Background Hypoplastic left heart syndrome (HLH) is a severe form of congenital heart disease in which the left-sided structures of the heart (mitral valve, left ventricle aortic valve, and aorta) do not develop normally, so that blood cannot flow normally through the left side of the heart. Before babies are born, there is a communication, called the arterial duct, between the pulmonary artery and the aorta (the two main arteries of the heart). The duct closes within the first few weeks after birth. In babies with HLH, the only way blood can flow to the aorta and the body is through the duct. HLH occurs in approximately 1 in 5,000 children. Approximately 200 diagnoses are made annually in the UK and Ireland. Credits Last updated April 2014 by Dr Gurleen Sharland, Consultant Fetal Cardiologist, Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London, UK. What are the symptoms? Babies that have HLH often look normal immediately after birth, but within a few days they become breathless, appear ashen, have difficulty feeding and become very ill. Unless it is treated, this type of heart problem is usually fatal within the first days or month of life. What are the causes? In most cases, the cause isn’t known, but sometimes the heart abnormality can be part of a genetic syndrome. How is it diagnosed? In the UK, the majority of cases are now detected before birth, though in some cases the diagnosis is not made until after birth. The diagnosis is made by performing an echocardiogram (an ultrasound examination of the heart), either before or after birth. How is it treated? There are a series of operations available that can allow children to have a reasonable quality of life. This surgical treatment, which is performed in specialist paediatric cardiac centres, is carried out as a staged procedure in three steps. Until the first operation is performed, the arterial duct is kept open by injection of a drug called prostin. The initial surgery is usually carried out within a few days of birth, and is called the Norwood procedure (though babies who are very small or very ill may not be suitable for the Norwood procedure initially and may be offered a different treatment to start with, called the hybrid procedure). The aim of the Norwood procedure is to use the one good pumping chamber (right ventricle) to pump blood into the main artery to the body (the aorta). The blood supply to the lung artery (pulmonary artery) is then provided by a ‘shunt’ – a tube, made of synthetic material, which is placed between the aorta and the pulmonary artery. The second stage of surgery (bidirectional Glenn or hemi-Fontan) is usually performed between four and 12 months of age, and the third stage (Fontan or extracardiac Fontan) is usually performed between 18 months and three years. Inheritance patterns and prenatal diagnosis Inheritance patternsAt present, there is no genetic test available to detect HLH. If a family has previously had a child with HLH, their risk of having another child with a heart condition is between two to five per cent. Prenatal diagnosisPregnant women that have already had an affected child can be referred directly to specialist fetal cardiology centres for assessment of their baby’s heart during pregnancy. It is also possible to detect HLH at the time of the routine mid-trimester anomaly scan (usually performed between 18 to 22 weeks’ gestation). Referral is then made to a specialist centre for confirmation of diagnosis and an explanation of the problem, its implications and the management options. Early diagnosis allows parents time to explore all options, including palliative surgery at birth, comfort care (where the decision is made to not proceed with surgical treatment) or termination of pregnancy. Is there support? Little Hearts Matter Tel: 0121 455 8982Email: [email protected]Website: lhm.org.uk The Organisation is a Registered Charity in England and Wales No. 1123290. It provides information and support for families affected by any single ventricle heart condition such as hypoplastic left heart syndrome, tricuspid atresia, complex pulmonary atresia and double inlet single ventricle conditions. The Organisation has parent-to-parent support contacts, an antenatal team and a youth service team. Group details last reviewed December 2020.
