Ectrodactyly (Split-hand/split-foot malformation) with sudden Cardiac Arrest: A case report
Keywords:
Ectrodactyly; Split-hand/split-foot malformation (SHFM); Congenital limb malformation; Sudden cardiac arrest; Genetic disorder; Familial cardiac death; Inherited syndrome; Case report.Abstract
Ectrodactyly or Split-hand/split-foot malformation (SHFM) is a
genetic disorder characterized by the complete or partial
absence of some fingers or toes which have been fused
together, often combined with clefts. This is a report of a 60 year old patient with SHFM and a family history of high mortality rate from cardiac arrest at a
comparable age. He revealed to us that three third-degree male
relatives (first cousins) and also the mother, the sister and one
aunt of the patient with similar limp malformations had all died
around the age of 60 from cardiac arrest, while none of them
have ever had any clinical complaints or laboratory findings of
cardiological problems.Cardiovascular examination of the patient, failed to reveal any abnormalities. The patient had SHFM in both hands (Panel A)
and in his right foot (Panel B).
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Copyright (c) 2018 Effrosyni Koutsouraki, Dimitrios Michmizos, Dimitrios Daskalou, Eleni Antoniadou, Marianthi Arnaoutoglou (Author)
This work is licensed under a Creative Commons Attribution 4.0 International License.
© The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International (CC BY 4.0) License. This license permits unrestricted use, distribution, reproduction, adaptation, and commercial use in any medium, provided that appropriate credit is given to the original author(s) and the source, a link to the license is provided, and any changes made are indicated.
