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Holt-Oram Syndrome: a Clinical Genetic Study J Med Genet: First Published As 10.1136/Jmg.33.4.300 on 1 April 1996

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Holt-Oram Syndrome: a Clinical Genetic Study J Med Genet: First Published As 10.1136/Jmg.33.4.300 on 1 April 1996 300_0fMed Genet 1996;33:300-307 Holt-Oram syndrome: a clinical genetic study J Med Genet: first published as 10.1136/jmg.33.4.300 on 1 April 1996. Downloaded from R A Newbury-Ecob, R Leanage, J A Raebum, I D Young Abstract to clarify the spectrum of abnormalities and to A clinical and genetic study of the Holt- delineate the HOS phenotype led us to review Oram syndrome (HOS) has been carried the clinical features in our patients, and dis- out in the United Kingdom involving 55 tinguish the clinical features most helpful for cases designated Holt-Oram syndrome, counselling purposes. together with their parents and sibs. Data This study was carried out in conjunction from the clinical assessment of both fa- with a genetic linkage study which has shown milial and isolated cases were used to de- genetic heterogeneity in the Holt-Oram syn- fine the HOS phenotype and to outline drome, with one gene (HOS1) being localised the spectrum of abnormalities, especially to chromosome 12 in five out ofseven families.7 factors affecting severity. Skeletal defects No phenotypic differences could be detected affected the upper limbs exclusively and between the linked and unlinked families. were bilateral and asymmetrical. They ranged from minor signs such as clino- dactyly, limited supination, and sloping Patients and methods shoulders to severe reduction deformities The study was carried out between March 1991 of the upper arm (4.5%). The radial ray and September 1993. Cases were ascertained was predominantly affected and the left by contacting clinical geneticists and paediatric side was more severely affected than the cardiologists and through the support group right. All affected cases showed evidence of REACH, for children with upper limb de- upper limb involvement. Cardiac defects ficiency. Patients and first degree relatives were were seen in 95% of familial cases and visited at home by RNE. A detailed family included both atrial septal defect (ASD, history was taken as well as all relevant medical 34%) and ventricular septal defect (VSD, and surgical details. Patients were examined 25%); 39% had only ECG changes. Cardiac carefully for any skeletal abnormalities or dys- involvement ranged from asymptomatic morphic features. Measurements were taken of conduction disturbances to multiple struc- the upper arm, lower arm, palm, thumb, and tural defects requiring surgery in infancy. middle finger. Where possible portable elec- Sudden death could be caused by heart trocardiography was performed. Information block. Inheritance was autosomal dom- was sought from x rays, electrocardiograms http://jmg.bmj.com/ inant with 100% penetrance and no evid- (ECG), and cardiac ultrasound examinations ence ofreduced fitness. Increasing severity previously undertaken. occurred in succeeding generations con- In order to assess the severity of ab- sistent with anticipation. normalities, clinical examination data were re- (J'Med Genet 1996;33:300-307) corded using a scoring system based on that devised by Gall et al and modified by Glad- Key words: Holt-Oram syndrome; heterogeneity; ma- stone and Sybert9 (table 1). Measurements on September 26, 2021 by guest. Protected copyright. ternal effect; anticipation. were compared with age matched standards.'0 Statistical analysis was carried out using Mann- Whitney/Kruskall Wallis and Spearman Rank Several heart-hand syndromes have been iden- Correlation. tified of which the Holt-Oram (HOS) is the best known. The first formal report by Holt and was based on a four generation Oram in 1960' ASCERTAINMENT family in which the main skeletal lesion was a Sixty six affected subjects from 28 families were triphalangeal thumb; the heart defect was a Twelve families had three There referred to the study. Centre for Medical secundum atrial septal defect (ASD). or more affected members. There were 33 Genetics, City was also an unusual cardiac arrhythmia and their from Hospital, Hucknall vessels. Of males and 33 females; ages ranged Road, Nottingham evidence of hypoplastic peripheral NG5 lPB, UK nine subjects, four were confirmed as affected R A Newbury-Ecob were affected his- and five (not examined) by Table 1 Severity score system J A Raeburn ASD was in four but only con- I D Young tory. suspected one case. (ECG) Skeletal abnormalities firmed in Electrocardiography 0 No abnormality on physical or radiological examination Department of showed a variety of abnormalities including 1 Minor abnormalities including reduced thenar eminence, of the thumb Paediatric Cardiology, a long PR interval, sinus bradycardia, nodal clinodactyly, or hypoplasia Glenfield Hospital, 2 Triphalangeal or aplastic thumbs. Radial/ulnar hypoplasia Leicester, UK escape, and atrial fibrillation. Three family 3 Arms and forearms present but bone(s) missing R Leanage members had a triphalangeal thumb. The 4 Phocomelia was absent in one subject and another Cardiac abnormalities Correspondence to: thumb One case had a minor 0 Asymptomatic with no physical findings Dr Newbury-Ecob. had radial aplasia. only 1 Asymptomatic murmur or conduction defect Received 16 October 1995. anomaly of the clavicle. Subsequent reports 2 Structural heart abnormality not requiring surgery Revised version accepted have included various combinations of upper 3 Structural heart abnormality requiring surgery for publication 4 Lethal malformation 30 November 1995 limb abnormality and heart defect.