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R. Kimmig - One of the best experts on this subject based on the ideXlab platform.
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Ventricular outflow obstruction, valve aplasia, bradyarrhythmia, pulmonary hypoplasia and non-immune fetal hydrops because of a large rhabdomyoma in a case of unknown tuberous sclerosis: a prenatal diagnosed cardiac rhabdomyoma with multiple symptoms
BJOG : an international journal of obstetrics and gynaecology, 2004Co-Authors: K. O. Kagan, M. Schmidt, U. Kuhn, R. KimmigAbstract:Cardiac tumours are very rare in intrauterine life and early infancy. Their prenatal incidence in screening examinations is estimated as 9/100,000 in a mixed group of high and low risk pregnancies but increases to 2/1000 in centres for paediatric cardiology. The most common type of tumour in this group is rhabdomyoma with about 70– 80% of all cardiac tumours in clinical series and about 40% in autopsy series. Von Recklinghausen was the first to describe a cardiac rhabdomyoma in a stillborn in 1862. Bourneville coined the term ‘tuberous sclerosis’ 18 years later. Especially in early infancy and intrauterine life, cardiac rhabdomyomas are associated with tuberous sclerosis in 50%. The incidence of rhabdomyoma in patients with tuberous sclerosis differs from 43% to 72%. Several case reports as well as clinical studies have described the appearance of rhabdomyoma in different conditions. We report a case of fetal rhabdomyoma accompanied by a combination of multiple fetal symptoms, which led to a new diagnosis of tuberous sclerosis in the mother. We present the case of a 19 year old primigravida without any previous history of diseases or pregnancy complications. The fetal cardiac tumour was first noticed during an ultrasound screening at 22 þ 2 weeks of gestation. At this time, the fetus showed prolonged episodes of bradycardia and had a pericardial effusion. A MRI suggested a cardiac rhabdomyoma and showed the tumour inside the left ventricular wall with a diameter of 19 mm. We first examined the fetus at 28 þ 0 weeks of gestation. Ultrasound showed all signs of fetal hydrops. The rhabdomyoma was 40 35 32 mm in size and was located inside the left ventricular wall. The size of the heart was 55 36 35 mm. As you can see in the ultrasound figure attached, the left outflow tract was completely obstructed by the tumour protruding into the left ventricle and the atrium. The mitral valve was fully displaced; the aortic valve appeared to be hypoplastic. The structure of the right ventricle was not affected (see Fig. 1). Both lungs seemed hypoplastic. The heart rate was about 130/minute with a few supraventricular extrasystoles. There was reversed blood flow through the foramen ovale. The ductus arteriosus was prominent and showed a regular blood flow. The ascending aorta as well as the aortic arch showed a reversed flow pattern. Doppler measurements of the descending aorta and the umbilical artery showed a normal pattern. The a-wave of the ductus venosus was positive, however, the pulsatility index was elevated. No venous pulsation was observed. We discussed the findings and the prognosis closely with the parents and the paediatric cardiologists. The parents decided to continue pregnancy but not to have close sonographic surveillance. The fetus died four weeks later at 32 weeks of pregnancy. The autopsy and histological examination confirmed the prenatal diagnosis of the suspected rhabdomyoma protruding into the left outflow tract and atrium. The mitral valve was atretic. Macroand microscopically, both lungs appeared highly immature. The neuropathological examination revealed a subependymal giant cell astrocytoma. The 19 year old patient showed multiple typical dermatological symptoms such as Adenoma Sebaceum, KoenenTumour, Shagreen patch and an ash leaf spot. According to the tuberous sclerosis consensus conference, the disease was confirmed in both the mother and the stillborn. However, molecular analysis did not reveal one of the two known genes of tuberous sclerosis. BJOG: an International Journal of Obstetrics and Gynaecology December 2004, Vol. 111, pp. 1478–1480
