary Era. 3135 May 68


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