Case Presentation


    An 18-year-old female student was referred for re-evaluation of a heart murmur in respect to her wish to enter law enforcement upon her graduation from high school. She had no symptoms aside from the progression of the “freckling”, which had been present at birth. She was described by her parents as being somewhat sedentary, less interested in participation in family oriented sports than her older brother and younger sister. She had always been smaller than either of her siblings at comparable ages, and was among the smallest of her classmates, but was considered developmentally normal. Her school performance was low, which was attributed to a hearing deficiency and she had to be placed near her teacher in class.

   Past medical history revealed that at four months of age, a heart murmur was detected at her first well child examination. She was born at term weighing 2.43 kg, length 45 cm, both less than the third percentile. The findings were those of an underveloped female infant who weighed 4.4 kg, length 56 cm. “A number of cutaneous ‘moles’, which had been present at birth” were noted. A grade 2/6 systolic murmur in the upper precordium was considered by the cardiologist to represent “a valvular abnormality.” CXR was normal for age. The electrocardiogram suggested both right and left ventricular hypertrophy. The family declined further study and kept no further appointments.

   Physical examination revealed a diminutive adolescent female; weight 36.4 kg, height 151 cm. The skin was covered with a profusion of lentigines (Fig.1) with both palmar and plantar pigmentations present; several larger moles measured 1.0 - 1.5 cms. BP was 88/54 mm Hg; the peripheral pulses were unremarkable. There was no precordial lift or heave, but a soft systolic thrill was felt at the suprasternal notch. An ejection click altered the first heart sound at the mid-upper left sternal edge; the second sound appeared normal. No extra sounds were detected. A grade 3/6 ejection systolic murmur was present in the left superior precordium and suprasternal notch. A second short nonspecific systolic murmur was heard at the apical area. The remainder of the physical examination was normal.

   The electrocardiogram revealed right ventricular hypertrophy, left ventricular hypertrophy, and flat-inverted T waves in the left precordial leads. CXR was normal. The diagnosis of the leopard or multiple lentigines syndrome associated with probable pulmonary stenosis and a left ventricular myopathic process was made. Because of the desire of the patient to enter a physically demanding training situation, cardiac catheterization was recommended as a requisite for any recommendation that might be made in respect to it.

   Cardiac catheterization confirmed moderate valvular pulmonary stenosis with peak systolic gradient of 33 mmHg. In addition, a trivial gradient within the left ventricle of 10 - 15 mmHg could be provoked, but no resting gradient was present. Simultaneous biventricular angiogram (Fig.2) revealed hypertrophy involving the mid and inferior aspects of the interventricular septum, but no evident left ventricular outflow obstruction. The pulmonic valve was thickened with mild narrowing of the RV infundibulum.

   On the basis of these findings she was refused a recommendation to the police-training program and no further appointments were kept.

 

Fig.1 shows a profusion of lentigines covering the skin.

 

Fig. 2. Simultaneous biventricular angiogram. shows hypertrophy involving the mid and inferior aspects of the interventricular septum but no evident left ventricular outflow obstruction. Arrow indicates thickened pulmonary valve with mild narrowing of the RV infundibulum. (RV = right ventricle; LV = left ventricle; S = interventricular septum; in = infundibulum)

Discussion


   The term leopard syndrome is a rather fanciful acronym for a cardiocutaneous syndrome, which also has neurocutaneous implications (1-3). As can be seen, several of the components comprising the acronym are somewhat loosely applied. But what is lacking in specificity is made up for in recallability. The striking cutaneous findings, i.e., multiple lentigines on the neck and trunk, immediately draw one’s attention and are the hallmark of the condition. Lentigines are usually present at birth, are darker in color than common freckles, and do not change with sun exposure. They do increase in number with age and can occur on any part of the body (4).

   Histologically, these pigmentations reveal intracellular giant pigment granules similar to those found in neurofibromatosis, thus defining the previously mentioned relationship of the syndrome to the other neurocutaneous syndromes (3) and differentiating it from simple freckling.

   Of the other constituents comprising the syndrome, only the cardiomyopathy may prove truly serious in any given patient, although, in the male, cryptorchidism may cause sterility.
The patient presented had the characteristics of the syndrome as it has been described. It is distinctly unusual, with approximately 75 cases reported at the time of the most extensive review in 1990 (5). Gorlin et al first described the syndrome in 1969 and they suggested the acronym LEOPARD as a mnemonic for the findings of this condition (6).

   Transmitted as an autosomal dominant pattern with variable expression, males and females are equally affected. It is transmitted by both sexes, but males may have reduced reproductive fitness if genital malformation is present. Gene linkage and mapping information is not yet available.


References:


1. Polani PE, Moynahan EJ. Progressive cardiopathic lentigines. O J Med 1972; 41:205-225.

2. John Sutton MG. Hypertrophic obstructive cardiomyopathy and l entiginosis: a little known neural ectodermal syndrome. Am J Cardiol 1981;47:214-217.

3. Seuanez H. Cardio-cutaneous syndrome (the “LEOPARD” syndrome): review of the literature and a new family. Clin Genet 1976;9:266 - 276.

4. Towen JA, Greenberg F. Genetic syndromes and clinical molecular genetics. In: Garson A Jr, Bricker JT, Fisher DJ, Neish SR, eds. The science and practice of pediatric cardiology. Vol 2. Philadelphia: Williams & Wilkins, 1998:2627 – 2699.

5. Gorlin RJ: Lentiginosis syndrome, multiple. In: Buyse ML (ed.). Birth Defects Encyclopedia. Dover Center for Birth Defects Information Services, Inc, 1990:1042-1043.

6. Gorlin RJ, Anderson RC, Blaw M. Multiple lentigines syndrome: complex comprising multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, sensorineural deafness and autosomal dominant hereditary pattern. Am. J. Dis. Child. 1969; 117: 652-662.
 

                                                              Music Is Good Medicine

 

It has been known for a long time that music can directly influence pulse, blood pressure, and the electrical activity of muscles. In 1995, researchers found that listening to Mozart before an IQ test boost scores by roughly nine points.    Recently, researchers are finding out that music can have a variety of therapeutic effects. Stroke victims and patients with Parkinson’s disease exposed to 30 minutes of rhythmic stimulation daily show significant improvements in their ability to walk.    Music therapy has been found beneficial in various disease states. A daily dose of Mozart given to chronically ill and depressed patients made them more cheerful, stable, and sociable. It has also been shown to boost the immune function in children. Premature babies exposed to lullabies in the hospital also went home earlier    Researches at Abbott Northwestern Hospital in Minneapolis are studying the effects music has on patients after open-heart surgery. Three days in a row after surgery, patients listen to music two times a day – in the morning and afternoon. The music is pre-determined, but patients can choose from three music styles. Blood pressure, heart rate, and anxiety pain levels are measured before and after patients listen to music. Patients’ use of pain medication while they are in the hospital is monitored. Depending on the study’s results, music therapy might become part of standard treatment for open-heart surgery patients.   No one knows how music works. Neuroscientists now suspect that music can actually help build and strengthen connections among nerve cells in the cerebral cortex.    So, harness the magic of music as adjunctive therapy and prescribe music to your patients – it will not cost them much. And when you get home, pop in a CD, turn up the soothing sounds, and RELAX.