K. O. Kagan - One of the best experts on this subject based on the ideXlab platform.
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Ventricular outflow obstruction, valve aplasia, bradyarrhythmia, pulmonary hypoplasia and non-immune fetal hydrops because of a large rhabdomyoma in a case of unknown tuberous sclerosis: a prenatal diagnosed cardiac rhabdomyoma with multiple symptoms
BJOG : an international journal of obstetrics and gynaecology, 2004Co-Authors: K. O. Kagan, M. Schmidt, U. Kuhn, R. KimmigAbstract:Cardiac tumours are very rare in intrauterine life and early infancy. Their prenatal incidence in screening examinations is estimated as 9/100,000 in a mixed group of high and low risk pregnancies but increases to 2/1000 in centres for paediatric cardiology. The most common type of tumour in this group is rhabdomyoma with about 70– 80% of all cardiac tumours in clinical series and about 40% in autopsy series. Von Recklinghausen was the first to describe a cardiac rhabdomyoma in a stillborn in 1862. Bourneville coined the term ‘tuberous sclerosis’ 18 years later. Especially in early infancy and intrauterine life, cardiac rhabdomyomas are associated with tuberous sclerosis in 50%. The incidence of rhabdomyoma in patients with tuberous sclerosis differs from 43% to 72%. Several case reports as well as clinical studies have described the appearance of rhabdomyoma in different conditions. We report a case of fetal rhabdomyoma accompanied by a combination of multiple fetal symptoms, which led to a new diagnosis of tuberous sclerosis in the mother. We present the case of a 19 year old primigravida without any previous history of diseases or pregnancy complications. The fetal cardiac tumour was first noticed during an ultrasound screening at 22 þ 2 weeks of gestation. At this time, the fetus showed prolonged episodes of bradycardia and had a pericardial effusion. A MRI suggested a cardiac rhabdomyoma and showed the tumour inside the left ventricular wall with a diameter of 19 mm. We first examined the fetus at 28 þ 0 weeks of gestation. Ultrasound showed all signs of fetal hydrops. The rhabdomyoma was 40 35 32 mm in size and was located inside the left ventricular wall. The size of the heart was 55 36 35 mm. As you can see in the ultrasound figure attached, the left outflow tract was completely obstructed by the tumour protruding into the left ventricle and the atrium. The mitral valve was fully displaced; the aortic valve appeared to be hypoplastic. The structure of the right ventricle was not affected (see Fig. 1). Both lungs seemed hypoplastic. The heart rate was about 130/minute with a few supraventricular extrasystoles. There was reversed blood flow through the foramen ovale. The ductus arteriosus was prominent and showed a regular blood flow. The ascending aorta as well as the aortic arch showed a reversed flow pattern. Doppler measurements of the descending aorta and the umbilical artery showed a normal pattern. The a-wave of the ductus venosus was positive, however, the pulsatility index was elevated. No venous pulsation was observed. We discussed the findings and the prognosis closely with the parents and the paediatric cardiologists. The parents decided to continue pregnancy but not to have close sonographic surveillance. The fetus died four weeks later at 32 weeks of pregnancy. The autopsy and histological examination confirmed the prenatal diagnosis of the suspected rhabdomyoma protruding into the left outflow tract and atrium. The mitral valve was atretic. Macroand microscopically, both lungs appeared highly immature. The neuropathological examination revealed a subependymal giant cell astrocytoma. The 19 year old patient showed multiple typical dermatological symptoms such as Adenoma Sebaceum, KoenenTumour, Shagreen patch and an ash leaf spot. According to the tuberous sclerosis consensus conference, the disease was confirmed in both the mother and the stillborn. However, molecular analysis did not reveal one of the two known genes of tuberous sclerosis. BJOG: an International Journal of Obstetrics and Gynaecology December 2004, Vol. 111, pp. 1478–1480
Retina Consultants Of Charleston - One of the best experts on this subject based on the ideXlab platform.
