Heart-hand syndrome

Abstract

We have studied members of three generations of the same family affected by brachydactyly, which is accompanied by intraventricular conduction defects in three cases (proband's father and two of his sons) and sick sinus syndrome in the proband. The brachydactyly described affects mainly the middle phalanges of both hands; the index and fifth fingers are more severely affected than the other fingers. It also includes a rare variant with an ossicle on the proximal phalanx of both index fingers, which reduces them in length and causes them to deviate towards the ulnar border of the hand. The feet also tend to be affected, but to a lesser degree. No other pathological findings were recorded. It is therefore suggested that the anomalies detected in this family are transmitted by an autosomal dominant mode of inheritance, thus forming a syndrome.

Lateral thinking in syndromic congenital cardiovascular disease

“…Heart-hand syndrome type 3 (also known as Spanish type; OMIM # ) features the characteristic upper limb deformities and congenital heart defects. Affecting three individuals of a single Spanish family, no causative gene has been assigned to the condition to date ( Ruiz de la Fuente and Prieto, 1980 ). Additional orphan diseases that primarily present as congenital heart and limb defects include patent ductus arteriosus and bicuspid aortic valve with hand anomalies (OMIM # ) ( Gelb et al, 1999 ) and long-thumb brachydactyly syndrome (OMIM # ) ( Gelb et al, 1999 ; Hollister and Hollister, 1981 ) ( Table 2 ).…”

Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation

“…Congenital heart disorders can represent isolated anomalies or be a part of complex syndromic phenotypes. “Heart–hand” syndromes (HHSs) are a group of rare congenital clinical conditions, where patients in addition to cardiac pathology (congenital heart defect and/or arrhythmic disorder) present with various abnormalities of limb skeleton, as well as additional dysmorphia ( Holt and Oram, 1960 ; Ruiz de la Fuente and Prieto, 1980 ; Hollister and Hollister, 1981 ; Silengo et al, 1990 ; Šinkovec et al, 2005 ). Genetic basis of “heart–hand” type syndromes and phenotypically similar pathologies remains poorly understood with only a few causative genes or chromosomal loci identified.…”

“…Numerous phenotypically overlapping clinical cases were reported with undetermined genetic basis ( Ruiz de la Fuente and Prieto, 1980 ; Hollister and Hollister, 1981 ; Silengo et al, 1990 ; Morava et al, 2003 ; Demura et al, 2010 ; Nanda et al, 2010 ). Identification of new deleterious genetic variants, candidate genes and modifiers, which became possible due to high-throughput sequencing approaches and array-based comparative genome hybridization (array-CGH), proves to be helpful for meeting the diagnostic challenge and enables new insights into molecular and cellular mechanisms underlying combined limb-heart malformations ( Liu et al, 2017 ; Zaragoza et al, 2017 ).…”