Subject(s)
Arrhythmias, Cardiac , Cardiomyopathies , Ectodermal Dysplasia , Adolescent , Adult , Child , Humans , Middle Aged , SyndromeABSTRACT
Cardiac abnormalities were identified in patients with familial palmoplantar keratosis. All of them were descended from families on the Greek island of Naxos. Four families were studied and nine cases of palmoplantar keratosis were identified; seven of them showed symptoms and signs of heart disease. Cardiomegaly on chest x ray and electrocardiographic abnormalities were common findings. Three cases had episodes of ventricular tachycardia and a fourth patient died suddenly. All patients with cardiac signs and symptoms showed echocardiographic enlargement of the right ventricle and a right ventricular band; in three the left ventricle was also affected.
Subject(s)
Heart Diseases/complications , Keratoderma, Palmoplantar/genetics , Adolescent , Adult , Arrhythmias, Cardiac/complications , Child , Echocardiography , Electrocardiography , Female , Greece , Humans , Keratoderma, Palmoplantar/complications , Male , PedigreeABSTRACT
On the occasion of a double heterozygote case of D haemoglobinopathy/beta-thalassaemia (D thalassaemia) from Epirus (Greece), a family study was performed. It comprised 18 members, belonging to 3 generations, and revealed the presence of an additional D thalassaemia case, 4 D haemoglobinopathy heterozygotes, 5 beta-thalassaemia heterozygotes and 7 normal persons. The D thalassaemia cases were initially considered as Hb D homozygotes, according to their electrophoretic phenotype; the family study, however, showed the true nature of their stigmata. These patients presented with mild jaundice, splenomegaly and moderate anaemia, while the Hb D heterozygotes was asymptomatic.