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Walsh & Hoyt: Clinical Features
Spencer S. Eccles Health Sciences Library University of Utah, 2005Co-Authors: John Kerrison, Retina Consultants Of CharlestonAbstract:The traditional triad of findings for the clinical diagnosis of tuberous sclerosis consists of mental retardation, epilepsy, and Adenoma Sebaceum. Broader recognition of the multiple organs involved in this disease subsequently resulted in more widely applicable diagnostic criteria. These criteria include cutaneous, ocular, and neurologic manifestations, as well as less common visceral lesions and systemic abnormalities
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Walsh & Hoyt: Associations
Spencer S. Eccles Health Sciences Library University of Utah, 2005Co-Authors: John Kerrison, Retina Consultants Of CharlestonAbstract:It is rare for patients with the stigmata of tuberous sclerosis to also have clinical signs more commonly associated with one of the other phacomatoses. Nevertheless, Troost et al. described a 41-year-old woman with Adenoma Sebaceum, seizures, retinal hamartomas, mental retardation, and avascular masses in the liver, spleen, and kidneys. This patient also exhibited features of Klippel-Trenaunay-Weber syndrome in her left leg, including cutaneous capillary angiomas, superficial venous varicosities, an AVM, and hypertrophy. Schwartz et al. described a patient with numerous features of TSC who also had an intraretinal peripapillaryangioma similar to those observed in patients with von Hippel-Lindau disease
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Walsh & Hoyt: Diagnosis
Spencer S. Eccles Health Sciences Library University of Utah, 2005Co-Authors: John Kerrison, Retina Consultants Of CharlestonAbstract:The classic triad of seizures, mental retardation, and Adenoma Sebaceum is too restrictive criteria for the diagnosis of tuberous sclerosis. Diagnostic criteria are confounded by marked variability of the disease. No single sign is present in all affected patients, and there is no proof that any single clinical or radiographic sign is absolutely specific for TSC. In 1992, the National Tuberous Sclerosis Association proposed a diagnostic protocol based on primary, secondary, and tertiary features of the TSC. A diagnosis of definite tuberous sclerosis can be made in patients with one primary and two secondary or one secondary and two tertiary features of the tuberous sclerosis complex. A diagnosis of probable tuberous sclerosis is made in patients with one secondary and one tertiary or with three tertiary features of the disease. A diagnosis of suspected tuberous sclerosis is made in patients with one secondary or two tertiary features of the tuberous sclerosis complex. Histologic confirmation of a lesion is not necessary if the appearance is characteristic. Because retinal hamartomas are a primary feature of TSC, a complete ophthalmologic examination is of paramount importance in the diagnosis of definite, probable, and suspected tuberous sclerosis
M. Schmidt - One of the best experts on this subject based on the ideXlab platform.
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Ventricular outflow obstruction, valve aplasia, bradyarrhythmia, pulmonary hypoplasia and non-immune fetal hydrops because of a large rhabdomyoma in a case of unknown tuberous sclerosis: a prenatal diagnosed cardiac rhabdomyoma with multiple symptoms
BJOG : an international journal of obstetrics and gynaecology, 2004Co-Authors: K. O. Kagan, M. Schmidt, U. Kuhn, R. KimmigAbstract:Cardiac tumours are very rare in intrauterine life and early infancy. Their prenatal incidence in screening examinations is estimated as 9/100,000 in a mixed group of high and low risk pregnancies but increases to 2/1000 in centres for paediatric cardiology. The most common type of tumour in this group is rhabdomyoma with about 70– 80% of all cardiac tumours in clinical series and about 40% in autopsy series. Von Recklinghausen was the first to describe a cardiac rhabdomyoma in a stillborn in 1862. Bourneville coined the term ‘tuberous sclerosis’ 18 years later. Especially in early infancy and intrauterine life, cardiac rhabdomyomas are associated with tuberous sclerosis in 50%. The incidence of rhabdomyoma in patients with tuberous sclerosis differs from 43% to 72%. Several case reports as well as clinical studies have described the appearance of rhabdomyoma in different conditions. We report a case of fetal rhabdomyoma accompanied by a combination of multiple fetal symptoms, which led to a new diagnosis of tuberous sclerosis in the mother. We present the case of a 19 year old primigravida without any previous history of diseases or pregnancy complications. The fetal cardiac tumour was first noticed during an ultrasound screening at 22 þ 2 weeks of gestation. At this time, the fetus showed prolonged episodes of bradycardia and had a pericardial effusion. A MRI suggested a cardiac rhabdomyoma and showed the tumour inside the left ventricular wall with a diameter of 19 mm. We first examined the fetus at 28 þ 0 weeks of gestation. Ultrasound showed all signs of fetal hydrops. The rhabdomyoma was 40 35 32 mm in size and was located inside the left ventricular wall. The size of the heart was 55 36 35 mm. As you can see in the ultrasound figure attached, the left outflow tract was completely obstructed by the tumour protruding into the left ventricle and the atrium. The mitral valve was fully displaced; the aortic valve appeared to be hypoplastic. The structure of the right ventricle was not affected (see Fig. 1). Both lungs seemed hypoplastic. The heart rate was about 130/minute with a few supraventricular extrasystoles. There was reversed blood flow through the foramen ovale. The ductus arteriosus was prominent and showed a regular blood flow. The ascending aorta as well as the aortic arch showed a reversed flow pattern. Doppler measurements of the descending aorta and the umbilical artery showed a normal pattern. The a-wave of the ductus venosus was positive, however, the pulsatility index was elevated. No venous pulsation was observed. We discussed the findings and the prognosis closely with the parents and the paediatric cardiologists. The parents decided to continue pregnancy but not to have close sonographic surveillance. The fetus died four weeks later at 32 weeks of pregnancy. The autopsy and histological examination confirmed the prenatal diagnosis of the suspected rhabdomyoma protruding into the left outflow tract and atrium. The mitral valve was atretic. Macroand microscopically, both lungs appeared highly immature. The neuropathological examination revealed a subependymal giant cell astrocytoma. The 19 year old patient showed multiple typical dermatological symptoms such as Adenoma Sebaceum, KoenenTumour, Shagreen patch and an ash leaf spot. According to the tuberous sclerosis consensus conference, the disease was confirmed in both the mother and the stillborn. However, molecular analysis did not reveal one of the two known genes of tuberous sclerosis. BJOG: an International Journal of Obstetrics and Gynaecology December 2004, Vol. 111, pp. 1478–1480
