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1.
Acta Clin Belg ; 74(2): 82-85, 2019 Apr.
Article in English | MEDLINE | ID: mdl-29717636

ABSTRACT

Introduction LEOPARD syndrome is a rare genetic disorder characterised by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth and sensorineural deafness. Clinical manifestations are often mild, which may result in difficult and late diagnosis. Cardiac involvement may have a significant impact on the prognosis, however, appearance of severe abnormalities such as hypertrophic cardiomyopathy usually precedes the occurrence of multiple lentigines and may be asymptomatic. Case presentation We report two cases of LEOPARD syndrome with hypertrophic cardiomyopathy in a 10-year-old girl and an 18-year-old boy. In both cases, multiple lentigines, ocular hypertelorism and growth retardation were present. The first patient was followed up at the paediatric cardiology clinic due to the risk of progression of septal hypertrophy and pressure gradient across the left ventricular outflow tract, the second patient underwent surgery for a moderate obstruction of the left ventricular outflow tract with uncomplicated post-operative follow-up. Conclusion In both presented patients, hypertrophic cardiomyopathy was clinically silent and the murmur over the precordium was the sole cardiac abnormality revealed during routine visit. A detailed cardiologic examination should be considered in the patients with suspicion of LEOPARD syndrome since the ventricular hypertrophy is thought to precede the occurrence of lentigines and progress over time.


Subject(s)
Cardiomyopathy, Hypertrophic/etiology , LEOPARD Syndrome/complications , Adolescent , Cardiomyopathy, Hypertrophic/diagnosis , Child , Female , Humans , Male
2.
Neuro Endocrinol Lett ; 36(6): 521-3, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26812294

ABSTRACT

Cardiac rhabdomyoma is the most common cardiac tumor in fetal life, accounting for 60-86% of primary fetal cardiac tumors. It is primarily benign, originating form myocardial muscles and consisting of immature myocytes. About 50-60% of these tumors are associated with tuberous sclerosis. In this report, we present the clinical course and discuss the importance of prenatal diagnosis of cardiac tumors and their follow-up after birth.

3.
Wien Klin Wochenschr ; 125(9-10): 288-90, 2013 May.
Article in English | MEDLINE | ID: mdl-23595522

ABSTRACT

Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome (BHS) presents a very rare connective tissue disorder characterized by narrow body habitus, crumpled ears, arachnodactyly, contractures, and scoliosis. In our case report, the physical examination revealed typical physical findings to determine the physical diagnosis of BHS in contrast to negative finding on DNA analysis. From clinical point-of-view, it is important to include a complex clinical approach in making the diagnosis.


Subject(s)
Abnormalities, Multiple/diagnosis , Arachnodactyly/diagnosis , Connective Tissue Diseases/congenital , Contracture/diagnosis , Child, Preschool , Humans , Male , Rare Diseases/diagnosis
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