What are the symptoms? Babies that have HLH often look normal immediately after birth, but within a few days they become breathless, appear ashen, have difficulty feeding and become very ill. Unless it is treated, this type of heart problem is usually fatal within the first days or month of life. What are the causes? In most cases, the cause isn’t known, but sometimes the heart abnormality can be part of a genetic syndrome. How is it diagnosed? In the UK, the majority of cases are now detected before birth, though in some cases the diagnosis is not made until after birth. The diagnosis is made by performing an echocardiogram (an ultrasound examination of the heart), either before or after birth. How is it treated? There are a series of operations available that can allow children to have a reasonable quality of life. This surgical treatment, which is performed in specialist paediatric cardiac centres, is carried out as a staged procedure in three steps. Until the first operation is performed, the arterial duct is kept open by injection of a drug called prostin. The initial surgery is usually carried out within a few days of birth, and is called the Norwood procedure (though babies who are very small or very ill may not be suitable for the Norwood procedure initially and may be offered a different treatment to start with, called the hybrid procedure). The aim of the Norwood procedure is to use the one good pumping chamber (right ventricle) to pump blood into the main artery to the body (the aorta). The blood supply to the lung artery (pulmonary artery) is then provided by a ‘shunt’ – a tube, made of synthetic material, which is placed between the aorta and the pulmonary artery. The second stage of surgery (bidirectional Glenn or hemi-Fontan) is usually performed between four and 12 months of age, and the third stage (Fontan or extracardiac Fontan) is usually performed between 18 months and three years. Inheritance patterns and prenatal diagnosis Inheritance patternsAt present, there is no genetic test available to detect HLH. If a family has previously had a child with HLH, their risk of having another child with a heart condition is between two to five per cent. Prenatal diagnosisPregnant women that have already had an affected child can be referred directly to specialist fetal cardiology centres for assessment of their baby’s heart during pregnancy. It is also possible to detect HLH at the time of the routine mid-trimester anomaly scan (usually performed between 18 to 22 weeks’ gestation). Referral is then made to a specialist centre for confirmation of diagnosis and an explanation of the problem, its implications and the management options. Early diagnosis allows parents time to explore all options, including palliative surgery at birth, comfort care (where the decision is made to not proceed with surgical treatment) or termination of pregnancy. Is there support? Little Hearts Matter Tel: 0121 455 8982Email: [email protected]Website: lhm.org.uk The Organisation is a Registered Charity in England and Wales No. 1123290. It provides information and support for families affected by any single ventricle heart condition such as hypoplastic left heart syndrome, tricuspid atresia, complex pulmonary atresia and double inlet single ventricle conditions. The Organisation has parent-to-parent support contacts, an antenatal team and a youth service team. Group details last reviewed December 2020.
What are the symptoms? Babies that have HLH often look normal immediately after birth, but within a few days they become breathless, appear ashen, have difficulty feeding and become very ill. Unless it is treated, this type of heart problem is usually fatal within the first days or month of life.
What are the causes? In most cases, the cause isn’t known, but sometimes the heart abnormality can be part of a genetic syndrome.
How is it diagnosed? In the UK, the majority of cases are now detected before birth, though in some cases the diagnosis is not made until after birth. The diagnosis is made by performing an echocardiogram (an ultrasound examination of the heart), either before or after birth.
How is it treated? There are a series of operations available that can allow children to have a reasonable quality of life. This surgical treatment, which is performed in specialist paediatric cardiac centres, is carried out as a staged procedure in three steps. Until the first operation is performed, the arterial duct is kept open by injection of a drug called prostin. The initial surgery is usually carried out within a few days of birth, and is called the Norwood procedure (though babies who are very small or very ill may not be suitable for the Norwood procedure initially and may be offered a different treatment to start with, called the hybrid procedure). The aim of the Norwood procedure is to use the one good pumping chamber (right ventricle) to pump blood into the main artery to the body (the aorta). The blood supply to the lung artery (pulmonary artery) is then provided by a ‘shunt’ – a tube, made of synthetic material, which is placed between the aorta and the pulmonary artery. The second stage of surgery (bidirectional Glenn or hemi-Fontan) is usually performed between four and 12 months of age, and the third stage (Fontan or extracardiac Fontan) is usually performed between 18 months and three years.
Inheritance patterns and prenatal diagnosis Inheritance patternsAt present, there is no genetic test available to detect HLH. If a family has previously had a child with HLH, their risk of having another child with a heart condition is between two to five per cent. Prenatal diagnosisPregnant women that have already had an affected child can be referred directly to specialist fetal cardiology centres for assessment of their baby’s heart during pregnancy. It is also possible to detect HLH at the time of the routine mid-trimester anomaly scan (usually performed between 18 to 22 weeks’ gestation). Referral is then made to a specialist centre for confirmation of diagnosis and an explanation of the problem, its implications and the management options. Early diagnosis allows parents time to explore all options, including palliative surgery at birth, comfort care (where the decision is made to not proceed with surgical treatment) or termination of pregnancy.
