A 3-year-old mixed-breed female cat was diagnosed with a ventricular septal defect of the heart through an echocardiogram. After a 9-month treatment, progressive and diffuse hard thickening of all limbs was observed, which on radiographic examinations, revealed a marked thickening of the long bones. The necropsy findings were limited to the appendicular skeleton and thoracic vertebrae, in addition to a severe cardiac interventricular septal defect and lung edema. The histological evaluation revealed severe replacement of the cortical bone by spongy bone in all bone fragments examined. This is the first report of hypertrophic osteopathy occurring in association with a cardiac malformation in a cat.
Animals ; Bone Diseases ; Cardiovascular Diseases ; Cats ; Child, Preschool ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Edema ; Extremities ; Female ; Heart ; Heart Septal Defects, Ventricular ; Humans ; Lung ; Skeleton ; Thoracic Vertebrae

PURPOSE: Patients with Turner syndrome (TS) have increased risk of morbidities and mortality related to cardiovascular complications. Cardio-ankle vascular index (CAVI) is a novel method of evaluating arterial stiffness independent of changes in blood pressure. We compared arterial stiffness using CAVI between TS patients and healthy control subjects. METHODS: Nineteen young women with TS (mean, 26.8 years; range, 20.0–35.1 years) and 23 healthy women matched for age and body mass index (BMI) were recruited for CAVI measurements at Seoul National University Hospital between 2010 and 2013. Anthropometric parameters, fasting blood testing and measurements of CAVI were compared between the 2 groups. RESULTS: TS patients were significantly shorter (mean: 150.1 cm vs. 160.7 cm, P<0.001) and had lower body weight (mean: 47.0 kg vs. 55.5 kg, P=0.014) than healthy controls, without difference in BMI. CAVI (6.5±0.6 vs. 6.1±0.6, P=0.039) was significantly higher in TS patients compared to healthy controls. Age was positively associated with CAVI (r=0.403, P=0.008) in univariate analysis. After adjusting for age, TS was associated with CAVI (P=0.006). CONCLUSION: Young women with TS showed increased arterial stiffness measured by CAVI compared to healthy women after adjusting for age, suggesting inherent vasculopathy in TS patients.
Blood Pressure ; Body Mass Index ; Body Weight ; Cardiovascular Abnormalities ; Fasting ; Female ; Hematologic Tests ; Humans ; Methods ; Mortality ; Seoul ; Turner Syndrome ; Vascular Stiffness

Williams syndrome is a rare congenital disorder with various physical abnormalities and characterized by facial, oral, and dental features. Individuals with Williams syndrome typically have eating disorders in the early childhood, which lead to prolonged night feeding. Prolonged night feeding is a risk factor for rampant dental caries. Williams syndrome is caused by the microdeletion of chromosome 7, resulting in elastin deficiency. Elastin is integral to cardiovascular health. Many patients with Williams syndrome have complex cardiovascular abnormalities that must be considered a part of dental management. Complications related to cardiovascular diseases may induce adverse effects such as dangerously elevated blood pressure. This may occur in patients during stressful dental treatment. In addition, characteristics of auditory hyperalgesia and anxiety disorders among patients with William syndrome, complicate receiving routine dental management. Therefore, dental treatment under sedation or general anesthesia may be preferable for patients with Williams syndrome; in particular, patients who are very uncooperative and/or needs extensive dental treatment. A thorough evaluation of each patient's physical condition is required before making decisions regarding dental treatment. Careful monitoring and preparation for emergencies are very important during and shortly after dental treatment under general anesthesia or sedation. Monitoring is critical until vital signs have stabilized and return to normal. A 28-month-old man diagnosed as having Williams syndrome, visited the Dental Hospital of OO University for the management of rampant dental caries. We reported on the management of this patient who had peripheral pulmonic stenosis, and received dental treatment under general anesthesia. We also reviewed the characteristics of Williams syndrome and discussed considerations for dental treatment under general anesthesia.
Anesthesia, General ; Anxiety Disorders ; Blood Pressure ; Cardiovascular Abnormalities ; Cardiovascular Diseases ; Child, Preschool ; Chromosomes, Human, Pair 7 ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Dental Caries ; Eating ; Elastin ; Emergencies ; Humans ; Hyperalgesia ; Pulmonary Valve Stenosis ; Risk Factors ; Vital Signs ; Williams Syndrome

Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being.
Adult* ; Cardiovascular Abnormalities ; Cognition Disorders ; Diagnosis* ; Health Personnel ; Humans ; Hypercalcemia ; Incidence ; Intellectual Disability* ; Mass Screening ; Williams Syndrome*

Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple anomalies, including defects of the major cardiovascular system and the extracardiovascular system such as intestinal malrotation, abnormal lung lobulation, bronchus anomalies, and pancreatic dysplasia. Although pancreatic dysplasia is occasionally accompanied with HS, the occurrence of diabetes mellitus (DM) due to pancreatic dysplasia in HS is rarely reported. We here report a case involving 13-year-old girl with DM caused by agenesis of the dorsal pancreas and HS diagnosed on the basis of the presence of a double-outlet right ventricle with bilateral pulmonary stenosis and intestinal malrotation with duodenal cyst. Timely diagnosis and treatment with insulin improved glycemic control.
Adolescent ; Bronchi ; Cardiovascular System ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Diabetes Mellitus* ; Diagnosis ; Double Outlet Right Ventricle ; Female ; Heterotaxy Syndrome* ; Humans ; Insulin ; Lung ; Pancreas* ; Pulmonary Valve Stenosis

Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardiovascular abnormalities, are rarely associated with the syndrome. This paper reports a rare case of van der Woude syndrome in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, hypodontia, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot.
Anodontia ; Cardiovascular Abnormalities ; Child ; Cleft Lip ; Cleft Palate ; Congenital Abnormalities* ; Extremities* ; Foot ; Humans ; Lip* ; Male ; Microstomia ; Palate ; Syndactyly ; Toes

Anatomical variations of carotid arteries may be related to their development (agenesis, aplasia, hypoplasia) or course (coiling, kinking, tortuosity). Partial or total aberrancies in carotid vessel anatomy rarely occur. We describe the case of a 95-year-old woman presented with sudden onset of confusion and disorientation together with upper limb clonus. Computed tomography (CT)-scan revealed a left frontal brain injury with a not conclusive carotid doppler ultrasound. CT angiography reported a bovine aortic arch with bilateral retroesophageal course of both common carotid arteries and left severe (>70%) internal carotid artery stenosis. The knowledge of anatomical variations of the course of carotid arteries is relevant for possible surgical or endovascular repair or in case of otolaryngology or intubation procedures.
Angiography ; Aorta, Thoracic* ; Brain Injuries ; Cardiovascular Abnormalities ; Carotid Arteries ; Carotid Artery, Common* ; Carotid Stenosis ; Female ; Humans ; Intubation ; Otolaryngology ; Ultrasonography ; Upper Extremity

PURPOSE: The aim of the present study was to investigate the risk factors for the development of coronary artery lesions (CALs) and to determine whether hyponatremia is associated with CALs in children with Kawasaki disease (KD). METHODS: We retrospectively analyzed the data of 105 children with KD who were admitted to Ilsan Hospital between January 2000 and July 2011. RESULTS: Erythrocyte sedimentation rate (P = 0.013), total bilirubin levels (P = 0.017) were higher and serum sodium levels (P = 0.027) were lower in KD children with CALs than those without. White blood cell (WBC) counts (P = 0.006), neutrophil counts (P = 0.003) were higher and albumin levels (P = 0.009) were lower in KD children with hyponatremia than those without. On multiple logistic regression analysis, hyponatremia (P = 0.024) and intravenous immunoglobulin??resistance (P = 0.024) were independent risk factors for CALs in KD. Furthermore, serum sodium levels were correlated negatively with WBC counts (P = 0.004), neutrophil counts (P < 0.001), total bilirubin levels (P = 0.005) and positively with albumin levels (P = 0.009). CONCLUSION: Our study indicates that hyponatremia may reflect severe inflammation in children with KD.
Bilirubin ; Blood Sedimentation ; Cardiovascular Abnormalities ; Child* ; Coronary Vessels ; Humans ; Hyponatremia* ; Inflammation* ; Leukocytes ; Logistic Models ; Mucocutaneous Lymph Node Syndrome* ; Neutrophils ; Retrospective Studies ; Risk Factors ; Sodium

Aneurysm ; pathology ; Aneurysm, Dissecting ; diagnosis ; Cardiovascular Abnormalities ; pathology ; Deglutition Disorders ; pathology ; Humans ; Male ; Middle Aged ; Subclavian Artery ; abnormalities ; pathology

Bicuspid aortic valve (BAV) is the most common congenital heart disease with marked heterogeneity in many aspects. Fusion patterns of the aortic cusp are quite variable with different type and severity of valvular dysfunction. Moreover, non-valvular cardiovascular abnormalities are associated with BAV. Among them, aortic aneurysm/dissection is the most serious clinical condition with variable patterns of segmental aortic dilatation. Potential association between BAV phenotype and valvulopathy or aortopathy has been suggested, but needs to be tested further. A lack of long-term outcome data at this moment is responsible for unresolved debate regarding appropriate management of patients with BAV, specifically to prevent development of aortic dissection. Long-term follow-up data of a well-characterized cohort or registry based on standardized classification of BAV phenotype and aortopathy are necessary for evidence-based medical practice. Advanced imaging techniques such as computed tomography or magnetic resonance imaging offer better opportunities for accurate phenotype classification and imaging specialists should play a central role to establish a collaborative multicenter cohort or registry.
Aortic Valve* ; Bicuspid* ; Cardiovascular Abnormalities ; Classification ; Cohort Studies ; Dilatation ; Heart Defects, Congenital ; Humans ; Magnetic Resonance Imaging ; Phenotype ; Population Characteristics ; Specialization*