BACKGROUND Isolated left ventricular apical hypoplasia(ILVAH),also known as truncated left ventricle(LV),is a very unusual cardiomyopathy.It is characterised by a truncated,spherical,and non-apex forming LV.The true a...BACKGROUND Isolated left ventricular apical hypoplasia(ILVAH),also known as truncated left ventricle(LV),is a very unusual cardiomyopathy.It is characterised by a truncated,spherical,and non-apex forming LV.The true apex is occupied by the right ventricle.Due to the rarity of the disease,just a few case reports and limited case series have been published in the field.AIM To analysing the so far 37 reported ILVAH cases worldwide.METHODS The electronic databases PubMed and Scopus were investigated from their establishment up to December 13,2022.RESULTS The majority of cases reported occurred in males(52.7%).Mean age at diagnosis was 26.1±19.6 years.More than a third of the patients were asymptomatic(35.1%).The most usual clinical presentation was breathlessness(40.5%).The most commonly detected electrocardiogram changes were T wave abnormalities(29.7%)and right axis deviation with poor R wave progression(24.3%).Atrial fibrillation/flutter was detected in 24.3%.Echocardiography was performed in 97.3%of cases and cardiac MRI in 91.9%of cases.Ejection fraction was reduced in more than a half of patients(56.7%).An associated congenital heart disease was found in 16.2%.Heart failure therapy was administered in 35.1%of patients.The outcome was favorable in the vast majority of patients,with just one death.CONCLUSION ILVAH is a multifaceted entity with a so far unpredictable course,ranging from benign until the elderly to sudden death during adolescence.展开更多
Several diseases originate from bile duct pathology.Despite studies on these diseases,certain etiologies of some of them still cannot be concluded.The most common disease of the bile duct in newborns is biliary atresi...Several diseases originate from bile duct pathology.Despite studies on these diseases,certain etiologies of some of them still cannot be concluded.The most common disease of the bile duct in newborns is biliary atresia,whose prognosis varies according to the age of surgical correction.Other diseases such as Alagille syndrome,inspissated bile duct syndrome,and choledochal cysts are also time-sensitive because they can cause severe liver damage due to obstruction.The majority of these diseases present with cholestatic jaundice in the newborn or infant period,which is quite difficult to differentiate regarding clinical acumen and initial investigations.Intraoperative cholangiography is potentially necessary to make an accurate diagnosis,and further treatment will be performed synchronously or planned as findings suggest.This article provides a concise review of bile duct diseases,with interesting cases.展开更多
Potter syndrome is a rare congenital malformation that primarily affects male fetuses;it is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due ...Potter syndrome is a rare congenital malformation that primarily affects male fetuses;it is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due to oligohydramnios leads to an unusual facial appearance, abnormal limbs in abnormal positions, or contractures. The fetus generally dies soon after birth due to respiratory insufficiency. The baby was a live preterm male, born to a 30-year-old multigravida, out of a non-consanguineous marriage via cesarean section. There was no liquor at the time of delivery. The baby did not cry immediately after birth and required resuscitation, followed by mechanical ventilation. Multiple congenital anomalies suggestive of Potter’s syndrome were noted including facial features, flattened nose, low protruding ear, retrognathism, and epicanthal folds with unilateral atresia of the choana. Chest X-ray showed small volume lung fields suggestive of pulmonary hypoplasia, and we had on ultrasonography bilateral polycystic kidney disease on ultrasonography. At 42 hours of life, the baby developed tachypnea and severe chest retractions and died due to respiratory insufficiency. Our case highlights the importance of regular prenatal checks and examinations in each pregnancy, which helps to collect suspected cases and improve knowledge of this syndrome for better management.展开更多
文摘BACKGROUND Isolated left ventricular apical hypoplasia(ILVAH),also known as truncated left ventricle(LV),is a very unusual cardiomyopathy.It is characterised by a truncated,spherical,and non-apex forming LV.The true apex is occupied by the right ventricle.Due to the rarity of the disease,just a few case reports and limited case series have been published in the field.AIM To analysing the so far 37 reported ILVAH cases worldwide.METHODS The electronic databases PubMed and Scopus were investigated from their establishment up to December 13,2022.RESULTS The majority of cases reported occurred in males(52.7%).Mean age at diagnosis was 26.1±19.6 years.More than a third of the patients were asymptomatic(35.1%).The most usual clinical presentation was breathlessness(40.5%).The most commonly detected electrocardiogram changes were T wave abnormalities(29.7%)and right axis deviation with poor R wave progression(24.3%).Atrial fibrillation/flutter was detected in 24.3%.Echocardiography was performed in 97.3%of cases and cardiac MRI in 91.9%of cases.Ejection fraction was reduced in more than a half of patients(56.7%).An associated congenital heart disease was found in 16.2%.Heart failure therapy was administered in 35.1%of patients.The outcome was favorable in the vast majority of patients,with just one death.CONCLUSION ILVAH is a multifaceted entity with a so far unpredictable course,ranging from benign until the elderly to sudden death during adolescence.
基金Ratchadapiseksompotch Fund,Faculty of Medicine,Chulalongkorn University,RA-MF-18/66.
文摘Several diseases originate from bile duct pathology.Despite studies on these diseases,certain etiologies of some of them still cannot be concluded.The most common disease of the bile duct in newborns is biliary atresia,whose prognosis varies according to the age of surgical correction.Other diseases such as Alagille syndrome,inspissated bile duct syndrome,and choledochal cysts are also time-sensitive because they can cause severe liver damage due to obstruction.The majority of these diseases present with cholestatic jaundice in the newborn or infant period,which is quite difficult to differentiate regarding clinical acumen and initial investigations.Intraoperative cholangiography is potentially necessary to make an accurate diagnosis,and further treatment will be performed synchronously or planned as findings suggest.This article provides a concise review of bile duct diseases,with interesting cases.
文摘Potter syndrome is a rare congenital malformation that primarily affects male fetuses;it is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due to oligohydramnios leads to an unusual facial appearance, abnormal limbs in abnormal positions, or contractures. The fetus generally dies soon after birth due to respiratory insufficiency. The baby was a live preterm male, born to a 30-year-old multigravida, out of a non-consanguineous marriage via cesarean section. There was no liquor at the time of delivery. The baby did not cry immediately after birth and required resuscitation, followed by mechanical ventilation. Multiple congenital anomalies suggestive of Potter’s syndrome were noted including facial features, flattened nose, low protruding ear, retrognathism, and epicanthal folds with unilateral atresia of the choana. Chest X-ray showed small volume lung fields suggestive of pulmonary hypoplasia, and we had on ultrasonography bilateral polycystic kidney disease on ultrasonography. At 42 hours of life, the baby developed tachypnea and severe chest retractions and died due to respiratory insufficiency. Our case highlights the importance of regular prenatal checks and examinations in each pregnancy, which helps to collect suspected cases and improve knowledge of this syndrome for better management.