Is there support? Little Hearts Matter Tel: 0121 455 8982Email: [email protected]Website: lhm.org.uk The Organisation is a Registered Charity in England and Wales No. 1123290. It provides information and support for families affected by any single ventricle heart condition such as hypoplastic left heart syndrome, tricuspid atresia, complex pulmonary atresia and double inlet single ventricle conditions. The Organisation has parent-to-parent support contacts, an antenatal team and a youth service team. Group details last reviewed December 2020.
Background Haemolytic Uraemic syndromes: Hemolytic Uremic syndromes (USA) The haemolytic uraemic syndromes (HUS) are a group of disorders that can lead to acute kidney failure in children. These conditions are characterised by haemolytic anaemia (destruction of red blood cells) a low platelet count and kidney failure. There are three types of HUS: one caused by Escherichia coli (E.coli), one caused by the Pneumococcus bug and an atypical form. Credits Medical text written July 2011 by Dr R Trompeter, Consultant Paediatric Nephrologist, Great Ormond Street Hospital, London, UK. What are the symptoms? HUS caused by E.Coli, the child will have had a preceding episode of diarrhoea, which is usually bloody. For this reason it is sometimes call diarrhoea positive (D+) HUS. When HUS is caused by the Pneumococcal bug, the child may have had a chest infection. Symptoms include paleness, tiredness and weakness – which are all indicative of anaemia. A child may pass less urine or stop passing urine completely. This means that the kidneys are unable to remove excess salt and water from the body, which can lead to swollen face, tummy, hands or feet (oedema), and hypertension (raised blood pressure). Other organ systems may be affected and there may be signs of neurological involvement. What are the causes? Most children develop HUS after a preceding illness, usually gastroenteritis. The onset of the breakdown of red blood cells and kidney failure is sudden. It is now believed that the majority of cases of D+HUS are associated with infection by verocytotoxin producing Escherichia coli (VTEC). These organisms are associated with clinical conditions ranging from mild diarrhoea to haemorrhagic colitis and D+HUS. Food-borne transmission of VTEC 0157 has been shown to occur in a large number of outbreaks in various parts of the world. Minced beef and dairy produce are the most commonly implicated foods. Infection has also been associated with the consumption of water, vegetables and fruit juice. Person to person spread and contact with livestock have also been documented as modes of transmission of infection in outbreaks in Europe and North America. How is it treated? Dehydration is common after severe vomiting and diarrhoea and can be treated by giving fluids through a drip. Regular blood tests will be needed to check the levels red blood cells and platelets. A blood transfusion may be required if a child has a very low level of red blood cells. When kidneys are severely affected kidney dialysis may be required. Sometimes children are left with kidneys that do not recover completely and have chronic renal failure. In this case, prolonged dialysis may be needed. Typical HUS once treated does not tend to return, however, it is advised that children who have had an episode be kept under general medical review. Atypical HUS tends to come and go after treatment, so careful follow-up is necessary. Inheritance patterns and prenatal diagnosis Inheritance patternsNot applicable. Prenatal diagnosisNot applicable. Is there support? Haemolytic Uraemic Syndrome Help (HUSH) Tel: 020 8573 8588Email: [email protected]Website: ecoli-uk.com HUSH is a Registered Charity in Scotland No. SC026945. It supports and brings together families affected by E.coli O157 in the UK. The Charity increases public awareness of E.coli O157 and provides information on avoiding infection. Group details last updated December 2014.
