Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Holt-Oram syndrome is an autosomal dominant disorder characterized by heart defects in combination with characteristic upper-limb abnormalities. A woman with no family history of genetic diseases underwent prenatal sonography at 25 weeks' menstrual age to screen for fetal anomalies. Sonography revealed abnormalities in the upper limbs and heart. The limb abnormalities included bilateral absence of radii and thumbs: the left hand had no carpal or metacarpal bones, and each of the 4 fingers on that hand had only 1 phalangeal bone. Cardiac malformations included an atrial septal defect and Ebstein's anomaly. Other structures were normal. Prenatal cytogenetic analysis by cordocentesis revealed a normal 46,XY karyotype. Spontaneous labor and delivery at 34 weeks' menstrual age produced a 1,960-g male infant who died of cardiac insufficiency shortly after birth. The postnatal appearance and autopsy findings confirmed the prenatal findings. In this case, Holt-Oram syndrome was readily diagnosed by prenatal sonography.
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PMID:Prenatal sonographic diagnosis of Holt-Oram syndrome. 1064 Oct 8

We report on a case of a 60-year-old man with progressive heart failure, mitral and aortic valve insufficiency and bilateral asymmetrical skeletal upper-limb deformities. Central to the suspicion of Holt-Oram syndrome in this patient was the surgical finding of agenesis of the left pericardium. A Holt-Oram syndrome diagnostic was confirmed through molecular analysis of the TBX5 gene. A new amino acid substitution at position 61 of the TBX5 gene was identified and confirmed the clinical diagnosis of Holt-Oram syndrome. The clinical presentation of the present case broadens the clinical spectrum of Holt-Oram syndrome and point out the importance of Tbx 5 in pericardium development. It is still an unstudied issue whether TBX5 mutations may also be present in other clinical presentations where absence of the pericardium is a feature.
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PMID:Holt-Oram syndrome presenting as agenesis of the left pericardium. 1637 38

A 23-year-old female patient with malignant pheochromocytoma was admitted to the Tokyo Women's Medical University. The patient had been clinically diagnosed with Holt-Oram syndrome at birth. Since she had complex congenital heart disease, chronic heart failure, and severe hypoxia, the risk surrounding surgery to remove the primary tumor was predicted to be very high, and subsequently, chemotherapy was performed. The patient was not able to continue chemotherapy due to adverse effects. However, for one year, both her hypertension and catecholamine-dependent symptoms were well controlled by an alpha-adrenergic and beta-adrenergic receptor blockade, although the patient did experience high plasma norepinephrine levels. To our knowledge, this is the first report of a patient with the combination of malignant pheochromocytoma and Holt-Oram syndrome. A correlation between chronic hypoxia and pheochromocytoma has been reported. This instructive case reminds us to consider the possibility of pheochromocytoma with congenital heart disease when these types of unexpected or unusual symptoms are encountered.
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PMID:A case of malignant pheochromocytoma with Holt-Oram syndrome. 1825 May 43

At the end of every heartbeat, cardiac myocytes must relax to allow filling of the heart. Impaired relaxation is a significant factor in heart failure, but all pathways regulating the cardiac relaxation apparatus are not known. Haploinsufficiency of the T-box transcription factor Tbx5 in mouse and man causes congenital heart defects (CHDs) as part of Holt-Oram syndrome (HOS). Here, we show that haploinsufficiency of Tbx5 in mouse results in cell-autonomous defects in ventricular relaxation. Tbx5 dosage modulates expression of the sarco(endo)plasmic reticulum Ca(2+)-ATPase isoform 2a encoded by Atp2a2 and Tbx5 haploinsufficiency in ventricular myocytes results in impaired Ca(2+) uptake dynamics and Ca(2+) transient prolongation. We also demonstrate that Tbx5 can activate the Atp2a2 promoter. Furthermore, we find that patients with HOS have significant diastolic filling abnormalities. These results reveal a direct genetic pathway that regulates cardiac diastolic function, implying that patients with structural CHDs may have clinically important underlying anomalies in heart function that merit treatment.
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PMID:Tbx5-dependent pathway regulating diastolic function in congenital heart disease. 1837 6

We describe clinical presentation in a male newborn baby who presented with thumb aplasia, forearm hypoplasia and secundum atrial septal defect (ASD II). The child has no other bone anomalies or facial dysmorphism. The ultrasound morphology of the brain is normal. He has patent ductus arteriosus, without abnormalities in the ECG record. Complete blood count (CBC) is normal. In the spectrum of hereditary diseases from the group "heart-hand", clinical presentation in our patient corresponds to Holt-Oram syndrome (HOS). The role of the neonatologist in case of anomalies of the thumb or upper limb, is to exclude possible heart failure and instruct parents about timely, interdisciplinary care for the child.
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PMID:[Holt-Oram syndrome--the importance of early diagnosis and interdisciplinary approach. A case report]. 2360 71

Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Its incidence is one in 100,000 live births. Approximately three out of four patients have some cardiac abnormality with common associations being either an atrial septal defect or ventricular septal defect. Herein, we report a rare sporadic case of Holt-Oram syndrome with atrial septal defect with symptoms of heart failure in a forty-five-year-old lady who underwent emergency cardiac surgery for the symptoms.
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PMID:Holt-oram syndrome in adult presenting with heart failure: a rare presentation. 2482 4