Cardiac Malformations Associated with the Holt-Oram Syndrome - Report on a Family and Review of the Literature

Bossert, Torsten; Walther, Thomas; Gummert, Jan; Hubald, R.; Kostelka, Martin; Mohr, F. W.

doi:10.1055/s-2002-34573

Cited by 36 publications

(17 citation statements)

References 20 publications

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“…[9] Holt–Oram syndrome features abnormalities of the upper limbs and heart. [10] Mutations in TFAP2B, which encodes a neural crest-derived transcription factor, can cause the abnormalities in Char syndrome, characterized by PDA, facial dysmorphism, and skeletal abnormalities of the hand. [11] CHARGE syndrome (Coloboma of the eye, Heart defects (including PDA), Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and/or deafness) is a specific collection of nonrandomly occurring congenital anomalies caused by heterozygous mutation of CHD7 transmitted in an autosomal-dominant manner.…”

Section: Discussionmentioning

confidence: 99%

Familial clustering of congenital deafness, patent ductus arteriosus, Eisenmenger complex, and differential cyanosis

et al. 2017

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Rationale:Few studies had reported syndromes that include patent ductus arteriosus (PDA) with Eisenmenger syndrome and congenital deafness clustered in male siblings without facial, skeletal, or mental abnormalities.Patient concerns:Two brothers, who were deaf and had PDA with Eisenmenger complex, were first seen at our Cardiology clinic at the ages of 25 and 41, respectively. They presented with progressive dyspnea on exertion. Upon physical examination, both brothers had clubbing and/or cyanotic toes, normal fingers, and without facial, skeletal, ophthalmological, or mental abnormalities.Diagnoses and interventions:Echocardiography and multidetector computed tomography revealed large PDAs in both brothers. Cardiac catheterization showed bidirectional shunting via the PDA.Outcomes and lessons:Familial clustering of Eisenmenger PDA and congenital deafness is rare. Further studies are warranted to define possible genetic links.

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Section: Discussionmentioning

confidence: 99%

Familial clustering of congenital deafness, patent ductus arteriosus, Eisenmenger complex, and differential cyanosis

et al. 2017

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“…Skeletal anomalies typically affect the upper limbs and range from phocomelia to subtle abnormalities of the radial ray, such as a triphalangeal or bifid thumb and radial‐ulnar anomalies. Cardiac anomalies vary from simple atrial or ventricular septal defects to major left heart lesions (hypoplastic left heart syndrome or coarctation of the aorta) and conotruncal defects (tetralogy of Fallot, common arterial trunk, double outlet right ventricle).…”

Section: Discussionmentioning

confidence: 99%

Unexplained right atrial enlargement may be a sign of Holt–Oram syndrome in the fetus

Paladini

Tiesi

Buffi

et al. 2014

Ultrasound in Obstet & Gyne

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CASE REPORTS Case 1In this case, the couple had been referred to our center for prenatal diagnosis because the mother was affected by Holt-Oram syndrome. Since the referral was in the second trimester, targeted ultrasound and fetal echocardiography were performed at the time of amniocentesis. The skeletal abnormality consisted of a bifid thumb, while an enlarged right atrium, not associated with tricuspid insufficiency, was detected on fetal echocardiography (Figure 1). The results of molecular analysis on amniocytes confirmed that the fetus was affected by Holt-Oram syndrome and the couple opted for termination of pregnancy. Case 2A pregnant woman was referred to our center at 22 weeks of gestation because of fetal ventricular disproportion and right atrial enlargement. In this case, on fetal echocardiography, a large foramen ovale flap and significant enlargement of the right atrium were noted (Figure 2a). Tricuspid regurgitation was also absent in this case. On follow-up echocardiography carried out at 28 gestational weeks, the right atrial enlargement was confirmed and, in addition, two tiny muscular ventricular septal defects were detected (Figures 2b and c). The pregnancy went to term and a female neonate weighing 3030 g was delivered by Cesarean section. The neonate was clinically stable, but on external examination a threephalangeal thumb was noted. Neonatal echocardiography confirmed both the right atrial enlargement and the two small muscular ventricular septal defects. The foramen ovale remained patent and follow-up echocardiography

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“…3,4,12 Cardiac defects are also characteristic, with atrial septal defects of the ostium secundum type being the most frequently found. 5,13 In a review of the literature involving 189 cases of HOS, single cardiovascular malformations such as atrial and ventricular septal defects were found in 125 patients (66%). However, more complex cardiac defects such as a hypoplastic left heart, total anomalous pulmonary venous return, and truncus arteriosus were reported in an additional 33 patients (17%), suggesting that severe cardiovascular malformations other than septal defects in patients with HOS have been underestimated.…”

Section: Discussionmentioning

confidence: 99%

Holt‐Oram Syndrome

Sepúlveda

Enríquez

Martínez

et al. 2004

J of Ultrasound Medicine

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Cardiac Malformations Associated with the Holt-Oram Syndrome - Report on a Family and Review of the Literature

Cited by 36 publications

References 20 publications

Familial clustering of congenital deafness, patent ductus arteriosus, Eisenmenger complex, and differential cyanosis

Familial clustering of congenital deafness, patent ductus arteriosus, Eisenmenger complex, and differential cyanosis

Unexplained right atrial enlargement may be a sign of Holt–Oram syndrome in the fetus

Holt‐Oram Syndrome

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