What are the symptoms? HUS caused by E.Coli, the child will have had a preceding episode of diarrhoea, which is usually bloody. For this reason it is sometimes call diarrhoea positive (D+) HUS. When HUS is caused by the Pneumococcal bug, the child may have had a chest infection. Symptoms include paleness, tiredness and weakness – which are all indicative of anaemia. A child may pass less urine or stop passing urine completely. This means that the kidneys are unable to remove excess salt and water from the body, which can lead to swollen face, tummy, hands or feet (oedema), and hypertension (raised blood pressure). Other organ systems may be affected and there may be signs of neurological involvement. What are the causes? Most children develop HUS after a preceding illness, usually gastroenteritis. The onset of the breakdown of red blood cells and kidney failure is sudden. It is now believed that the majority of cases of D+HUS are associated with infection by verocytotoxin producing Escherichia coli (VTEC). These organisms are associated with clinical conditions ranging from mild diarrhoea to haemorrhagic colitis and D+HUS. Food-borne transmission of VTEC 0157 has been shown to occur in a large number of outbreaks in various parts of the world. Minced beef and dairy produce are the most commonly implicated foods. Infection has also been associated with the consumption of water, vegetables and fruit juice. Person to person spread and contact with livestock have also been documented as modes of transmission of infection in outbreaks in Europe and North America. How is it treated? Dehydration is common after severe vomiting and diarrhoea and can be treated by giving fluids through a drip. Regular blood tests will be needed to check the levels red blood cells and platelets. A blood transfusion may be required if a child has a very low level of red blood cells. When kidneys are severely affected kidney dialysis may be required. Sometimes children are left with kidneys that do not recover completely and have chronic renal failure. In this case, prolonged dialysis may be needed. Typical HUS once treated does not tend to return, however, it is advised that children who have had an episode be kept under general medical review. Atypical HUS tends to come and go after treatment, so careful follow-up is necessary. Inheritance patterns and prenatal diagnosis Inheritance patternsNot applicable. Prenatal diagnosisNot applicable. Is there support? Haemolytic Uraemic Syndrome Help (HUSH) Tel: 020 8573 8588Email: [email protected]Website: ecoli-uk.com HUSH is a Registered Charity in Scotland No. SC026945. It supports and brings together families affected by E.coli O157 in the UK. The Charity increases public awareness of E.coli O157 and provides information on avoiding infection. Group details last updated December 2014.
What are the symptoms? HUS caused by E.Coli, the child will have had a preceding episode of diarrhoea, which is usually bloody. For this reason it is sometimes call diarrhoea positive (D+) HUS. When HUS is caused by the Pneumococcal bug, the child may have had a chest infection. Symptoms include paleness, tiredness and weakness – which are all indicative of anaemia. A child may pass less urine or stop passing urine completely. This means that the kidneys are unable to remove excess salt and water from the body, which can lead to swollen face, tummy, hands or feet (oedema), and hypertension (raised blood pressure). Other organ systems may be affected and there may be signs of neurological involvement.
What are the causes? Most children develop HUS after a preceding illness, usually gastroenteritis. The onset of the breakdown of red blood cells and kidney failure is sudden. It is now believed that the majority of cases of D+HUS are associated with infection by verocytotoxin producing Escherichia coli (VTEC). These organisms are associated with clinical conditions ranging from mild diarrhoea to haemorrhagic colitis and D+HUS. Food-borne transmission of VTEC 0157 has been shown to occur in a large number of outbreaks in various parts of the world. Minced beef and dairy produce are the most commonly implicated foods. Infection has also been associated with the consumption of water, vegetables and fruit juice. Person to person spread and contact with livestock have also been documented as modes of transmission of infection in outbreaks in Europe and North America.
How is it treated? Dehydration is common after severe vomiting and diarrhoea and can be treated by giving fluids through a drip. Regular blood tests will be needed to check the levels red blood cells and platelets. A blood transfusion may be required if a child has a very low level of red blood cells. When kidneys are severely affected kidney dialysis may be required. Sometimes children are left with kidneys that do not recover completely and have chronic renal failure. In this case, prolonged dialysis may be needed. Typical HUS once treated does not tend to return, however, it is advised that children who have had an episode be kept under general medical review. Atypical HUS tends to come and go after treatment, so careful follow-up is necessary.
Inheritance patterns and prenatal diagnosis Inheritance patternsNot applicable. Prenatal diagnosisNot applicable.
