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[Clinico-pathological polymorphism of hypertrophic cardiomyopathy in echocardiography]
Insights
This study investigated hypertrophic cardiomyopathy (HCM) in 20 families, finding that asymmetrical left ventricular hypertrophy (LVH) is common. Familial patterns show significant similarity in LVH distribution among relatives.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease.
- Left ventricular hypertrophy (LVH) is a key characteristic of HCM.
- Understanding familial patterns of LVH is crucial for diagnosis and management.
Purpose of the Study:
- To analyze the echocardiographic features of LVH in families with HCM.
- To classify LVH distribution using Maron's criteria.
- To assess the familial resemblance of LVH patterns.
Main Methods:
- Echocardiography was performed on 322 adults from 20 families with confirmed HCM.
- LV diastolic wall thickness > 13 mm defined affected individuals.
- LVH distribution was analyzed across myocardial segments and compared between first-degree relatives.
Main Results:
- 127 out of 322 subjects were diagnosed with HCM.
- Asymmetrical LVH was observed in 95% of affected individuals, predominantly involving the septum and free wall.
- LVH distribution was identical in 8%, similar in 42%, and different in 50% of studied first-degree relative pairs.
Conclusions:
- Familial HCM is typically characterized by asymmetrical LVH.
- There is a significant, though not absolute, familial resemblance in LVH distribution among relatives.
- Echocardiographic analysis of LVH patterns can aid in understanding HCM inheritance.
Abstract:
An echocardiographic Study of 322 adults (age: 40 +/- 16 years), belonging to 20 families with hypertrophic cardiomyopathy (HCM), was undertaken. Affected subjects had a LV diastolic wall thickness > 13 mm. The patients were classified according to the distribution of left ventricular hypertrophy (LVH) and by Maron's classification: 189 subjects were normal, 127 were affected and 6 could not been classified. By Maron's classification: 3% were type I, 33% were type II, 58% were type III and 6% were type IV. LVH was asymmetrical in 95% of cases (septum/posterior wall ratio > 1.3). The familial distribution of LVH of the 4 families in which HCM was genetically related to different loci (chromosome 11, 14 exon 13, 14 exon 8, fifth locus); the LVH was analysed from two short axis LV parasternal views and each plane was divided into 5 segments. The distribution of LVH was said to be identical between two first degree relations when all the same segments were affected, similar when they differed by only 1 or 2 segments and different when they differed by 3 or more segments. In the 26 pairs studied, LVH was identical in 2/26 (8%), similar in 11/26 (42%) and different in 13/26 (50%). Familial HCM usually gives rise to asymmetrical LVH affecting the septum and free wall. An identical distribution in 50% of affected first degree relatives.