Ingrid M.E. Frohn-Mulder

Management of fixed subaortic stenosis: A retrospective study of 57 cases

Although recommended by several investigators, the benefit of early surgery in patients with fixed subaortic stenosis has not been proved. Findings were reviewed of 57 patients with isolated fixed subaortic stenosis, including 27 surgically treated patients, with special emphasis on the occurrence of aortic regurgitation during a mean follow-up period of 6.7 years. The number of patients with aortic regurgitation increased preoperatively in the total group (23% at diagnosis to 54% after 3.7 years of follow-up). The prevalence of aortic regurgitation in the 27 surgically treated patients was higher (81%) than that in the nonsurgically treated group but remained unchanged after a mean postoperative period of 4.7 years. In all patients but one, aortic regurgitation remained of minor hemodynamic significance. One patient died during follow-up. After surgery, 15 patients (55%) showed a relapse; 11 redeveloped a subvalvular pressure gradient greater than 30 mm Hg and discrete subvalvular ridges (range 6 months to 24 years after surgery, mean 7 years). In those patients with fixed subaortic stenosis, follow-up did not reveal any benefit from early surgery. The unpredictable course and sometimes very severe progression of this disease make frequent and careful follow-up necessary.

Autosomal dominant inheritance of left ventricular outflow tract obstruction

Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect.

Short- and midterm results of balloon valvuloplasty for valvular aortic stenosis in children

During a 27-month period, 21 consecutive children (aged 0.1 to 15.7 years) with isolated valvular aortic stenosis underwent percutaneous transfemoral balloon valvuloplasty. Ten children had undergone earlier surgical valvulotomy. The indication for treatment was ST-T-segment changes at rest or during bicycle-ergometry, a continuous-wave Doppler-derived transvalvular gradient greater than 60 mm Hg or syncope, or a combination. Mean peak systolic left ventricular pressure decreased from 165 +/- 19 to 131 +/- 19 mm Hg (p less than 0.001). Mean end-diastolic left ventricular pressure did not change significantly (12 +/- 3 vs 11 +/- 5 mm Hg). Mean peak systolic valve gradient decreased from 71 +/- 23 to 22 +/- 11 mm Hg (p less than 0.001). Mean cardiac index remained unchanged (2.9 +/- 0.8 vs. 3.0 +/- 0.7 liters.min-1.m-2). Aortic valve regurgitation on angiography appeared or increased in 9 patients (up to grade 3 in 3 children). Noninvasive follow-up studies were performed for 2 to 4.2 years (mean 2.8). ST-T changes on the electrocardiogram at rest or during exercise were present in 6 patients before balloon valvuloplasty and had disappeared in all at 6-month follow-up. Reoccurrence of ST-T changes after a longer follow-up was associated with severe valve regurgitation. Syncope was not observed after balloon valvuloplasty. The continuous-wave Doppler gradient decreased from 94 +/- 36 to 49 +/- 15 mm Hg (p less than 0.001). After a follow-up of 2 to 4.2 years (mean 2.8) it remained unchanged (43 +/- 13 mm Hg; p = not significant).(ABSTRACT TRUNCATED AT 250 WORDS)

Clinical significance of maternal anti-Ro/SS-A antibodies in children with isolated heart block☆

OBJECTIVES We studied 30 consecutive children with isolated heart block to assess the clinical impact of the presence of maternal anti-Ro/SS-A antibodies for isolated heart block. BACKGROUND Isolated heart block in children, often associated with maternal autoimmune disease leading to anti-Ro/SS-A auto-antibody production, is an infrequent but potentially lethal disorder. METHODS Thirty children with isolated heart block were studied with respect to medical history and electrocardiographic (ECG) analysis. The presence of anti-Ro/SS-A antibodies was determined in the maternal serum. We also examined the ECGs of all brothers and sisters of the patients for conduction abnormalities. RESULTS Twenty-one of the 30 children had an anti-Ro/SS-A-positive mother (group A); the other 9 children had an anti-Ro/SS-A-negative mother (group B). Comparison of the clinical data from both mothers and children revealed that these two groups differed significantly with respect to the following: Prenatal diagnosis and obstetric complications occurred more often in group A, whereas progression to complete block, QRS width > 0.08 s, premature ventricular contractions and ventricular standstills > 4.5 s occurred more often in group B. In addition, mothers of children in group A reported more spontaneous abortions. All siblings of children in groups A and B had normal ECGs, excluding a subclinical form of heart block. CONCLUSIONS Two types of heart block can be recognized: Congenital heart block is associated with maternal anti-Ro/SS-A antibodies and numerous obstetric and neonatal complications. It is diagnosed prenatally or at birth and is usually complete at onset and probably has a substantial recurrence risk. Heart block that is acquired later in life is not associated with maternal autoimmunity and has no risk for recurrence. It often presents as a partial block but progresses to complete block in time.

Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation.

The outcome of Down syndrome fetuses presenting with sonographic abnormalities in the second or third trimester is unclear. Therefore, we studied 55 pregnancies referred because of sonographically suspected fetal structural anomalies or growth retardation due to trisomy 21. A detailed ultrasound scan was performed in all cases to delineate the structural anomalies. Congenital heart malformations (CHMs) were diagnosed pre‐ and postnatally in 29 out of 55 Down fetuses (53%), with complete or incomplete atrioventricular septal defects (AVSDs) and ventricular septal defects (VSDs) being the most frequent anomalies. The most frequent noncardiac findings were a short femur (45%) and a small‐for‐gestational age (SGA) fetus (27%). Termination of pregnancy was carried out in 25 out of 55 pregnancies (45%). Of the 30 continued pregnancies, 10 ended with intrauterine death. The remaining 20 pregnancies resulted in the delivery of a live‐born infant whose prognosis was poor, with a 1‐year survival of only 60%. Combining intrauterine death and death in the first year indicated that the overall survival rate was only 40%. Fatal outcome was noted in 68% (13/19) in the presence of CHM, in 83% (10/12) in SGA fetuses, in 86% (6/7) in combined CHM and SGA, but only in 17% (1/6) in the absence of CHM and SGA. This study indictes that second‐ and third‐trimester in utero diagnosis of Down syndrome has a poor outcome when associated with CHM and/or SGA. This is important in the genetic counseling of the parents.

ASSESSMENT OF VENTRICULAR SEPTAL DEFECT CLOSURE BY INTRAOPERATIVE EPICARDIAL ULTRASOUND

Intraoperative epicardial two-dimensional echocardiographic imaging, color flow mapping and contrast echocardiography were used in 31 patients after patch closure of a ventricular septal defect to determine their respective values in the assessment of residual shunting after cardiopulmonary bypass and for the prediction of long-term results. Epicardial imaging showed no incidence of patch dehiscence. Residual shunting detected by color flow mapping or contrast echocardiography was graded into one of four categories (0 to III). Real time analysis of color flow mapping studies suggested no shunting (grade 0) in 2 patients, grade I shunting in 20, grade II in 8 and grade III in 1; contrast studies suggested grade 0 in 15, grade I in 6, grade II in 8 and grade III in 2. Interobserver variation in real time encoding of grade I or II shunting was 25% by color flow mapping and 6% by contrast echocardiography. Subsequent frame by frame analysis revealed that both diastolic and early systolic right ventricular turbulence gave rise to false positive results during real time analysis of color flow mapping studies. Color flow mapping allowed exact localization of residual shunting, whereas contrast echocardiography allowed better semiquantification. Postbypass results were correlated in 30 patients with late postoperative precordial studies (mean interval 7.5 months). Persistent shunts were found in 6 (20%) of 30 patients. No patient required reoperation for residual shunting. The predictive value of immediate grade I or II shunting as a marker for persistent long-term shunting was poor, whereas both patients with immediate grade III shunting had shunt persistence, indicating that immediate revision should be considered in such patients. Intraoperative epicardial ultrasound is valuable for the immediate exclusion of important residual shunting after ventricular septal defect closure. Maximal information is obtained when color flow mapping and contrast echocardiography are used in combination.

Prenatal ultrasound diagnosis of MYH7 non‐compaction cardiomyopathy

We report on two prenatal ultrasound diagnoses of left ventricular non‐compaction cardiomyopathy (LVNC) associated with mutation of the cardiac β‐myosin heavy chain gene (MYH7). LVNC is characterized by a trabecular meshwork and deep intertrabecular myocardial recesses communicating with the left ventricular cavity. Clinical features range from non‐penetrant disease in adult carriers to heart failure, arrhythmia and thromboembolism. Both cases showed cardiomegaly on prenatal ultrasound examinations, with features indicating non‐compaction of the myocardium apparent in the third trimester. Mutations in the MYH7 gene were identified postnatally in each case in both the proband and the father. One infant underwent surgical mitral valvuloplasty and a mechanical valve implant later; in the other, left ventricular function was unimpaired at birth. Cardiac function in both cases remained stable at last follow‐up. These cases highlight the importance of prenatal ultrasound diagnosis of LVNC and the need for cardiologic and molecular testing of first‐degree relatives who may be unknown carriers of an MYH7 mutation.