Is there support? Haemolytic Uraemic Syndrome Help (HUSH) Tel: 020 8573 8588Email: [email protected]Website: ecoli-uk.com HUSH is a Registered Charity in Scotland No. SC026945. It supports and brings together families affected by E.coli O157 in the UK. The Charity increases public awareness of E.coli O157 and provides information on avoiding infection. Group details last updated December 2014.
If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library. To meet other parents online visit our closed Facebook group Please see below for reliable medical information on Hypotonia produced by alternative providers. NHS websitewww.nhs.uk/conditions Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional. Is there support? There is no support group for hypotonia in the UK. Families can use Contact’s freephone helpline for advice and information. To chat to other parents online visit our closed Facebook group.
Is there support? There is no support group for hypotonia in the UK. Families can use Contact’s freephone helpline for advice and information. To chat to other parents online visit our closed Facebook group.
Is there support? There is no support group for hypotonia in the UK. Families can use Contact’s freephone helpline for advice and information. To chat to other parents online visit our closed Facebook group.
Overview Hypothalamic hamartoma (HH) describes a benign brain tumour located close to or within the hypothalamus. This part of the brain produces the hormones that control body processes such as thirst, hunger, and sex hormone regulation. HH is associated with a number of features including epilepsy, particularly gelastic (laughing) seizures, behavioural problems and precocious (early) puberty (see entry Premature Sexual Maturation). Symptoms usually start in infancy or early childhood, but the range and severity of these features varies widely between individuals. Because the seizures resemble natural laughter, they may not be recognised as seizures initially, thus delaying a diagnosis of HH. Later in development, a child with HH may start to show outbursts of aggression and rage (often referred to as hypothalamic rage) and poor social adjustment. Increasing problems with learning often occur, and some HH children display signs of autism. The seizures resulting from HH can be difficult to control with medication, and surgery to remove the HH is often problematic, although there are new and more promising techniques being developed, including endoscopic and radiosurgery, and surgical disconnection of the tumour. In most cases, HH occurs sporadically (by chance), though some people with HH are affected by Pallister-Hall syndrome. Diagnosis of a HH might be possible on antenatal ultrasound, but would need to be confirmed using magnetic resonance imaging (MRI). This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information. Credits Medical text approved November 2013 by Dr Jenny Fisken (retired), formerly Associate Specialist in Community Paediatrics, North Yorkshire and York PCT. Is there support? There is no support group in the UK for Hypothalamic Hamartoma. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also meet other families online in our closed Facebook group
Is there support? There is no support group in the UK for Hypothalamic Hamartoma. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also meet other families online in our closed Facebook group
Is there support? There is no support group in the UK for Hypothalamic Hamartoma. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also meet other families online in our closed Facebook group
If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library. To meet other parents see support groups below or meet other parents online in our closed Facebook group Please see below for reliable medical information on Hypospadias produced by alternative providers. Patient UKwww.patient.info/health Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional. Is there support? Hypospadias UK Trust Email: [email protected]Website: hypospadiasuk.co.uk The group is a Registered Charity in England and Wales no. 1121886 offering support for men and boys with hypospadias, whether surgically operated on or not, and parents who may wish to obtain more information and support from men with hypospadias or medical professionals. They aim to educate the public about options for males with hypospadias and to inform and encourage the medical profession to respect the need for emotional and psychological support before and after surgery. Group details reviewed June 2024.
Is there support? Hypospadias UK Trust Email: [email protected]Website: hypospadiasuk.co.uk The group is a Registered Charity in England and Wales no. 1121886 offering support for men and boys with hypospadias, whether surgically operated on or not, and parents who may wish to obtain more information and support from men with hypospadias or medical professionals. They aim to educate the public about options for males with hypospadias and to inform and encourage the medical profession to respect the need for emotional and psychological support before and after surgery. Group details reviewed June 2024.
Is there support? Hypospadias UK Trust Email: [email protected]Website: hypospadiasuk.co.uk The group is a Registered Charity in England and Wales no. 1121886 offering support for men and boys with hypospadias, whether surgically operated on or not, and parents who may wish to obtain more information and support from men with hypospadias or medical professionals. They aim to educate the public about options for males with hypospadias and to inform and encourage the medical profession to respect the need for emotional and psychological support before and after surgery. Group details reviewed June 2024.