U. Kuhn - One of the best experts on this subject based on the ideXlab platform.
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Ventricular outflow obstruction, valve aplasia, bradyarrhythmia, pulmonary hypoplasia and non-immune fetal hydrops because of a large rhabdomyoma in a case of unknown tuberous sclerosis: a prenatal diagnosed cardiac rhabdomyoma with multiple symptoms
BJOG : an international journal of obstetrics and gynaecology, 2004Co-Authors: K. O. Kagan, M. Schmidt, U. Kuhn, R. KimmigAbstract:Cardiac tumours are very rare in intrauterine life and early infancy. Their prenatal incidence in screening examinations is estimated as 9/100,000 in a mixed group of high and low risk pregnancies but increases to 2/1000 in centres for paediatric cardiology. The most common type of tumour in this group is rhabdomyoma with about 70– 80% of all cardiac tumours in clinical series and about 40% in autopsy series. Von Recklinghausen was the first to describe a cardiac rhabdomyoma in a stillborn in 1862. Bourneville coined the term ‘tuberous sclerosis’ 18 years later. Especially in early infancy and intrauterine life, cardiac rhabdomyomas are associated with tuberous sclerosis in 50%. The incidence of rhabdomyoma in patients with tuberous sclerosis differs from 43% to 72%. Several case reports as well as clinical studies have described the appearance of rhabdomyoma in different conditions. We report a case of fetal rhabdomyoma accompanied by a combination of multiple fetal symptoms, which led to a new diagnosis of tuberous sclerosis in the mother. We present the case of a 19 year old primigravida without any previous history of diseases or pregnancy complications. The fetal cardiac tumour was first noticed during an ultrasound screening at 22 þ 2 weeks of gestation. At this time, the fetus showed prolonged episodes of bradycardia and had a pericardial effusion. A MRI suggested a cardiac rhabdomyoma and showed the tumour inside the left ventricular wall with a diameter of 19 mm. We first examined the fetus at 28 þ 0 weeks of gestation. Ultrasound showed all signs of fetal hydrops. The rhabdomyoma was 40 35 32 mm in size and was located inside the left ventricular wall. The size of the heart was 55 36 35 mm. As you can see in the ultrasound figure attached, the left outflow tract was completely obstructed by the tumour protruding into the left ventricle and the atrium. The mitral valve was fully displaced; the aortic valve appeared to be hypoplastic. The structure of the right ventricle was not affected (see Fig. 1). Both lungs seemed hypoplastic. The heart rate was about 130/minute with a few supraventricular extrasystoles. There was reversed blood flow through the foramen ovale. The ductus arteriosus was prominent and showed a regular blood flow. The ascending aorta as well as the aortic arch showed a reversed flow pattern. Doppler measurements of the descending aorta and the umbilical artery showed a normal pattern. The a-wave of the ductus venosus was positive, however, the pulsatility index was elevated. No venous pulsation was observed. We discussed the findings and the prognosis closely with the parents and the paediatric cardiologists. The parents decided to continue pregnancy but not to have close sonographic surveillance. The fetus died four weeks later at 32 weeks of pregnancy. The autopsy and histological examination confirmed the prenatal diagnosis of the suspected rhabdomyoma protruding into the left outflow tract and atrium. The mitral valve was atretic. Macroand microscopically, both lungs appeared highly immature. The neuropathological examination revealed a subependymal giant cell astrocytoma. The 19 year old patient showed multiple typical dermatological symptoms such as Adenoma Sebaceum, KoenenTumour, Shagreen patch and an ash leaf spot. According to the tuberous sclerosis consensus conference, the disease was confirmed in both the mother and the stillborn. However, molecular analysis did not reveal one of the two known genes of tuberous sclerosis. BJOG: an International Journal of Obstetrics and Gynaecology December 2004, Vol. 111, pp. 1478–1480