`6 The need Holt-Oram syndrome: a clinical genetic study 301 Table 2 Details of cases referred to study March Table 3 Frequency and type of common upper limb and 1991-September 1993 thorax abnormalities in 55 patients with HOS Index cases 66 Abnormality No affected (%) Relatives found to be affected during study 6 Total affected cases included in study 72 Familial Isolated J Med Genet: first published as 10.1136/jmg.33.4.300 on 1 April 1996. Downloaded from Personally examined 57 n=44 n=11 Dead 5 Unavailable or insufficient details 8 Hand Total unaffected relatives 59 Total affected and unaffected 131 Thumb Absent 19 (43) 8 (73) Hypoplasia 17 (39) 4 (36) Triphalangeal 8 (18) 2 (18) Syndactyly 5 (11) 2 (18) 4 months to 70 years. Thirteen cases had Long 6 (14) 0 no Normal 7 (16) 0 family history of HOS and are referred to in Hypoplastic thenar eminence 31 this study as isolated. Fifteen patients were (70) 11 (100) not Fingers available for examination; these included five Clinodactyly 28 (64) 5 (45) affected subjects who had died whose details Brachydactyly 19 (43) 9 (82) Hypoplasia 7 (16) were obtained from family history (5) and from Absent 3 (7) 3 (27) case notes (2), PM details (2), and photographs Syndactyly 4 (9) 2 (18) (4). Twelve examined patients had not had Normal 10 (23) 0 ECG and echocardiography. Six relatives, Lower arm thought previously to be unaffected, were found Radius Hypoplasia 18 (41) 6 (55) to be affected during the study examination. Aplasia 10 (23) 3 (27) In total, 57 patients were examined. Details of Ulna the cases are given in table 2. Cases were Hypoplasia 18 (49) 2 (18) included only if the heart and radial ray defects Aplasia 0 4 (36) previously described in HOS were present in at Limited supination 27 (61) 5 (45) least one affected family member. Two patients Linmited extension elbow 22 (50) 7 (64) from one family who had upper limb ab- Normal 15 (34) 1 (9) normalities but no evidence of cardiac ab- Upper arm normality within the family were excluded from Humerus the study. Hypoplasia 20 (45) 8 (73) Abnormal head 22 (50) 7 (64) Aplasia 0 1 (9) Normal 22 (50) 1 (9) Clinical features Shoulder girdle UPPER LIMB ABNORMALITIES (TABLE 3) Clavicles Familial cases Hypoplasia 33 (78) 7 (64) Prominent acromioclavicular joint 11 (25) 5 (45) In all cases upper limb abnormalities were Normal 10 (23) 2 (18) present and were clinically detectable. The ra- Thorax dial ray was predominantly affected, with ulnar http://jmg.bmj.com/ involvement only when the radius was also Pectus excavatum 18 (41) 1 (9) involved and with a lesser degree of severity. Hypoplasia pectoralis major 29 (66) 5 (45) Transverse reduction defects were not seen. Minor abnormalities, including hypoplasia of the thenar eminence, limited supination of the on September 26, 2021 by guest. Protected copyright. forearm, and narrow sloping shoulders, oc- curred without other evidence of skeletal in- volvement. Severe reduction abnormalities were found in two familial cases (4 5%). Fig 1 shows typical hand abnormalities in HOS. Thumb The thumb was the most commonly affected structure (84%). In contrast to the largest pre- vious study,2 no patients had involvement of the thumb only. Even mild thumb hypoplasia was accompanied by hypoplasia of the thenar eminence (70%), limited supination ofthe fore- arm (61 %), or narrowing of the shoulders. Triphalangeal thumb was only found in eight patients (18%); 19 (43%) had absence of one or both thumbs. Other frequent thumb ab- normalities included a hypoplastic or rudi- mentary thumb (17, 39%) or a long thumb (D) owing to elongation of the proximal phalanx (6, 14%). Five patients (11%) had syndactyly Figure 1 Typical hand abnornalities in HOS. Hands offour affected people showing (A) bilateral opposable triphalangeal thumbs, (B) right triphalangeal thumb, left absent of the first and second digits and seven patients thumb, (C) bilateral hypoplastic thumbs, and (D) normal thumbs with fifth finger (16%) had no detectable abnormality of the clinodactyly and brachydactyly of the second to fifth fingers. thumb. 302 Newbury-Ecob, Leanage, Raeburn, Young Fingers Reduced shoulder movement, particularly ab- Hand measurements showed reduced finger duction, was found. Hypoplasia ofthe overlying length in 19 cases (43%), including four in shoulder girdle musculature, especially the pec- whom no thumb abnormality was present. toralis and the was common. major deltoids, J Med Genet: first published as 10.1136/jmg.33.4.300 on 1 April 1996. Downloaded from Hypoplasia of individual fingers (16%) most commonly involved the index and middle fin- Asymmetry.
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