Congenital heart defects and skeletal malformation syndrome is very rare syndrome. Most of the patients had germline mutations in ABL1 gene. A 30-year-old gentleman presented with history congenital disease (ventricular septal defect) malformations which are typical CHDSKM. Patient also hemiplegia CHDSKMS. lactose intolerance since childhood. Patients were evaluated thoroughly to rule out other...

Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type...

INTRODUCTION Morgagni's congenital diaphragmatic defect is a rare malformation, the diagnosis of which, as in our case report, may be problematic. To the best of our knowledge, this is the first report of this kind of hernia presenting with signs and symptoms of severe cardiac malformation. CASE PRESENTATION We report the case of a three-month-old Caucasian baby boy, who presented with heart ...

BACKGROUND Intracranial arteriovenous malformation rarely causes pulmonary hypertension and congestive heart failure in the newborn. Its diagnosis is challenging because cardiomegaly may suggest an intra-cardiac structural lesion. CASE PRESENTATION We present two newborns, one 2-day-old male and the other 11-day-old female, with intracranial arteriovenous malformation and misdiagnosis of cong...

Congenital anomalies and within them anatomical variations of coronary arteries, although uncommon, are being increasingly studied diagnosed due to the close relationship symptoms such as angina, dyspnea, syncope or arrhythmias in young people without comorbidities. This study aimed present case report a patient with ischemic secondary malformation artery. We describe moment admission, diagnosi...

Background The cardiovascular magnetic resonance (CMR) is usually complements echocardiography, provides a nonionizing radiation evaluation of congenital heart disease(CHD). The congenital air way malformation occur significantly more patients with CHD than patients without CHD. Echocardiography can not show air way well and CT can show air way very well. MRI has emerged as a powerful approach ...

Congenital portosystemic shunts (CPSS) are rare congenital vascular anomalies associated with partial or complete diversion of the portal blood into systemic circulation. extrahepatic (CEPSS) termed Abernethy malformation. This pathology is a diagnostic challenge due to its low incidence and variable clinical presentations. We report case malformation Type Ib in 15-year-old male long-standing h...