Hypertrophic cardiomyopathy due to beta-myosin heavy chain mutation with extreme phenotypic variability within a family.

Hypertrophic cardiomyopathy (HCM) affects 1 in 500 persons and shows high variability in severity of disease, in genetic heterogeneity and phenotypic patterns. Many affected individuals remain undetected throughout their lives. In this case report a family with proven beta-myosin heavy chain mutation (MYH7) with 3 affected family members with huge phenotypic variability is described. The index patient (male, age 21 years) has severe phenotypic expression with a pathological ECG and maximal septal wall thickness of 29 mm, there is no significant obstruction in the left ventricular outflow tract. The sister (age 16 years), mutation carrier, has no detectable hypertrophy and no ECG changes. The mother (age 44 years), also carrying the mutation, has a normal ECG and shows only mild septal hypertrophy of 12 mm and systolic anterior motion of her mitral valve chordae with no gradient. The maternal grandmother died suddenly at age 65 years of presumed coronary artery disease, and the maternal great-grandmother had a sudden cardiac death at age 50 years of unknown etiology. To conclude, this family shows impressively the wide spectrum of phenotypic presentation and outcome in one family.

Partial and total anomalous pulmonary venous connection in the fetus: two-dimensional and Doppler echocardiographic findings.

OBJECTIVE: Prenatal diagnosis of total (TAPVC) or partial (PAPVC) anomalous pulmonary venous connection in isolation or associated with other cardiac disease is important for appropriate prenatal counseling and perinatal management. We sought to assess the echocardiographic clues to the fetal diagnosis of TAPVC and PAPVC in a cohort of affected fetuses. METHODS: We retrospectively reviewed 29 fetal echocardiograms performed in 16 pregnancies with fetal TAPVC or PAPVC, systematically analyzing heart chamber size, presence of a confluence behind the left atrium or of a vertical vein, and Doppler flow patterns. RESULTS: Prenatal diagnosis was made at a mean gestational age of 27 +/- 7 weeks. TAPVC was found in 11 cases; five cases for each of supracardiac and infracardiac types and one mixed type. PAPVC was diagnosed in five fetuses, four of which had scimitar syndrome. Ten fetuses had an additional major cardiac defect, including hypoplastic left heart syndrome and right atrial isomerism. In three cases the prenatal diagnosis was only made at follow-up assessment. Among TAPVC cases, visualization of a confluence behind the left atrium (10/11) and a vertical vein (11/11) were the most consistent echocardiographic clues. Dextrocardia and a small right pulmonary artery suggested scimitar syndrome. The diagnosis was confirmed postnatally or at autopsy in 12 cases. In six fetuses with TAPVC and obstruction confirmed postnatally, continuous turbulent flow in the vertical vein and monophasic continuous flow in the pulmonary veins were demonstrated by color and spectral Doppler. CONCLUSIONS: Fetal echocardiography permits prenatal diagnosis of TAPVC or PAPVC. Spectral and color Doppler provide clues to the presence of an obstructed pulmonary venous pathway.

Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.

UNLABELLED: Trichothiodystrophy or sulphur-deficient brittle hair is a clinical marker for several autosomal recessive neurocutaneous syndromes. The typical hair abnormality is frequently associated with many alterations affecting the skin, nervous system, eyes and bones as well as the immune, gonadal and endocrine systems. We report the first cases of dilated cardiomyopathy in two sisters with trichothiodystrophy, leading to cerebral infarction in the younger one. In addition, both suffer from severe hearing impairment, osteosclerosis, and psychomotor retardation with central hypomyelination. CONCLUSION: Severe cardiac involvement and stroke may be associated features of trichothiodystrophy.

DDD pacing mode survival in children with a dual-chamber pacemaker.

BACKGROUND: The persistence of DDD pacing is well documented in adults, however, in children survival of the DDD pacing mode is less clear. METHODS: We studied the survival of dual-chamber (DDD) pacing in 36 children aged 1 week to 16 years who underwent implantation of a dual-chamber pacing system between January 1986 and October 1998. The children were divided in the following two groups: 26 had epicardial pacing systems and 10 had endocardial pacing systems. RESULTS: During long-term follow-up 11 patients lost the DDD pacing mode. The DDD pacing survival rate at 3 months and 1, 2, and 5 years was 80%, 77%, 73%, and 69%, respectively. Age, weight, congenital heart disease, and epicardial pacing leads were not found to be risk factors for loss of DDD pacing mode. However, P-wave values of less than 2.5 mV at implantation of epicardial leads were associated with loss of the DDD pacing mode. CONCLUSIONS: The majority of children remain in the DDD pacing mode during long-term follow-up. A P-wave value of less than 2.5 mV at implantation of epicardial leads is a risk factor for loss of the DDD pacing mode.