Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation

Kumar, Rupesh; Mahapatra, Subhendu Sekhar; Datta, Monalisa; Hoque, Amanul; Datta, Swarnendu; Ghosh, Sayanti; Datta, S. K.; Bhattacharjee, Subhankar

doi:10.1155/2014/130617

Cited by 5 publications

(9 citation statements)

References 2 publications

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“…The association of Cardiac and upper limb abnormalities has inspired a series of names for this syndrome; such as "atriodigital dysplasia", "heart-hand syndrome", "heart upper-limb syndrome", "upper-limb cardiovascular syndrome", "Cardiac-limb syndrome", and "cardiomelic syndrome". However, it is Holt-Oram syndrome, which remained in common use [4][5][6].It is an autosomal dominant disorder, caused by a translocation with a breakpoint at chromosome 12q24.1 that inactivate the TBX5 gene, which participate in the specification of left/right ventricles and ventricular septum position during cardiogenesis [1,6,7]. The prevalence of Holt-Oram syndrome is approximately one per 100,000 births [1].…”

Section: Discussionmentioning

confidence: 99%

“…However, it is Holt-Oram syndrome, which remained in common use [4][5][6].It is an autosomal dominant disorder, caused by a translocation with a breakpoint at chromosome 12q24.1 that inactivate the TBX5 gene, which participate in the specification of left/right ventricles and ventricular septum position during cardiogenesis [1,6,7]. The prevalence of Holt-Oram syndrome is approximately one per 100,000 births [1]. The syndrome is inherited as an autosomal dominant trait occurring in families, but the literature also provides isolated case reports.…”

Section: Discussionmentioning

confidence: 99%

“…Other less common cardiac associations include pulmonary stenosis, mitral valve prolapse, Persistent ductus arteriosus, anomalous coronary arteries, persistent left superior vena cava [9,11]. Complex cardiac lesions such as tetralogy of Fallot, double outlet right ventricle and total anomalous pulmonary venous return are also noted in subjects with the Holt Oram syndrome [1,11]. Electrocardiographic abnormalities ranges from asymptomatic conduction disturbance to variable degree of atrioventricular block [1].…”

Section: Discussionmentioning

confidence: 99%

“…Complex cardiac lesions such as tetralogy of Fallot, double outlet right ventricle and total anomalous pulmonary venous return are also noted in subjects with the Holt Oram syndrome [1,11]. Electrocardiographic abnormalities ranges from asymptomatic conduction disturbance to variable degree of atrioventricular block [1]. The diagnosis is not difficult.…”

Section: Discussionmentioning

confidence: 99%

“…Its incidence is one in 100,000 live births [1]. It is an autosomal dominant condition characterized by upper limbs deformities, thumb abnormalities, in particular and cardiac malformations, especially atrial septal defects [2].…”

Section: Introductionmentioning

confidence: 99%

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Holt-Oram syndrome: a simple diagnosis that is often delayed

Bakkali

Harrag

Koulekey

et al. 2015

IJMS

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Holt-Oram syndrome is uncommon. It is characterized by heart disease and skeletal abnormalities of the hands and arms (upper limbs). This conditionis inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The most common problem is an atrial septal defect, and upper limb musculoskeletal deformities. These morphological characteristics should suggest a cardiac abnormality which is usually silent. We report isolated cases with this syndrome. Tow patients with skeletal anomalies have been survived 11 and 29 years with their congenital cardiac defects without being diagnosed in despite of their obvious upper limbs deformities. In the two cases, the diagnosis of Holt-Oram syndrome was delayed and the cardiac defects have been revealed at the stage of surgery. We will discuss the variables of the musculoskeletal abnormalities and their association with the cardiac morphological defects. Holt-Oram syndrome is a rare inherited clinical disorder. Cardiac defect should be suspected in the presence of congenital upper limb abnormalities.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Holt-Oram syndrome: a simple diagnosis that is often delayed

Bakkali

Harrag

Koulekey

et al. 2015

IJMS

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Brachydactyly and atrial septal defect: When the digits point to the heart

Siniorakis

Arvanitakis

Tzevelekos

et al. 2014

International Journal of Cardiology

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p300 in Cardiac Development and Accelerated Cardiac Aging

Ghosh

2020

Aging and disease

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The heart is the first functional organ that develops during embryonic development. While a heartbeat indicates life, cessation of a heartbeat signals the end of life. Heart disease, due either to congenital defects or to acquired dysfunctions in adulthood, remains the leading cause of death worldwide. Epigenetics plays a key role in both embryonic heart development and heart disease in adults. Stress-induced vascular injury activates pathways involved in pathogenesis of accelerated cardiac aging that includes cellular dysfunction, pathological cardiac hypertrophy, diabetic cardiomyopathy, cardiac matrix remodeling, cardiac dysfunction and heart failure. Acetyltransferase p300 (p300), a major epigenetic regulator, plays a pivotal role in heart development during embryogenesis, as deficiency or abnormal expression of p300 leads to embryonic death at early gestation periods due to deformation of the heart and neural tube. Acetyltransferase p300 controls heart development through histone acetylation-mediated chromatin remodeling and transcriptional regulation of genes required for cardiac development. In adult hearts, p300 is differentially expressed in different chambers and epigenetically controls cardiac gene expression. Deregulation of p300, in response to prohypertrophic and profibrogenic stress signals, is associated with increased recruitment of p300 to several genes including transcription factors, increased acetylation of specific lysines in histones and transcription factors, altered chromatin organization, and increased hypertrophic and fibrogenic gene expression. Cardiac hypertrophy and myocardial fibrogenesis are common pathological manifestations of several stress-induced accelerated cardiac aging-related pathologies, including high blood pressureinduced or environmentally induced cardiac hypertrophy, myocardial infarction, diabetes-induced cardiomyopathy, and heart failure. Numerous studies using cellular and animal models clearly indicate that pharmacologic or genetic normalization of p300 activity has the potential to prevent or halt the progression of cardiac aging pathologies. Based on these preclinical studies, development of safe, non-toxic, small molecule inhibitors/epidrugs targeting p300 is an ideal approach to control accelerated cardiac aging-related deaths worldwide.

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Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation

Cited by 5 publications

References 2 publications

Holt-Oram syndrome: a simple diagnosis that is often delayed

Holt-Oram syndrome: a simple diagnosis that is often delayed

Brachydactyly and atrial septal defect: When the digits point to the heart

p300 in Cardiac Development and Accelerated Cardiac Aging

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